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Disease Monilethrix

Name Monilethrix
Synonyms Hair, Nodose | Hairs, Nodose | MNLIX | Monilethrices | Nodose Hair | Nodose Hairs
Definition Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.
Categories Congenital abnormality | Genetic disease (inborn) | Skin disease
MeSH® ID D056734
OMIM® ID 158000
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1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Monilethrix Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Monilethrix Has associated chemicals Has associated genes
3. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Hair Diseases Has associated chemicals Has associated genes Monilethrix Has associated chemicals Has associated genes
4. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Monilethrix Has associated chemicals Has associated genes

Top ↑ Descendants

Monilethrix Has associated chemicals Has associated genes
  Trueb Burg Bottani syndrome