Olmsted Syndrome malady
Categories: Genetic diseases, Rare diseases, Skin diseases
Aliases & Descriptions for Olmsted Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Rare skin diseases
NIH Rare Diseases:45 Olmsted syndrome is a rare congenital (present from birth) disorder characterized by symmetrical, well-defined palmoplantar keratoderma (ppk) surrounded by reddened skin and deformities of the joints that lead to constriction and spontaneous amputation; horny growths around the eyes and mouth, nail abnormalities, white thickened patches around the anus and mouth; and sparse hair. it may be complicated by multiple infections and squamous cell carcinoma. olmstead syndrome is caused by mutations in the trpv3 gene. it is transmitted through autosomal dominant inheritance. treatment includes oral and topical retinoids, such as acetretin. last updated: 11/1/2013
MalaCards based summary: Olmsted Syndrome, also known as mutilating palmoplantar keratoderma with periorificial keratotic plaques, is related to olmsted syndrome, x-linked and palmoplantar keratoderma, epidermolytic, and has symptoms including hypohidrosis, palmoplantar keratoderma and abnormality of the fingernails. An important gene associated with Olmsted Syndrome is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3). Affiliated tissues include skin, eye and bone.
OMIM:49 Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and... (614594) more...
UniProtKB/Swiss-Prot:67 Olmsted syndrome: A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes.
Wikipedia:68 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...
Symptoms by clinical synopsis from OMIM:614594
Clinical features from OMIM:614594
Symptoms:51 (show all 22)
HPO human phenotypes related to Olmsted Syndrome:(show all 27)
MalaCards organs/tissues related to Olmsted Syndrome:33
Skin, Eye, Bone, Lung, Tongue, Prostate, Heart
Articles related to Olmsted Syndrome:(show all 45)
UniProtKB/Swiss-Prot genetic disease variations for Olmsted Syndrome:67
Clinvar genetic disease variations for Olmsted Syndrome:5
Search GEO for disease gene expression data for Olmsted Syndrome.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet