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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 TH
HR


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Marie Unna hereditary hypotrichosis
EPS8L3 HR
Autosomal recessive dopa-responsive dystonia
TH



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)