Rare Disease Library

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Medium chain acyl-CoA dehydrogenase deficiency

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

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

Myeloperoxidase deficiency

MPO deficiency

NIK deficiency

Primary immunodeficiency with multifaceted aberrant lymphoid immunity

Obesity due to prohormone convertase I deficiency

PCI deficiency

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly · OBSOLETE: aHUS with I factor anomaly

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

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

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Familial CD8 deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

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

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

Xanthinuria type I

XDH deficiency · XO deficiency