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2 OMIM references -
2 associated genes
13 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
Peripheral resistance to thyroid hormones
Charcot-Marie-Tooth disease type 2B2

THRA MED25
THRB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
THRA
THRB
(0.63)
(0.63)
MED25
MED25



Citations in the biomedical literature:


Peripheral resistance to thyroid hormones
THRA THRB
Charcot-Marie-Tooth disease type 2B2
MED25



Peripheral resistance to thyroid hormones
Charcot-Marie-Tooth disease type 2B2

Synonym(s):
(no synonyms)

Synonym(s):
- AR-CMT2B2
- Autosomal recessive axonal CMT4C3
- Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2

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

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537991

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



Charcot-Marie-Tooth disease type 2B2

(no data available)