Rare Disease Library

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Familial apolipoprotein C-II deficiency

Familial apoC-II deficiency · Familial APOC2 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

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

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

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

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

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

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Transaldolase deficiency

TALDO deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

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