Details of Disease | DrugMAP

General Information of Disease (ID: DISF9MNT)

Disease Name	Monilethrix
Synonyms	MNLIX; nodose hair; monilethrix; moniliform hair syndrome
Definition	Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.
Disease Hierarchy	DIS3HIWD: Autosomal dominant disease DISSCALK: Hereditary skin disorder DISF9MNT: Monilethrix
Disease Identifiers	MONDO ID MONDO_0008009 MESH ID D056734 UMLS CUI C0546966 OMIM ID 158000 MedGen ID 108185 HPO ID HP:0032470 Orphanet ID 573 SNOMED CT ID 69488000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DSG4	OTWIQDC4	Supportive	Autosomal dominant	[1]
KRT81	OTMKIK2S	Supportive	Autosomal dominant	[2]
KRT80	OTAU54U3	Strong	Genetic Variation	[3]
KRT83	OTNQ040R	Strong	Autosomal dominant	[4]
KRT86	OT93MMAK	Strong	Autosomal dominant	[5]
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References

1	An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1292-6. doi: 10.1038/sj.jid.5700251.
2	A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet. 1997 Dec;101(2):165-9. doi: 10.1007/s004390050607.
3	Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet. 1997 Aug;16(4):372-4. doi: 10.1038/ng0897-372.
4	A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet. 2005 Mar;42(3):e19. doi: 10.1136/jmg.2004.021030.
5	Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. J Invest Dermatol. 1999 Oct;113(4):607-12. doi: 10.1046/j.1523-1747.1999.00722.x.