Supported Diseases Charlie

The National Information Centre for Metabolic Diseases

Metabolic Diseases

'C'

Metabolic Diseases

'C'

	Disease		Also Known as
	Canavan Leukodystrophy		Spongiform Leukodystrophy
	Carbamyl Phosphate Synthetase Deficiency		CPS
	Carbonic Anhydrase II Deficiency		CA II Deficiency
	Carnitine Deficiency Myopathic/Systemic		Muscle Carnitine Deficiency
	Carnitine Palmitoyltransferase Deficiency		CPT
	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		Lysosomal Acid Lipase Deficiency
	Cholesteryl-Ester Transfer Protein Deficiency		CTEP
	Chondrodysplasia Punctata		Conradi Disease
	Chronic Progressive External Ophthalmoplegia		CPEO
	Chylomicron Retention Disease		Anderson Disease
	Citrullinaemia		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 - General		CAH
	Congenital Adrenal Hyperplasia – 3 Beta Hydroxy-Steroid Dehydrogenase		CAH - 3β Hydroxy-Steroid Dehydrogenase
	Congenital Adrenal Hyperplasia – 11 Beta Hydroxylase Deficiency		CAH – 11β Hydroxylase Deficiency
	Congenital Adrenal Hyperplasia – 17 Alpha Hydroxylase Deficiency		CAH – 17α 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: General		CAH – 21 Hydroxylase Deficiency: General
	Congenital Adrenal Hyperplasia – 21 Hydroxylase Deficiency: Attenuated Form		CAH – 21 Hydroxylase Deficiency: Attenuated Form
	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 Hypoplasia		Adrenal Hypoplasia Congenita
	Congenital Atransferrinaemia		Congenital Hypotransferrinaemia
	Congenital Chloridorrhoea		Congenital Chloride Diarrhoea
	Congenital Disorders of Glycosylation – General		CDG
	Congenital Disorders of Glycosylation Type Ia		CDG Type 1a
	Congenital Disorders of Glycosylation Type Ib		CDG Type 1b
	Congenital Disorders of Glycosylation Type Ic		CDG Type 1c
	Congenital Disorders of Glycosylation Type IIa		CDG Type IIa
	Congenital Disorders of Glycosylation Type III		CDG Type III
	Congenital Disorders of Glycosylation Type IV		CDG Type IV
	Congenital Erythropoietic Porphyria		CEP
	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		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		Cystine Storage Disease
	Cystinuria		Cystine Stones
	Cytochrome b5 Reductase Deficiency		Methemoglobinaemia Type II

Disease

Canavan Leukodystrophy

Carbamyl Phosphate Synthetase Deficiency

Carbonic Anhydrase II Deficiency

Carnitine Deficiency Myopathic/Systemic

Carnitine Palmitoyltransferase

Deficiency

Carnosinaemia

Carotenaemia

Central Core Disease

Cerebellar Ataxia

Cerebellum Hypoplasia

Cerebrocostomandibular Syndrome

Cerebrotendinous Xanthomatosis

Channelopathies

Charcot Marie Tooth Disease

Chediak-Higashi Syndrome

Childhood Ataxia with Central Hypomyelination

Cholesteryl-Ester Storage Disease

Cholesteryl-Ester Transfer Protein Deficiency

Chondrodysplasia Punctata

Chronic Progressive External Ophthalmoplegia

Citrullinaemia

Cleidocranial Dysplasia

Cobalamin Disorders

Cockayne Syndrome

Coffin Lowry Syndrome

Coffin-Siris Syndrome

Cohen Syndrome

Collagen Disorders

Combined Pituitary Hormone Deficiency

Congenital Adrenal Hyperplasia - General

Congenital Adrenal Hyperplasia – 11 Beta Hydroxylase Deficiency

Congenital Adrenal Hyperplasia – 17 Alpha Hydroxylase Deficiency

Congenital Adrenal Hyperplasia – 17-20 Desmolase Deficiency

Congenital Adrenal Hyperplasia – 20-22 Desmolase Deficiency

Congenital Adrenal Hyperplasia – 21 Hydroxylase Deficiency: Attenuated Form

Congenital Adrenal Hyperplasia – 21 Hydroxylase Deficiency: Simple Virilizing Form

Congenital Adrenal Hyperplasia – 21 Hydroxylase Deficiency: Sodium Losing Form

Congenital Adrenal Hypoplasia

Congenital Atransferrinaemia

Congenital Chloridorrhoea

Congenital Disorders of Glycosylation – General

Congenital Disorders of Glycosylation

Type Ia

Congenital Disorders of Glycosylation

Type Ib

Congenital Disorders of Glycosylation

Type Ic

Congenital Disorders of Glycosylation

Type IIa

Congenital Disorders of Glycosylation

Type III

Congenital Disorders of Glycosylation

Type IV

Crigler Najjar Syndrome Type 2

Cushing Disease

Cutanea Tarda Porphyria

Cutis Marmorata Telangiectatica Congenita

Cystathionase Deficiency (Gamma)

Cystathionine Beta Synthase Deficiency

Cysteinyl-Glycinase Deficiency

Cystic Fibrosis

Cystinosis

Cystinuria

Cytochrome b5 Reductase Deficiency