Immunodeficiency 47

Preferred Label : Immunodeficiency 47;

Symbol : IMD47;

CISMeF acronym : IMD47;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency and hepatopathy with or without neurologic features; Congenital disorder of glycosylation, type iis; CDG2S; Cdg iis; CDGIIs;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, accessory protein 1 gene (ATP6AP1, 300197.0001);

Laboratory abnormalities : Defective N- and O-glycosylation of serum proteins; High alkaline phosphatase; Low serum ceruloplasmin; Abnormal liver enzymes; Low serum copper;

Prefixed ID : #300972;

Details

Origin ID

300972;

UMLS CUI

C4310819;

Currated CISMeF NLP mapping
- immunodeficiency 47 [DO Concept]
DO Cross reference
- immunodeficiency 47 [DO Concept]
Genes related to phenotype
- Atpase, h+ transporting, lysosomal, accessory protein 1 [OMIM gene]
HPO term(s)
- Abnormal protein N-linked glycosylation [HPO term]
- Abnormal protein O-linked glycosylation [HPO term]
- Accessory spleen [HPO term]
- Arachnoid cyst [HPO term]
- Childhood onset [HPO term]
- Cholestasis [HPO term]
- Chronic decreased circulating total IgG [HPO term]
- Chronic diarrhea [HPO term]
- Cirrhosis [HPO term]
- Cutis laxa [HPO term]
- Death in infancy [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased circulating copper concentration [HPO term]
- Decreased circulating total IgA [HPO term]
- Decreased circulating total IgG [HPO term]
- Decreased circulating total IgM [HPO term]
- Elevated circulating alanine aminotransferase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hepatic bridging fibrosis [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- High forehead [HPO term]
- Hypercholesterolemia [HPO term]
- Hypermetropia [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Joint hypermobility [HPO term]
- Leukopenia [HPO term]
- Neonatal onset [HPO term]
- Normocytic anemia [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent infections [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Tricuspid regurgitation [HPO term]
- Type II transferrin isoform profile [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- ATP6AP1-CDG [ORDO Disease]
See also inter- (CISMeF)
- ALG2 alpha-1,3/1,6-mannosyltransferase [ORDO Gene]
- ALG2-CDG [ORDO Disease]
- SSR4-CDG [ORDO Disease]
- congenital disorder of glycosylation type II [MeSH concept]
- congenital disorder of glycosylation type II [MeSH Supplementary Concept]
- congenital disorder of glycosylation type II [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 47 [DO Concept]

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