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2 OMIM references -
2 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 2
1 associated gene
No signs/symptoms info
Peripheral resistance to thyroid hormones
Severe combined immunodeficiency due to DNA-PKcs deficiency

THRA PRKDC
THRB


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Peripheral resistance to thyroid hormones
THRA THRB
Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC



Peripheral resistance to thyroid hormones
Severe combined immunodeficiency due to DNA-PKcs deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- SCID due to DNA-PKcs deficiency

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

Peripheral resistance to thyroid hormones

Very frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Autosomal dominant inheritance
- Coarse face
- Constipation
- Face / facial anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Hypothyroidy
- Hypotonia
- Large fontanelle / delayed fontanelle closure
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Sleep and vigilance disorders
- Umbilical hernia



Severe combined immunodeficiency due to DNA-PKcs deficiency

(no data available)