Details of Disease

General Information of Disease (ID: DISX1C1I)

Disease Name Hypertrichosis lanuginosa congenita
Synonyms hypertrichosis lanuginosa universalis; congenital hypertrichosis lanuginosa; hypertrichosis universalis; hypertrichosis lanuginosa congenita
Definition
Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.
Disease Hierarchy
DISLRS4M: Ectodermal dysplasia
DISZUK5W: Hypertrichosis
DISX1C1I: Hypertrichosis lanuginosa congenita
Disease Identifiers
MONDO ID
MONDO_0016381
MESH ID
C538389
UMLS CUI
C0235864
OMIM ID
145700
MedGen ID
66727
Orphanet ID
2222
SNOMED CT ID
201163007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ABCC9 TTEF5MJ Strong Biomarker [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FOXN1 OTE80D6I Strong Genetic Variation [2]
KCNJ8 OTZ8G8FE Strong Biomarker [1]
MAP2K6 OTK13JKC Strong Genetic Variation [3]
MED23 OTKZQT0R Strong Biomarker [1]
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References

1 Topical sulfonylurea as a novel therapy for hypertrichosis secondary to diazoxide, and potentially for other conditions with excess hair growth.Med Hypotheses. 2015 Dec;85(6):969-71. doi: 10.1016/j.mehy.2015.08.025. Epub 2015 Sep 5.
2 FOXN1 Duplication and Congenital Hypertrichosis.Pediatr Dermatol. 2017 Mar;34(2):e77-e79. doi: 10.1111/pde.13078.
3 Genomic analysis of gum disease and hypertrichosis in foxes.Genet Mol Res. 2016 May 20;15(2). doi: 10.4238/gmr.15025363.