ODCs

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2 OMIM references -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
2 associated genes
13 signs/symptoms

Marie Unna hereditary hypotrichosis

Peripheral resistance to thyroid hormones

EPS8L3	(UniProt - OMIM)		THRA	(UniProt - OMIM)
HR	(UniProt - OMIM)		THRB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HR	(0.72)	THRA

Citations in the biomedical literature:

Marie Unna hereditary hypotrichosis		Peripheral resistance to thyroid hormones
	Synonym(s): - Hypotrichosis, Marie Unna type - MUHH - Marie Unna congenital hypotrichosis		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 2 OMIM references - 1 MeSH reference: C535912		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Marie Unna hereditary hypotrichosis		Peripheral resistance to thyroid hormones
	Very frequent - Absent / decreased / thin eyebrows - Alopecia - Anomalies of eyelids, eyelashes and lacrimal system - Coarse / thick hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness		Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - 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