Categories: Genetic diseases, Rare diseases, Skin diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 25GTR, 28ICD10, 43NCIt, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Monilethrix:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
ICD10: 29 28
Rare skin diseases
OMIM:50 Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile,... (158000) more...
MalaCards based summary: Monilethrix, also known as beaded hair, is related to hypotrichosis 6 and ocular motility disease, and has symptoms including abnormality of the eyebrow, hyperkeratosis and alopecia. An important gene associated with Monilethrix is KRT83 (Keratin 83), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin and cortex.
Genetics Home Reference:24 Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microscope, the beaded appearance is due to periodic narrowing of the hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily.
NIH Rare Diseases:46 Monilethrix is a rare condition caused by a defect in the hair shaft resulting in hair which appears dry, dull, and brittle, and which breaks spontaneously or with mild trauma. the age of onset, severity, and course may vary from person to person. last updated: 10/5/2015
UniProtKB/Swiss-Prot:68 Monilethrix: A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.
Wikipedia:69 Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in... more...
Symptoms by clinical synopsis from OMIM:158000
Clinical features from OMIM:158000
Symptoms:52 (show all 14)
HPO human phenotypes related to Monilethrix:(show all 18)
MalaCards organs/tissues related to Monilethrix:34
Articles related to Monilethrix:(show top 50) (show all 111)
UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:68 (show all 13)
Clinvar genetic disease variations for Monilethrix:5
Search GEO for disease gene expression data for Monilethrix.
Cellular components related to Monilethrix according to GeneCards Suite gene sharing:
Biological processes related to Monilethrix according to GeneCards Suite gene sharing:(show all 8)
Molecular functions related to Monilethrix according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet