Rare Disease Library

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ALPS due to CTLA4 haploinsuffiency · CHAI

Acquired monoclonal Ig light chain-associated Fanconi syndrome

Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome · Acquired Fanconi syndrome secondary to monoclonal gammopathy

Alpha-heavy chain disease

Alpha-HCD · IPSID

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Disorder of branched-chain amino acid metabolism

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

Heavy chain deposition disease

HCDD

Heavy chain disease

HCD

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency

Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells

Immunoglobulin heavy chain deficiency

Light and heavy chain deposition disease

LHCDD

Light chain deposition disease

LCDD

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

Long chain acyl-CoA dehydrogenase deficiency

LCAD

Low oxygen affinity gamma chain hemoglobin disease

Medium chain acyl-CoA dehydrogenase deficiency

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

Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

Mu-heavy chain disease

mu-HCD

OBSOLETE: Disease with isotype or light chain deficiencies with normal numbers of B cells

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Familial CD8 deficiency

T-B+ severe combined immunodeficiency due to gamma chain deficiency

SCIDX1 · T-B+ SCID due to gamma chain deficiency

Unstable alpha globin chain variant disease

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia

Unstable gamma globin chain variant disease

Very long chain acyl-CoA dehydrogenase deficiency

VLCAD deficiency · VLCADD

Choreoacanthocytosis

ChAc · Chorea-acanthocytosis

Congenital high airway obstruction syndrome

CHAOS

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS