ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 2

2 OMIM references -
2 associated genes
13 signs/symptoms

Charcot-Marie-Tooth disease type 2B2

Peripheral resistance to thyroid hormones

MED25	(UniProt - OMIM)		THRA	(UniProt - OMIM)
			THRB	(UniProt - OMIM)


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

Citations in the biomedical literature:

Charcot-Marie-Tooth disease type 2B2		Peripheral resistance to thyroid hormones
	Synonym(s): - AR-CMT2B2 - Autosomal recessive axonal CMT4C3 - Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2		Synonym(s): (no synonyms)

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

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

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

	External references: 1 OMIM reference - 1 MeSH reference: C537991		External references: 2 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
Charcot-Marie-Tooth disease type 2B2
(no data available)