Immunodeficiency 10

Preferred Label : Immunodeficiency 10;

Symbol : IMD10;

CISMeF acronym : IMD10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immune dysfunction with t-cell inactivation due to calcium entry defect 2; Stim1 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the stromal interaction molecule 1 gene (STIM1, 605921.0001);

Neoplasia : Kaposi sarcoma (1 patient);

Prefixed ID : #612783;

Détails

Origin ID

612783;

UMLS CUI

C2748557;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to CRAC channel dysfunction [ORDO Disease]
- Combined immunodeficiency due to STIM1 deficiency [ORDO Disease]
- immune dysfunction with T-cell inactivation due to calcium entry defect 2 [MeSH Supplementary Concept]
- immune dysfunction with T-cell inactivation due to calcium entry defect 2 [MeSH concept]
- immunodeficiency 10 [DO Concept]
Broader ORDO disease(s)
- Combined immunodeficiency due to CRAC channel dysfunction [ORDO Disease]
DO Cross reference
- immunodeficiency 10 [DO Concept]
Genes related to phenotype
- Stromal interaction molecule 1 [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hypohidrosis [HPO term]
- Hypoplasia of the iris [HPO term]
- Hypotonia [HPO term]
- Immunodeficiency [HPO term]
- Kaposi's sarcoma [HPO term]
- Lymphadenopathy [HPO term]
- Myopathy [HPO term]
- Nail dysplasia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Thrombocytopenia [HPO term]
- Variable expressivity [HPO term]
Not associated HPO term(s)
- Abnormal immunoglobulin level [HPO term]
- Abnormal lymphocyte count [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to CRAC channel dysfunction [ORDO Disease]
- Combined immunodeficiency due to STIM1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immune dysfunction with T-cell inactivation due to calcium entry defect 2 [MeSH Supplementary Concept]
- immune dysfunction with T-cell inactivation due to calcium entry defect 2 [MeSH concept]
- immunodeficiency 10 [DO Concept]

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

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