Disorders

List of Supported Inherited Metabolic Disorders

A

Name Translations Also Known As
Acatalasaemia Takahara’s
Aceruloplasminemia Ceruloplasmin Deficiency
Achondroplasia Achondroplastic Dwarfism
Acrodermatitis Enteropathica AE
Acromegaly Marie Disease
ACTH Deficiency Adrenocorticotrophic Hormone Deficiency Isolated
Acute Disseminated Encephalomyelitis ADEM
Acute Intermittent Porphyria AIP
Addison’s Disease Adredocortical Hypofunction
Adenine Phosphoribosyltransferase Deficiency ARPT Deficiency
Adenosine Deaminase Deficiency ADA Deficiency
Adenosylcobalamin Deficiency Methylmalonic Aciduria due to Adenosylcobalamin Deficiency
Adenylosuccinate Lyase Deficiency Adenylosuccinase Deficiency
Adrenoleukodystrophy – Adult Adrenomyeloneuropathy/AMN
Adrenoleukodystrophy – General ALD
Adrenoleukodystrophy – Neonatal ALD – Neonatal
Adrenoleukodystrophy – X-Linked ALD – X-Linked
Agammaglobulinaemia Antibody Deficiency
Agenesis of Corpus Callosum ACC
Aicardi Syndrome Spasm-in-Flexion
Aicardi-Goutieres Syndrome AGS
ALA-D Porphyria Plumboporphyria
Alagille Syndrome AHD
Alanine Ketoglutarate Aminotransferase Deficiency GPT
Alanine Synthase Deficiency (Beta) UPB1
Albinism Hypopigmentation
Albright Hereditary Osteodystrophy AHO
Albright Hereditary Osteodystrophy with Pseudo Hypoparathyroidism AHO with PHP
Albright Hereditary Osteodystrophy with Pseudo Pseudo Hypoparathyroidism
Aldolase Deficiency ALD Deficiency
Alexander Leukodystrophy Alexander Disease
Alkaptonuria Punjabi Urdu Alcaptonuria
Alkyl-DHAP Synthase Deficiency ADHAPS
Alpers Disease Punjabi Urdu Christensen’s Disease
Alpha 1-Antitrypsin Deficiency Hereditary Emphysema
Alport Syndrome Hereditary Nephritis
Alstrom Syndrome Punjabi Urdu ALMS
Aminobutyric Acid Transaminase Deficiency (Gamma)
Aminoisobutyrate Pyruvate Aminotransferase Deficiency (Beta) BAIBPAT Deficiency
Amish Lethal Microcephaly MCPHA
Amyloidosis Urdu
Androgen Insensitivity – Complete Complete AIS / CAIS
Androgen Insensitivity Syndrome – Partial Partial AIS / PAIS
Angelman Syndrome AS
Antiphospholipid Syndrome Hughes’ Syndrome
Antithrombin Deficiency AT Deficiency
Antley Bixler Syndrome ABS
Apert Syndrome Acrocephalosyndactylyl Type I
Apolipoprotein C-II Deficiency Hyperlipoproteinaemia Type 1B
Arachidonic Acid Deficiency
Arginase Deficiency Hyperargininaemia
Argininosuccinic Aciduria Punjabi Urdu Argininosuccinate Lyase Deficiency
Aromatic L-Amino Acid Decarboxylase Deficiency ALADD
Arterial Calcification of Infancy Infantile Arteriosclerosis
Arthrogryposis,Renal Dysfunction and Cholestasis ARC Syndrome
Arylsulphatase A Pseudo Deficiency ASA
Aspartylglucosaminuira Aspartylglucosaminidase Deficiency
Asperger Syndrome Autism – Asperger’s Type
Ataxia Telangiectasia Louis-Bar Syndrome
Attention Deficit Hyperactivity Disorder ADHD
Autism Kanner Syndrome
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy APECED Syndrome

B

Name Translations Also Known As
Bannayan Riley Ruvalcaba Syndrome Bannayan Syndrome
Bardet-Biedl Syndrome BBS
Bartter Syndrome Hypokalemic Alkalosis with Hypercaluria
Batten Disease – Adult Form Kufs’ Disease
Batten Disease – General Punjabi Urdu Neuronal Ceroid Lipofuscinosis
Batten Disease – Infantile Form Santavouri Disease
Batten Disease – Juvenile Form Spielmeyer-Vogt-Sjogren Disease
Batten Disease – Late Infantile Form Jansky-Bielschowski Disease
Batten Disease – Northern Epilepsy Progressive Epilepsy with Mental Retardation/PEMR
Batten Disease – Variant Forms Finnish Late Variant,Turkish Late Infantile,Variant Late Infantile
Beals Syndrome Congenital Contractural Arachnodactyly
Becker Muscular Dystrophy BMD
Beckwith-Wiedemann Syndrome BWS
BEHR Syndrome Optic Atrophy Ataxia Syndrome
Bernard Soulier Syndrome Giant Platelet Syndrome
Bethlem Myopathy Benign Congenital Muscular Dystrophy
Bilateral Striatal Necrosis Striatal Degeneration
Biopterin Metabolism Defects Biopterin Deregulation
Biotinidase Deficiency
Bisphosphoglycerate Mutase Deficiency BPGM Deficiency
Blepharophimosis,Ptosis,Epicanthus Inversus Syndrome BPES
Bloom Syndrome Punjabi Urdu BS
Blue Diaper Syndrome Drummonds Syndrome
Blue Rubber BLEB Nevus Syndrome Bean Syndrome

C

Name Translations Also Known As
Canavan Leukodystrophy Punjabi Urdu Spongiform Leukodystrophy
Carbamyl Phosphate Synthetase Deficiency CPS
Carnitine Deficiency Myopathic/Systemic Muscle Carnitine Deficiency
Carnitine Palmitoyltransferase Deficiency General General Info
Carnitine Palmitoyltransferase Deficiency Type I CPT type I
Carnitine Palmitoyltransferase Deficiency Type II Punjabi Urdu Myopathic CPT2 deficiency
Carnosinaemia Carnosinase Deficiency
Carotenaemia Familial Carotenaemia
Central Core Disease Shy-Magee Syndrome
Cerebellar Ataxia Cerebellitis
Cerebellum Hypoplasia Cerebellar Agenesis
Cerebrocostomandibular Syndrome Rib Gap Defects with Micrognathia
Cerebrotendinous Xanthomatosis CTX
Channelopathies
Charcot Marie Tooth Disease CMT
Chediak-Higashi Syndrome Oculocutaneous Albinism,Chediak-Higashi Type
Childhood Ataxia with Central Hypomyelination Central Diffuse Myelinosis
Cholesteryl-Ester Storage Disease Punjabi Urdu Lysosomal Acid Lipase Deficiency
Cholesteryl-Ester Transfer Protein Deficiency CTEP
Chondrodysplasia Punctata Conradi Disease
Chronic Progressive External Ophthalmoplegia CPEO
Chylomicron Retention Disease Anderson Disease
Citrin Deficiency Punjabi Urdu Citrullinaemia Type II
Citrullinaemia Punjabi Urdu Argininosuccinate Synthetase Deficiency
Cleidocranial Dysplasia Conradi Disease
Cobalamin Disorders
Cockayne Syndrome Neill-Dingwall Syndrome
Coffin Lowry Syndrome Coffin Syndrome
Coffin-Siris Syndrome Fifth Digit Syndrome
Cohen Syndrome Pepper Syndrome
Collagen Disorders
Combined Pituitary Hormone Deficiency Hanhart Dwarfism
Congenital Adrenal Hyperplasia – 11 Beta Hydroxylase Deficiency CAH – 11? Hydroxylase Deficiency
Congenital Adrenal Hyperplasia – 17 Alpha Hydroxylase Deficiency CAH – 17? Hydroxylase Deficiency
Congenital Adrenal Hyperplasia – 17-20 Desmolase Deficiency CAH – 17-20 Desmolase Deficiency
Congenital Adrenal Hyperplasia – 20-22 Desmolase Deficiency CAH – 20-22 Desmolase Deficiency
Congenital Adrenal Hyperplasia – 21 Hydroxylase Deficiency: Attenuated Form CAH – 21 Hydroxylase Deficiency: Attenuated Form
Congenital Adrenal Hyperplasia – 21 Hydroxylase Deficiency: General CAH – 21 Hydroxylase Deficiency: General
Congenital Adrenal Hyperplasia – 21 Hydroxylase Deficiency: Simple Virilizing Form CAH – 21 Hydroxylase Deficiency: Simple Virilizing Form
Congenital Adrenal Hyperplasia – 21 Hydroxylase Deficiency: Sodium Losing Form CAH – 21 Hydroxylase Deficiency: Sodium Losing Form
Congenital Adrenal Hyperplasia – 3 Beta Hydroxy-Steroid Dehydrogenase Deficiency CAH – 3Beta Hydroxy-Steroid Dehydrogenase
Congenital Adrenal Hyperplasia – General Punjabi Urdu CAH
Congenital Adrenal Hyperplasia in Adults CAH Adults
Congenital Adrenal Hypoplasia Adrenal Hypoplasia Congenita
Congenital Atransferrinaemia Congenital Hypotransferrinaemia
Congenital Chloridorrhoea Congenital Chloride Diarrhoea
Congenital Disorders of Glycosylation – General Punjabi Urdu CDG
Congenital Disorders of Glycosylation Type Ia CDG Type 1a / PMM2-CDG
Congenital Disorders of Glycosylation Type Ib CDG Type 1b / MPI-CDG
Congenital Disorders of Glycosylation Type Ic CDG Type 1c / ALG6-CDG
Congenital Disorders of Glycosylation Type IIa CDG Type IIa / MGAT2-CDG
Congenital Erythropoietic Porphyria CEP
Congenital Hyperinsulinism CHI
Conn Syndrome Primary Aldosteronism
Costello Syndrome Faciocutaneoskeletal Syndrome
Creutzfeldt – Jakob Disease – Inherited CJD
Cri du Chat Syndrome Le Jeune Syndrome
Crigler Najjar Syndrome Type 1 Congenital Familial Nonhemolytic Jaundice Type 1
Crigler Najjar Syndrome Type 2 Arias Syndrome
Cushing Disease Punjabi Urdu Adrenal Neoplasm
Cutanea Tarda Porphyria CTP
Cutis Marmorata Telangiectatica Congenita CMTC
Cystathionase Deficiency (Gamma) Cystathioninuria
Cystathionine Beta Synthase Deficiency CbS Deficiency
Cysteinyl-Glycinase Deficiency
Cystic Fibrosis CF
Cystinosis Punjabi Urdu Cystine Storage Disease
Cystinuria Cystine Stones
Cytochrome b5 Reductase Deficiency Methemoglobinaemia Type II

D

Name Translations Also Known As
D-Bifunctional Protein Deficiency
D-Glyceric Aciduria D-Glycerate Kinase Deficiency
D2 Hydroxyglutaric Aciduria D2-HGA
Dandy-Walker Syndrome Dandy-Walker Malformation
Danon Disease Glycogen Storage Disease IIb
De Barsy Syndrome Progeroid Syndrome of De Barsy
Dent Disease X-Linked Nephrolithiasis
Dentato-Olivary Dysplasia
Dentatorubral – Pallidoluysian Atrophy DRPLA
Dercum Disease Adiposis Dolorosa
Desmosterolosis
Dienoyl CoA Reductase Deficiency (2,4-)
DiGeorge Syndrome Pharyneal Pouch Syndrome
Dihydrolipoamide Dehydrogenase Deficiency DHLD Deficiency
Dihydropteridine Reductase Deficiency Phenylketonuria Type II
Dihydropyrimidinase Deficiency DHP Deficiency
Dihydropyrimidine Dehydrogenase Deficiency Combined Uraciluria-Thyminuria
Dihydroxyacetone Phosphate Acyltransferase Deficiency DHAPAT Deficiency – Rhizomelic Chondroplasia Punctata Type 2
Disaccharidase Deficiency
Dopamine Beta-Hydroxylase Deficiency Noradrenaline Deficiency
Drash Syndrome Denys-Drash Syndrome
Duarte Galactosaemia
Dubin-Johnson Syndrome Hyperbilirubinemia II
Duchenne Muscular Dystrophy DMD
Dyggve-Melchior Clausen Disease DMC Disease
Dysautonomia – Familial Riley Day Syndrome
Dysbetalipoproteinaemia Hyperlipoproteinaemia Type III
Dystonia

F

Name Translations Also Known As
Fabry Disease Punjabi Urdu Anderson-Fabry Disease
Factor II Deficiency Hypoprothrombinaemia
Factor IX Deficiency Haemophilia B
Factor V Deficiency Parahaemophilia
Factor VII Deficiency Extrinsic Factor Deficiency
Factor VIII Deficiency Haemophilia A
Factor X Deficiency Stuart Prower Disease
Factor XI Deficiency Haemophilia C
Factor XII Deficiency Hagemann Factor Deficiency
Fahr’s Disease Bilateral Striopalliodentate Calcinosis
Familial Articular Chondrocalcinosis Familial Calcium Gout
Familial Combined Hyperlipidaemia FCHL
Familial Hypertriglyceridaemia Hyperlipoproteinaemia Type IV
Familial Hypoalphalipoproteinaemia High Density Lipoprotein Deficiency
Familial Juvenile Hyperuricaemic Nephropathy Familial Gouty Nephropathy
Fanconi Anaemia Congenital Pancytopenia
Fanconi Syndrome De Toni-Fanconi Syndrome
Fanconi-Bickel Syndrome Fanconi-Bickel Syndrome
Farber Disease Ceramidase Deficiency
Fatty Acid Oxidation Disorders -General FOD’s
Fibrodysplasia Ossificans Progressiva FOP
Fibrous Dysplasia – General Idiopathic Fibrous Hyperplasia
Folinic Acid Responsive Seizures
Fragile X Syndrome FRAXA
Friedreich’s Ataxia FRDA
Fructose 1,6-Bisphosphatase Deficiency Fructose 1,6-Diphosphate Deficiency
Fructose Intolerance – Hereditary Fructosaemia
Fructosuria Essential Fructosuria
Fucosidosis Alpha-L-Fucosidase Deficiency
Fukuyama Muscular Dystrophy Cerebromuscular Dystrophy,Fukuyama Type
Fumarase Deficiency Fumaric Aciduria

G

Name Translations Also Known As
Galactokinase Deficiency GALK
Galactosaemia Punjabi Urdu GALT
Galactosialidosis Goldberg Syndrome
Gardener’s Syndrome Oldfield Syndrome
Gaucher Disease Type 1 Punjabi Urdu Glucocerebrosidase Deficiency
Gaucher Disease Type 2 Glucocerebrosidase Deficiency
Gaucher Disease Type 3 Subacute Neuronopathic Gaucher Disease
Geleophysic Dysplasia Focal Mucopolysaccharidosis
General Information Punjabi Urdu Welsh Climb General Info
Gilbert Syndrome
Gitelman Syndrome Familial Hypokalaemia-Hypomagnesemia
Glanzmann Thrombasthenia Glanzmann Disease
Glucose 6-Phosphate Dehydrogenase Deficiency G6PD
Glucose 6-Phosphate Isomerase Deficiency Phosphoglucoisomerase Deficiency
Glucose Galactose Malabsorption Monosaccharide Malabsorption
Glucose Transporter Type 1 Deficiency GLUT 1
Glutamate Formiminotransferase Deficiency
Glutamyl – Cysteine Synthetase Deficiency (Gamma)
Glutamyl – Transpeptidase Deficiency (Gamma) Glutathionuria
Glutaric Aciduria Type I GA I
Glutaryl-CoA Oxidase Deficiency Glutaric Aciduria Type III
Glutathione Peroxidase Deficiency GPX Deficiency
Glutathione Reductase Deficiency GSR Deficiency
Glutathione Synthetase Deficiency – Generalised GS Deficiency
Glycerol Kinase Deficiency Hyperglycerolaemia
Glycine N-methyltransferase Deficiency GNMT
Glycogen Storage Disease General GSD
Glycogen Storage Disease Type I Punjabi Urdu Von Gierke Disease
Glycogen Storage Disease Type II Punjabi Urdu Pompes Disease
Glycogen Storage Disease Type III Forbes Disease
Glycogen Storage Disease Type IV Andersen Disease
Glycogen Storage Disease Type IX Glycogenosis IX
Glycogen Storage Disease Type V Punjabi Urdu McArdle Disease
Glycogen Storage Disease Type VI Hers Disease
Glycogen Storage Disease Type VII Tarui Disease
Glycogen Storage Disease Type VIII Hepatic Phosphorylase Kinase Deficiency
Glycogen Synthase Deficiency Glycogen Storage Disease Type O
GM1 Gangliosidosis Type I – Infantile Landing Disease
GM1 Gangliosidosis Type II – Juvenile
GM1 Gangliosidosis Type III – Adult
GM2 Gangliosidosis Type II Sandhoff Disease
GM2 Gangliosidosis Type II – Infantile Punjabi Urdu Sandhoff Disease
GM2 Gangliosidosis Type II – Juvenile Form Sandhoff Disease
GM2 Gangliosidosis Type II – Late Onset Form Sandhoff Disease
Goldenhar Syndrome Oculo-Auriculo-Vertebral Spectrum
Graves Disease Parry Disease
Greig Cephalopolysyndactyly Syndrome GCPS
Griscelli Syndrome Chediak-Higashi Like Syndrome
Growth Hormone Deficiency GHD
GTP Cyclohydrolase I Deficiency Hyperphenylalaninaemia with Neopterin Deficiency
Guanidinoacetate Methyltransferase Deficiency GAMT

H

Name Translations Also Known As
3-Hydroxyacyl-CoA Dehydrogenase Deficiency HADH Deficiency; Formerly known as Short-Chain 3 Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHADD)
Haemachromatosis Iron Metabolism disorder
Haemoglobin M Disease Methemoglobinaemia II
Hallermann-Streiff Syndrome Oculomandibulofacial Syndrome
Hallervorden Spatz Neurodegeneration with Brain Iron Accumulation Type I
Harlequin Syndrome Harlequin Foetus
Hartnup Disease Hart Syndrome
Hashimoto Disease Chronic Thyroiditis
Hawkinsinuria 4-Hydroxyphenylpyruvate Hydroxylase Deficiency
HELLP Syndrome
Heme Oxygenase-1 Deficiency Hemoxygenase I
Hemihyperplasia Hemihypertrophy
Hepatic Lipase Deficiency HL Deficiency
Hereditary Angioedema
Hereditary Coproporphyria HCP
Hereditary Elliptocytosis HE
Hereditary Folate Malabsorption Folic Acid Transport Deficiency
Hereditary Intrinsic Factor Deficiency Pernicious Anaemia,Congenital,due to Defect of Intrinsic Factor
Hereditary Nonspherocytic Haemolytic Anaemia HNHA
Hereditary Renal Glycosuria Benign Glycosuria
Hermansky Pudlak Syndrome
Hexokinase Deficiency HK Deficiency
Hirschsprung Disease
Histidinaemia Histidase Deficiency
Holocarboxylase Synthetase Deficiency Punjabi Urdu
Holoprosencephaly
Homocarnosinosis Homocarnosinase Deficiency
Homocystinuria Punjabi Urdu
Huntington Disease – Juvenile Juvenile HD
Hutchinson-Gilford Progeria Progeria
Hydroxy 3 Methyglutaryl CoA Lyase Deficiency (3) HMG-CoA Lyase Deficiency
Hydroxy 3 Methyglutaryl CoA Synthase Deficiency (3)
Hydroxyisobutyric Aciduria Succinic Semialdehyde Dehydrogenase Deficiency
Hydroxyisobutyryl-CoA Deacylase Deficiency (3)
Hyperbetalipoproteinaemia Hyperlipoproteinaemia Type II
Hyperchloridrosis
Hypercholesterolaemia Punjabi Urdu Familial High Cholesterol
Hyperexplexia Hyperekplexia
Hyperhidrosis
Hyperinsulinism Hyperammonemia GDH-HI
Hyperinsulinism Hypoglycaemia Punjabi Urdu Congenital Hyperinsulinism
Hyperkalaemic Periodic Paralysis
Hyperleucine Isoleucinaemia
Hyperlysinaemia Lysine Intolerance
Hyperornithinaemia Hyperammonaemia Homocitrullinuria Syndrome HHH
Hyperparathyroidism
Hyperphenylalaninaemia HPA
Hyperphosphatasia with Mental Retardation
Hyperpipecolic Acidaemia Pipecolic Acidaemia
Hyperprolinaemia Type 1 Proline Oxidase Deficiency
Hyperprolinaemia Type 2 Pyrolline Carboxylate Dehydrogenase Deficiency
Hypertrophic Cardiomyopathy and Myopathy
Hyperzincemia
Hypobetalipoproteinaemia HBL
Hypocalcinuric Hypercalcaemia Hypercalcinaemia – Non-Williams
Hypochondroplasia
Hypokalaemic Periodic Paralysis
Hypomelanosis of Ito
Hypoparathyroidism
Hypophosphatasia – General  HPP
Hypopituitarism   Pituitary Insufficiency
Hypothyroidism – Congenital
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency – Partial

I

Name Translations Also Known As
Ichthyosis Disorders of Cornification
IMAGe Syndrome Punjabi Urdu
Imerslund-Grasbeck Syndrome Defective Transport of Cobalamin by Enterocytes
Iminoglycinuria
Immunoglobulin A Deficiency Gammaglobulin Deficiency
Infantile Free Sialic Acid Storage Disorder ISSD
Infantile Neuroaxonal Dystrophy INAD; Seitelberger Disease
Intermediate Salla Disease
Iodotyrosine Deidoinase Deficiency Iodotyrosine Dehalogenase Deficiency
Isobutyryl-CoA Dehydrogenase Deficiency IBDH Deficiency
Isovaleric Acidaemia Punjabi Urdu IVA

J

Name Translations Also Known As
Jeune Syndrome Asphyxiating Thoracic Dystrophy
Juvenile Paget’s Disease Hyperphosphatastasia

K

Name Translations Also Known As
Kallmann Syndrome Hypogonadism with Anosmia
Kearns-Sayre Syndrome KSS
Kenny-Caffey Syndrome Congenital Medullary Stenosis
Kernicterus Hyperbilirubinaemia
Ketoadipic Acidaemia (2) Oxoadipic Aciduria
Ketoglutarate Dehydrogenase Deficiency (2) 2-KGD Deficiency
Ketotic Hypoglycaemia
Klinefelter Disease Primary Hypogonadism
Klippel Feil Syndrome Cervical Vertebral Fusion
Kniest Dysplasia Metatrophic Dwarfism Type II
Krabbe Leukodystrophy Krabbe Disease

L

Name Translations Also Known As
L2 Hydroxyglutaric Aciduria L-2-HGA
Lactic Acidosis
Lafora Body Disease Progressive Myoclonic Epilepsy Type 2
Laurence Moon Syndrome Laurence Syndrome
Leber Congenital Amaurosis Congenital Retinitis Pigmentosa
Leber Hereditary Optic Neuroretinopathy LHON
Lecithin Cholesterol Acyl Transferase Deficiency LCAT / Fish-eye Disease
Leigh Disease Greek Punjabi Urdu Subacute Necrotising Encephalomyopathy
Lennox-Gastaut Syndrome LGS
Leprechaunism Donohue Syndrome
Leptin Deficiency
Leptin Receptor Defects
Lesch-Nyhan Disease
Leukocyte Adhesion Deficiency Syndrome Type II Congenital Disorders of Glycosylation Type IIc
Leukodystrophy – General Punjabi Urdu
Leukoencephalopathy
Leukotriene C4-Synthesis Deficiency LTC4 Synthase Deficiency
Ligneous Conjunctivitis
Limb Girdle Muscular Dystrophy Proximal Muscular Dystrophy
Lipid Storage Disease – General
Lipodystrophy – Barraquer-Simons Disease Progressive Lipodystrophy
Lipodystrophy – Berardinelli-Seip Syndrome Congenital Generalised Lipodystrophy
Lipodystrophy – Centrifugal Form Localised Lipodystrophy
Lipodystrophy – Dunnigan Form Familial Partial Lipodystrophy
Lipodystrophy – General
Lipodystrophy – Kobberling Form Familial Partial Lipodystrophy
Lipodystrophy – Lawrence Syndrome Acquired Generalised Lipodystrophy
Lipodystrophy – Mandibuloacral Dysplasia Craniomandibular Dermatodysostosis
Lipodystrophy – Membranous Form Nasu-Hakola Disease
Lipodystrophy – Mesenteric Form
Lipodystrophy – PPARG Mutation Familial Partial Lipodystrophy
Lipoprotein Lipase Deficiency Hyperchylomicronaemia Hyperlipoproteinaemia Type I
Loken-Senior Syndrome Senior-Loken Syndrome
Long Chain 3 Hydroxyacyl CoA Dehydrogenase Deficiency LCHADD
Long Chain Fatty Acid Oxidation Disorders Diets Punjabi Urdu
Lowe Syndrome Oculocerebrorenal Syndrome
Lymphedaemia Milroy Disease
Lysine Deficiency
Lysinuric Protein Intolerance Punjabi Urdu LPI
Lysosomal Storage Disease – General LSD’s

M

Name Translations Also Known As
Madelungs Disease Benign Symmetrical Lipomatosis
Maleyacetoacetate Isomerase Deficiency MAI Deficiency
Malonyl CoA Decarboxylase Deficiency Malonic Aciduria
Mannosidosis (Alpha) Alpha-Mannosidase B Deficiency
Mannosidosis (Beta) Beta-Mannosidase Deficiency
Maple Syrup Disease Punjabi Urdu MSD
Marden-Walker Syndrome MWS
Marfan Syndrome Contractual Arachnodactyly
Marinesco Sjogren Syndrome MSS
Mastocytosis Mast Cell Disease
McCune Albright Syndrome Polyostotic Fibrous Dysplasia
McKusick Kaufman Syndrome MKKS
Medium Chain 3 Ketoacyl CoA Thiolase Deficiency MCKAT
Medium Chain Acyl CoA Dehydrogenase Deficiency Greek Punjabi Urdu Welsh MCADD
Megalencephalic Leukoencephalopathy with Subcortical Cysts Van der Knaap Leukodystrophy
Melorheostosis
Membrane Inhibitor of Reactive Lysis MIRL
Menkes Disease Kinky Hair Disease
Metachromatic Leukodystrophy Punjabi Urdu Arylsulphatase A Deficiency
Methionine Adenosyltransferase Deficiency Hypermethioninaemia
Methyl-Cobalamin Deficiency
Methylacyl-CoA Racemase Deficiency (2) AMACR
Methylcrotonyl CoA Carboxylase Deficiency (3) Methylcrotonyl Glycinuria (3)
Methylenetetrahydrofolate Reductase Deficiency MTHFR
Methylglutaconic Aciduria (3) Type 1 3-Methylglutaconyl-CoA Hydratase Deficiency
Methylglutaconic Aciduria (3) Type 2 Barth Syndrome
Methylglutaconic Aciduria (3) Type 3 Costeff Syndrome
Methylglutaconic Aciduria (3) Type 4
Methylmalonic Acidaemia Punjabi Urdu MMA
Methylmalonic Acidaemia and Homocystinuria MMA & HCU Cobalamin C Disease Cobalamin D Disease
Methylmalonic Semialdehyde Dehydrogenase Deficiency
Mevalonic Aciduria
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Beta Ketothiolase Deficiency
Mitochondrial Cytopathy
Mitochondrial Disorders -General Punjabi Urdu
Mitochondrial DNA Depletion Syndrome
Mitochondrial Encephalomyopathy,Lactic Acidosis and Stroke-like Episodes MELAS
Mitochondrial Myopathy
Mitochondrial Myopathy,Peripheral Neuropathy,Gastrointestinal and Encephalopathy Disease MNGIE
Mitochondrial Respiratory Chain Complex – General
Mitochondrial Respiratory Chain Complex I
Mitochondrial Respiratory Chain Complex II
Mitochondrial Respiratory Chain Complex III
Mitochondrial Respiratory Chain Complex IV Cytochrome C Oxidase Deficiency
Mitochondrial Respiratory Chain Complex V
Miyoshi Myopathy
Mohr-Tranebjaerg Syndrome Deafness-Dystonia-Optic Atrophy Syndrome
Molybdenum Co-factor Deficiency Sulphite and Xanthine Oxidase Deficiency
Monoamine Oxidase-A Deficiency MAO-A Deficiency
Morquio B Disease Mucopolysaccharidosis IVb
Mosaicism Chromosomal Mosaicism
Muckle Wells Syndrome MWS
Mucolipidosis II Arabic I Cell Disease / ML II
Mucolipidosis III Pseudohurler Polydystrophy /ML III
Mucolipidosis IV Neuraminidase Deficiency
Mucopolysaccharidosis – General MPS
Mucopolysaccharidosis Type I Punjabi Urdu Hurler Disease
Mucopolysaccharidosis Type II Punjabi Urdu Hunter Disease
Mucopolysaccharidosis Type III Punjabi Urdu Sanfilippo Disease
Mucopolysaccharidosis Type IVA Punjabi Urdu Morquio Syndrome
Mucopolysaccharidosis Type IX Hyaluronidase Deficiency
Mucopolysaccharidosis Type VI Maroteaux-Lamy Disease
Mucopolysaccharidosis Type VII Sly Syndrome
Mulibrey Nanism Syndrome Perheentupa Syndrome
Multiple Acyl CoA Dehydrogenase Deficiency Glutaric Aciduria Type II / GA II
Multiple Sulphatase Deficiency Austin Syndrome
Multiple System Atrophy MSA
Muscular Dystrophy MD
Myasthenia Gravis – Congenital MG / Erb-Goldflam Syndrome
Myoadenylate Deaminase Deficiency MAD Deficiency
Myoclonic Epilepsy and Ragged Red Fibres MERRF
Myotubular Myopathy Central Nuclear Myopathy

P

Name Translations Also Known As
Paediatric Metabolic Bone Disease Punjabi Urdu
Paine Syndrome Microcephaly-Spastic Diplegia Syndrome
Parkinson Disease – Juvenile PDJ
Pearson Syndrome Pearson Marrow-Pancreas Syndrome
Pelizaeus Merzbacher PM
Pendred Syndrome Goiter-Deafness Syndrome
Pentosuria L-Xylulosuria
Peroxisomal Disorders – General
Phenylketonuria Punjabi Urdu PKU
Phosphoenolpyruvate Carboxykinase Deficiency PEPCK
Phosphoglycerate Dehydrogenase Deficiency PHGDH Deficiency
Phosphoglycerate Kinase Deficiency Phosphoglycerokinase
Phosphoribosyl Pyrophosphate Synthetase Deficiency PRPP Synthetase Deficiency
Phosphoribosyl Pyrophosphate Synthetase Superactivity PRPP Synthetase Superactivity
Phosphoserine Phosphatase Deficiency PSPH
Pickwickian Syndrome Obesity Hypoventilation Syndrome
Pollitt Syndrome Trichothiodystrophy Type C
Pontocerebellar Hypoplasia PCH
Porphyria – General Punjabi Urdu Porphyria A5 Booklet
Prader Willi Syndrome PWS
Precocious Puberty Familial Testotoxicosis
Prekallikrein Deficiency Fletcher Factor Deficiency
Primary Hyperoxaluria Hyperoxaluria
Primary Hypomagnesaemia with Secondary Hypocalcaemia Hypomagnesemic Tetany
Progressive Familial Intrahepatic Cholestasis Byler Disease
Prohormone Convertase Deficiency Peptidase Deficiency
Prolidase Deficiency Peptidase Deficiency
Propionic Acidaemia PA
Protein C Deficiency Hereditary Thrombophilia
Protein S Deficiency PROS
Prune Belly Syndrome Congenital Absence of Abdominal Muscles
Pseudo Hypoaldosteronism Type 1 PHA1
Pseudo Hypoaldosteronism Type 2 Gordon Syndrome
Pseudo Hypoparathyroidism PHP
Pseudo Hypophosphatasia PsHYPT
Pseudo Neonatal Adrenoleukodystrophy Straight-Chain Acyl-CoA Oxidase Deficiency; Peroxisomal acyl-CoA Oxidase Deficiency
Pseudo Xanthoma Elasticum PXE
Pseudo Zellweger Syndrome
Pseudoachondroplastic Dysplasia Pseudoachondroplasia
Pseudocholinesterase Deficiency Postanaesthetic Apnoea
Pterin 4-Alpha-Carbinolamine Dehydratase Deficiency Primapterinuria
Purine Disorders – General
Purine Nucleoside Phosphorylase Deficiency PNP Deficiency
Pycnodysostosis PYCD
Pyridoxamine 5′-Phosphate Oxidase Deficiency PNPO Deficiency
Pyridoxine Deficiency Vitamin B6 Deficiency
Pyridoxine Responsive Seizures Pyridoxine-Responsive Epilepsy
Pyridoxine-Dependant Epilepsy PDE
Pyrimidine 5’Nucleotidase Deficiency UMP Hydrolase Deficiency
Pyrroline 5-Carboxylase Synthetase Deficiency (Delta) Glutamate Gamma-Semialdehyde Synthetase
Pyruvate Carboxylase Deficiency PC Deficiency
Pyruvate Dehydrogenase Deficiency Congential Infantile Lactic Acidosis
Pyruvate Dehydrogenase Phosphatase Deficiency PDD Deficiency
Pyruvate Kinase Deficiency PK Deficiency
Pyruvoyl Tetrahydropterin Synthase Deficiency (6) 6PTS

Q

Name Translations Also Known As
Quebec Platelet Disorder Punjabi QPD, Factor V Quebec Deficiency

R

Name Translations Also Known As
Rabson-Mendenhall Syndrome Mendenhall Syndrome
Reductase Deficiency (5 Alpha) 5-ARD
Reductase Deficiency (5 Beta) 5?-Reductase Deficiency
Reflex Sympathetic Dystrophy Syndrome Algoneurodystrophy
Refsum Disease Punjabi Urdu Phytanic Acid Storage Disease
Refsum Disease – Infantile IRD
Renal Tubular Acidosis RTA
Resistance to Thyroid Hormone RTH
Rett Syndrome RTT
Reye Syndrome RS
Rhizomelic Chondrodysplasia Punctata RCP
Rieger Syndrome Gondiodysgenesis-Hypodontia
Rothmund-Thompson Syndrome RTS
Rotor Syndrome Hyperbilirubinemia,Rotor Type
Roussy-Levy Syndrome Charcot-Marie-Tooth Disease – Variant
Rud Syndrome Ichthyosis-Male Hypogonadism Syndrome
Russell Silver Syndrome RSS
Ruvalcaba Syndrome Mental Retardation-Osteodystrophy,Ruvalcaba Type

S

Name Translations Also Known As
S-Adenosylhomocysteine Hydrolase Deficiency SAHH Deficiency
Salla Disease
Sarcosinemia Hypersarcosinemia
Sato Syndrome Mental and Growth Retardation with Amblyopia
Schindler Disease Neuraxonal Dystrophy,Schindler Type
Sea Blue Histiocytosis Sea-Blue Histiocyte Disease
Septo-Optic Dysplasia SOD
Serine and Glycine Deficiency
Serine Deficiency with Ichthyosis and Polyneuropathy Disorders of Keratinization
Severe Combined Immunodeficiency SCID
Short Chain acyl-CoA Dehydrogenase Deficiency SCADD
Shwachman Syndrome Shwachman-Diamond Syndrome
Sialidosis Mucolipidosis I
Sialuria Salla Disease/ Sialic Acid Storage Disease
Sickle Cell Disease
Simpson-Golabi-Behmel Syndrome Simpson Dysmorphia Syndrome
Sitosterolemia Phytosterolemia
Sjögren-Larsson Syndrome Ichthyosis,Spastic Neurologic Disorder,Mental Retardation
Smith-Lemli-Opitz Syndrome SLOS
Sodium/Iodide Symporter Gene Defects
Sotos Syndrome Cerebral Gigantism
Spherocytosis – Hereditary Ankyrin Deficiency
Spinal Muscular Atrophy Type 1 SMA Type 1
Spinal Muscular Atrophy Type 2 SMA Type 2
Spinal Muscular Atrophy Type 3 SMA Type 3
Spondyloepiphyseal Dysplasia SED
Sporadic Toxic Thyroid Hyperplasia Thyrotropin Receptor
Steroid Sulphatase Deficiency X-Linked Ichthyosis
Stevens Johnson Syndrome Johnson-Stevens Disease
Stickler Syndrome Wagner’s Syndrome
Succinyl-CoA Oxoacid Transferase Deficiency SCOT
Sucrase-Isomaltase Deficiency CSID
Sulphite Oxidase Deficiency Sulphocyseinuria

T

Name Translations Also Known As
Tangier Disease Alphalipoproteinemia
Tay-Sachs – General Punjabi Urdu GM2 Gangliosidosis Variant B
Tay-Sachs – Infantile GM2 Gangliosidosis Type I
Tay-Sachs – Juvenile GM2 Gangliosidosis Type III
Tay-Sachs – Late Onset GM2 Gangliosidosis Type I
Tetrahydrobiopterin Deficiency Malignant Hyperphenlalaninemia
Tetrahydrofolate Methyltransferase Deficiency Methionine Synthase Deficiency
Thalassaemia Cooley’s Anemia
Thomsen Disease Myotonia Congenita
Thrombocytopaenia Type 1 TTP1
Thrombocytopaenia Type 2 TTP2
Thymidine Phosphorylase Deficiency TP Deficiency
Thyroglobulin Gene Defects Tg Gene Defects
Thyroperoxidase Gene Defects TPO Gene Defects
Timothy Syndrome Long QT Syndrome with Syndactyly
Tourette Syndrome Habit Spasms
Transcobalamin I Deficiency R Binder Deficiency
Transcobalamin II Deficiency TC II Deficiency
Translocation of Chromosome 6 Ring 6,Chromosome
Trehalase Deficiency
Trichothiodystrophy Tay Syndrome
Trifunctional Protein Deficiency Mitochondrial Trifunctional Protein Deficiency
Trimethylaminuria Syndrome Punjabi Urdu Fish Odour Syndrome
Triosephosphate Isomerase Deficiency TPI / Isomerase Deficiency
Triple X Syndrome Trisomy X
Trisomies Chromosomal Triplication
Tuberous Sclerosis Pringle’s Disease
Tumoral Calcinosis Calcium Gout
Turner Syndrome Gonadal Dysgenesis
Tyrosinaemia Type 1 Punjabi Urdu Congenital Tyrosinosis
Tyrosinaemia Type 2 Richner-Hanhart Syndrome
Tyrosinaemia Type 3 4HPPD
Tyrosine Hydroxylase Deficiency TH Deficiency

W

Name Translations Also Known As
Waardenburg Syndrome WS
WAGR Syndrome WAGR Complex
Walker-Warburg Syndrome HARD +/-E Syndrome
Weber Christian Disease Christian Disease
Werner Syndrome Progeria of Adulthood
West Syndrome Infantile Spasms
Wiedemann-Rautenstrauch Syndrome Neonatal-Progeroid Syndrome
Williams Syndrome Williams Bueren Syndrome
Wilson Disease Punjabi Urdu Hepatolenticular Degeneration
Winchester Syndrome Winchester-Grossman Syndrome
Wiskott-Aldrich Syndrome Immunodeficiency II
Wolff-Parkinson White Syndrome Preexcitation Syndrome
Wolfram Syndrome DIDMOAD
Wolman Disease Punjabi Urdu Lysosomal Acid Lipase Deficiency

Y

Name Translations Also Known As
Yunis-Varon Syndrome Cleidocranial Dysplasia with Micrognathia,Absent Thumbs Distal Aphalangia

Z

Name Translations Also Known As
Zellweger Syndrome Bowen Syndrome Cerebrohepatorenal Syndrome