Marie Unna hereditary hypotrichosis

General Information (adopted from Orphanet):

Synonyms, Signs: MUHH
Marie Unna congenital hypotrichosis
Hypotrichosis, Marie Unna type
Number of Symptoms 10
OrphanetNr: 444
OMIM Id: 146550
612841
ICD-10: Q84.0
UMLs: C2931059
MeSH: C535912
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 30 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alopecia
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
2
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
3
 (HPO:0000653) Sparse eyelashes 58 / 7739
4
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
5
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
6
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
7
 (HPO:0002231) Sparse body hair 9 / 7739
8
 (HPO:0003777) Pili torti 24 / 7739
9
 (HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: