Genetic diseases, Rare diseases, Skin diseases categories
Aliases & Descriptions for Monilethrix:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Rare skin diseases
Characteristics (Orphanet epidemiological data):51
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
OMIM:49 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 pili torti and hypotrichosis, and has symptoms including abnormality of the eyebrow, hyperkeratosis and alopecia. An important gene associated with Monilethrix is KRT83 (Keratin 83, Type II), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include skin and cortex, and related mouse phenotypes are pigmentation and integument.
Genetics Home Reference:23 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:45 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:67 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:68 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:51 (show all 18)
HPO human phenotypes related to Monilethrix:(show all 21)
MalaCards organs/tissues related to Monilethrix:33
Articles related to Monilethrix:(show top 50) (show all 109)
UniProtKB/Swiss-Prot genetic disease variations for Monilethrix:67 (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:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet