Details of Disease

General Information of Disease (ID: DISOVJZO)

Disease Name Familial isolated trichomegaly
Definition
Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.
Disease Hierarchy
DIS9JYMB: Trichomegaly
DISOVJZO: Familial isolated trichomegaly
Disease Identifiers
MONDO ID
MONDO_0018472
UMLS CUI
C4706941
MedGen ID
1639703
Orphanet ID
411788
SNOMED CT ID
764523004

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
FGF5 OTQXGHBY Supportive Autosomal recessive [1]
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References

1 FGF5 is a crucial regulator of hair length in humans. Proc Natl Acad Sci U S A. 2014 Jul 22;111(29):10648-53. doi: 10.1073/pnas.1402862111. Epub 2014 Jul 2.