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Severe combined immunodeficiency due to DNA-PKcs deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Generalized resistance to thyroid hormone
2 OMIM references -
1 associated gene
8 signs/symptoms
Severe combined immunodeficiency due to DNA-PKcs deficiency
Generalized resistance to thyroid hormone

PRKDC
(UniProt - OMIM)
 THRB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PRKDC
(0.68)
THRB


Citations in the biomedical literature:


Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC
Generalized resistance to thyroid hormone
THRB



Severe combined immunodeficiency due to DNA-PKcs deficiency
Generalized resistance to thyroid hormone

Synonym(s):
- SCID due to DNA-PKcs deficiency
Synonym(s):
- Deafness - thyroid hormone resistance
- Refetoff syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references
Generalized resistance to thyroid hormone

Very frequent
- Autosomal recessive inheritance
- Beaked nose
- Delayed bone age
- Pectus carinatum
- Punctate epiphyses / epiphysis
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Sensorineural deafness / hearing loss
- Thyroid anomalies



Severe combined immunodeficiency due to DNA-PKcs deficiency

(no data available)