Autoimmune disease, multisystem, infantile-onset, 2

Preferred Label : Autoimmune disease, multisystem, infantile-onset, 2;

Symbol : ADMIO2;

CISMeF acronym : ADMIO2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zeta-chain-associated protein kinase gene (ZAP70, 176947.0006);

Prefixed ID : #617006;

Details

Origin ID

617006;

UMLS CUI

C4310768;

Genes related to phenotype
- Zeta-chain-associated protein kinase [OMIM gene]
HPO term(s)
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Colitis [HPO term]
- Decreased specific pneumococcal antibody level [HPO term]
- Impaired lymphocyte transformation with phytohemagglutinin [HPO term]
- Increased CD4:CD8 ratio [HPO term]
- Infantile onset [HPO term]
- Linear IgG deposits along the epidermal basement membrane zone [HPO term]
- Minimal change glomerulonephritis [HPO term]
- Nephrotic syndrome [HPO term]
- Podocyte foot process effacement [HPO term]
- Proteinuria [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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