Rare Disease Library

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Aminoacylase 1 deficiency

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

Argininemia

Arginase 1 deficiency · Arginase deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Citrin deficiency

Complement component 3 deficiency

C3 deficiency

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Heme oxygenase-1 deficiency

HO-1 deficiency

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Methylcobalamin deficiency type cblDv1

Functional methionine synthase deficiency type cblDv1

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Transaldolase deficiency

TALDO deficiency

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transient neonatal multiple acyl-CoA dehydrogenase deficiency

Transient neonatal MAD deficiency · Transient neonatal MADD

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Trehalase deficiency

Isolated trehalose intolerance

Vitamin B12-responsive methylmalonic acidemia

Adenosylcobalamin deficiency · Vitamin B12-responsive methylmalonic aciduria

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

Xanthinuria type I

XDH deficiency · XO deficiency