ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
1 associated gene
8 signs/symptoms

Charcot-Marie-Tooth disease type 2B2

Generalized resistance to thyroid hormone


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

Citations in the biomedical literature:

Charcot-Marie-Tooth disease type 2B2		Generalized resistance to thyroid hormone
	Synonym(s): - AR-CMT2B2 - Autosomal recessive axonal CMT4C3 - Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2		Synonym(s): - Deafness - thyroid hormone resistance - Refetoff syndrome

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare otorhinolaryngologic 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

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
Charcot-Marie-Tooth disease type 2B2
(no data available)