Rare Disease Library

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Crigler-Najjar syndrome

Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency

Crigler-Najjar syndrome type 1

Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 · Bilirubin-UGT deficiency type 1

Crigler-Najjar syndrome type 2

Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 · Bilirubin-UGT deficiency type 2

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE deficiency

Gamma-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

Hereditary fructose intolerance

Hereditary fructose-1-phosphate aldolase deficiency · Hereditary fructosemia

Hereditary orotic aciduria

Orotidylic decarboxylase deficiency · Uridine monophosphate synthetase deficiency

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

Lipoyl transferase 1 deficiency

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Phosphoserine aminotransferase deficiency, prenatal form

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

PGM1-CDG

CDG syndrome type It · CDG-It

Pyruvate dehydrogenase phosphatase deficiency

PDH phosphatase deficiency

Triose phosphate-isomerase deficiency