Immunodeficiency 9

Preferred Label : Immunodeficiency 9;

Symbol : IMD9;

CISMeF acronym : IMD9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immune dysfunction with t-cell inactivation due to calcium entry defect 1;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 142A gene (TMEM142A, 610277.0001);

Prefixed ID : #612782;

Details

Origin ID

612782;

UMLS CUI

C2748568;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to CRAC channel dysfunction [ORDO Disease]
- Combined immunodeficiency due to ORAI1 deficiency [ORDO Disease]
- immune dysfunction with T-cell inactivation due to calcium entry defect 1 [MeSH concept]
- immune dysfunction with T-cell inactivation due to calcium entry defect 1 [MeSH Supplementary Concept]
- immunodeficiency 9 [DO Concept]
Broader ORDO disease(s)
- Combined immunodeficiency due to CRAC channel dysfunction [ORDO Disease]
DO Cross reference
- immunodeficiency 9 [DO Concept]
Genes related to phenotype
- Orai calcium release-activated calcium modulator 1 [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Autosomal recessive inheritance [HPO term]
- Difficulty walking [HPO term]
- Ectodermal dysplasia [HPO term]
- Failure to thrive [HPO term]
- Gowers sign [HPO term]
- Heat intolerance [HPO term]
- Hypotonia [HPO term]
- Immunodeficiency [HPO term]
- Myopathy [HPO term]
- Proximal muscle weakness [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Stomatitis [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 ORAI1 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 1 [MeSH Supplementary Concept]
- immune dysfunction with T-cell inactivation due to calcium entry defect 1 [MeSH concept]
- immunodeficiency 9 [DO Concept]

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