Details of Disease

General Information of Disease (ID: DISC82P6)

Disease Name Hypotrichosis 14
Synonyms HYPT14; HYPOTRICHOSIS 14
Disease Hierarchy
DISSW933: Hypotrichosis
DISC82P6: Hypotrichosis 14
Disease Identifiers
MONDO ID
MONDO_0032649
UMLS CUI
C4748930
OMIM ID
618275
MedGen ID
1648477

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
LSS TT7O8ZA Strong Genetic Variation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LSS OT9W2SFH Moderate Autosomal recessive [2]
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References

1 Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.