Rare Disease Library

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

Acatalasemia

Catalase deficiency

Acquired arginine vasopressin deficiency

Acquired CDI · Acquired neurogenic diabetes insipidus

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

AICA-ribosiduria

5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency

Aminoacylase 1 deficiency

ACY1D · N-acyl-L-amino acid amidohydrolase deficiency

Aminoacylase deficiency

Arginine vasopressin deficiency

CDI · Neurogenic diabetes insipidus

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Carnosinase deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Cystathioninuria

Cystathionase deficiency · Gamma-cystathionase deficiency

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Fumaric aciduria

Fumarase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Glycerol kinase deficiency

Histidinemia

HAL deficiency · HIS deficiency

Homocarnosinosis

Homocarnosinase deficiency

Hydroxykynureninuria

Kynureninase deficiency · Xanthurenic aciduria

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Isolated succinate-CoQ reductase deficiency

Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate-coenzyme Q reductase deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

Mitochondrial DNA depletion syndrome, hepatocerebral form

mtDNA depletion syndrome, hepatocerebral form · Deoxyguanosine kinase deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Prolidase deficiency

Hyperimidodipeptiduria

Pseudo-Zellweger syndrome

Thiolase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome