Details of Disease

General Information of Disease (ID: DISW3BLY)

Disease Name Hypotrichosis 11
Synonyms HYPT11; SNRPE hypotrichosis; hypotrichosis caused by mutation in SNRPE; hypt11; hypotrichosis type 11; hypotrichosis 11
Definition Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene.
Disease Hierarchy
DISSW933: Hypotrichosis
DIS8WHDJ: Hypotrichosis simplex
DISW3BLY: Hypotrichosis 11
Disease Identifiers
MONDO ID
MONDO_0014027
UMLS CUI
C3554409
OMIM ID
615059
MedGen ID
767323

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SNRPE OT18J6E8 Strong Autosomal dominant [1]
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References

1 Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet. 2013 Jan 10;92(1):81-7. doi: 10.1016/j.ajhg.2012.10.022. Epub 2012 Dec 13.