Immunodeficiency 59 and hypoglycemia

Preferred Label : Immunodeficiency 59 and hypoglycemia;

Symbol : IMD59;

CISMeF acronym : IMD59;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Granulocytopenia with immunoglobulin abnormality;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hypoxia up-regulated 1 gene (HYOU1, 601746.0001);

Prefixed ID : #233600;

Détails

Origin ID

233600;

UMLS CUI

C1856263;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 59 [DO Concept]
Currated CISMeF NLP mapping
- granulocytopenia with immunoglobulin abnormality [MeSH concept]
- granulocytopenia with immunoglobulin abnormality [MeSH Supplementary Concept]
DO Cross reference
- immunodeficiency 59 [DO Concept]
Genes related to phenotype
- Hypoxia up-regulated 1 [OMIM gene]
HPO term(s)
- Acne inversa [HPO term]
- Arteritis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic diarrhea [HPO term]
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Early death [HPO term]
- Hepatomegaly [HPO term]
- Herpes encephalitis [HPO term]
- Herpes simplex encephalitis [HPO term]
- High anterior hairline [HPO term]
- High palate [HPO term]
- Hypoglycemia [HPO term]
- Immunodeficiency [HPO term]
- Malabsorption [HPO term]
- Micrognathia [HPO term]
- Narrow face [HPO term]
- Narrow nose [HPO term]
- Neonatal onset [HPO term]
- Oval face [HPO term]
- Pectus carinatum [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent skin infections [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Sepsis [HPO term]
- Short stature [HPO term]
- Slender finger [HPO term]
- Total serum gamma globulins low [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- granulocytopenia with immunoglobulin abnormality [MeSH Supplementary Concept]
- granulocytopenia with immunoglobulin abnormality [MeSH concept]
- immunodeficiency 59 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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