Immunodeficiency 49, severe combined

Preferred Label : Immunodeficiency 49, severe combined;

Symbol : IMD49;

CISMeF acronym : IMD49;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities; Severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BAF chromatin remodeling complex subunit BCL11B gene (BCL11B, 606558.0001);

Prefixed ID : #617237;

Details

Origin ID

617237;

UMLS CUI

C4310656;

Automatic exact mappings (from CISMeF team)
- BCL11B wt Allele [NCIt concept]
- immunodeficiency 49 [DO Concept]
DO Cross reference
- immunodeficiency 49 [DO Concept]
Genes related to phenotype
- Baf chromatin remodeling complex subunit bcl11b [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Cutis laxa [HPO term]
- Eosinophilia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hirsutism [HPO term]
- Hypertelorism [HPO term]
- Inflammatory abnormality of the skin [HPO term]
- Intellectual disability [HPO term]
- Lymphopenia [HPO term]
- Micrognathia [HPO term]
- Myopathic facies [HPO term]
- Natal tooth [HPO term]
- Posteriorly rotated ears [HPO term]
- Pulmonary artery stenosis [HPO term]
- Seizure [HPO term]
- Severe combined immunodeficiency [HPO term]
- Short palpebral fissure [HPO term]
- Short philtrum [HPO term]
- Spastic tetraplegia [HPO term]
- Umbilical hernia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wormian bones [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- immunodeficiency 49 [DO Concept]

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