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Marie Unna hereditary hypotrichosis
2 OMIM references -
2 associated genes
12 connected diseases
6 signs/symptoms
Disease Type of connection
Alopecia universalis
Atrichia with papular lesions
Hypocalcemic vitamin D-resistant rickets
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive dopa-responsive dystonia
Baraitser-Winter syndrome
Peripheral resistance to thyroid hormones
Autoimmune lymphoproliferative syndrome
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Acute promyelocytic leukemia
Matthew-Wood syndrome
Papillary or follicular thyroid carcinoma
Synonym(s):
- Hypotrichosis, Marie Unna type
- MUHH
- Marie Unna congenital hypotrichosis
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C535912
Gene symbol UniProt reference OMIM reference
EPS8L3 Q8TE67614989
HR O43593602302
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