Severe combined immunodeficiency with sensitivity to ionizing radiation

Preferred Label : Severe combined immunodeficiency with sensitivity to ionizing radiation;

CISMeF acronym : RS-SCID; SCIDA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation; RS-SCID;

Included titles and symbols : Severe combined immunodeficiency, athabaskan-type; Athabaskan severe combined immunodeficiency; Severe combined immunodeficiency, partial; SCIDA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA cross-link repair protein 1C (DCLRE1C, 605988.0001);

Prefixed ID : #602450;

Details

Origin ID

602450;

UMLS CUI

C1865370;

Automatic exact mappings (from CISMeF team)
- Athabaskan severe combined immunodeficiency [MeSH concept]
- DCLRE1C wt Allele [NCIt concept]
- athabaskan severe combined immunodeficiency [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Severe combined immunodeficiency [ORDO Disease]
CISMeF manual mappings
- severe combined immunodeficiency with sensitivity to ionizing radiation [DO Concept]
Currated CISMeF NLP mapping
- SCID - [Severe combined immunodeficiency] due to DCLRE1C- [DNA cross-link repair 1C] deficiency [ICD-11 More detail]
- Severe combined immunodeficiency due to DCLRE1C deficiency [ORDO Disease]
- Severe combined immunodeficiency with sensitivity to ionizing radiation [MeSH concept]
- severe combined immunodeficiency with sensitivity to ionizing radiation [MeSH Supplementary Concept]
DO Cross reference
- severe combined immunodeficiency with sensitivity to ionizing radiation [DO Concept]
Genes related to phenotype
- Dna cross-link repair protein 1c [OMIM gene]
HPO term(s)
- Absent tonsils [HPO term]
- Aplasia of the thymus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Genital ulcers [HPO term]
- Lymph node hypoplasia [HPO term]
- Oral ulcer [HPO term]
- Otitis media [HPO term]
- Panhypogammaglobulinemia [HPO term]
- Pneumonia [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Severe combined immunodeficiency [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to DCLRE1C deficiency [ORDO Disease]
See also inter- (CISMeF)
- Severe Combined Immunodeficiency, Athabascan Type [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SCID - [Severe combined immunodeficiency] due to DCLRE1C- [DNA cross-link repair 1C] deficiency [ICD-11 More detail]
- Severe combined immunodeficiency with sensitivity to ionizing radiation [MeSH concept]
- severe combined immunodeficiency with sensitivity to ionizing radiation [MeSH Supplementary Concept]
- severe combined immunodeficiency with sensitivity to ionizing radiation [DO Concept]

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