ODCs

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2 OMIM references -
2 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Marie Unna hereditary hypotrichosis

Autosomal recessive dopa-responsive dystonia

EPS8L3	(UniProt - OMIM)		TH	(UniProt - OMIM)
HR	(UniProt - OMIM)


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

Citations in the biomedical literature:

Marie Unna hereditary hypotrichosis		Autosomal recessive dopa-responsive dystonia
	Synonym(s): - Hypotrichosis, Marie Unna type - MUHH - Marie Unna congenital hypotrichosis		Synonym(s): - Autosomal recessive Segawa syndrome - DYT5b - Tyrosine hydroxylase deficiency - Tyrosine hydroxylase-deficient dopa-responsive dystonia

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

Marie Unna hereditary hypotrichosis
	Very frequent - Absent / decreased / thin eyebrows - Alopecia - Anomalies of eyelids, eyelashes and lacrimal system - Autosomal dominant inheritance - Coarse / thick hair - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
Autosomal recessive dopa-responsive dystonia
(no data available)