MCID: OLM001
MIFTS: 31

Olmsted Syndrome malady

Skin diseases category

Summaries for Olmsted Syndrome

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Olmsted Syndrome, also known as mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques, is related to squamous cell carcinoma and adenocarcinoma, and has symptoms including anomalies of tongue, gingiva and oral mucosa, alopecia and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Olmsted Syndrome is TRPV3 (transient receptor potential cation channel, subfamily V, member 3). The compound cholesterol have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone.

Wikipedia:63 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM:46 614594

Aliases & Classifications for Olmsted Syndrome

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Sources:
42NIH Rare Diseases, 46OMIM, 48Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

48
olmsted syndrome:
Inheritance: Autosomal dominant,Sporadic,X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

olmsted syndrome 42 46 48
mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques 48
mutilating palmoplantar keratoderma with periorificial keratotic plaques 48
palmoplantar and periorificial keratoderma 48


External Ids:

OMIM46 614594
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet61 C2609071

Related Diseases for Olmsted Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Olmsted Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1squamous cell carcinoma10.1
2adenocarcinoma10.0
3hypotrichosis10.0
4lung adenocarcinoma10.0
5lung squamous cell carcinoma10.0
6melanoma10.0
7keratoderma10.0LOR
8alopecia10.0MBTPS2
9dermatitis10.0LOR
10keratosis10.0LOR

Graphical network of diseases related to Olmsted Syndrome:



Diseases related to olmsted syndrome

Clinical Features for Olmsted Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

614594

Clinical synopsis from OMIM:

614594

Symptoms:

48 (show all 22)
  • anomalies of tongue, gingiva and oral mucosa
  • alopecia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • osteolysis/osteoclasia/bone destruction/erosions
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • melanoma
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • bone/osseous hyperplasia
  • chronic skin infection/ulcerations/ulcers/cancrum
  • sensorineural deafness/hearing loss
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • palmoplantar hyperkeratosis/keratoderma
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • thick skin/pachydermia/orange skin
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • abnormal fingernails
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal dominant inheritance
  • anomalies of teeth and dentition
  • anodontia/oligodontia/hypodontia
  • multiple caries
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance

Drugs & Therapeutics for Olmsted Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Olmsted Syndrome

Drug clinical trials:

Search ClinicalTrials for Olmsted Syndrome

Search NIH Clinical Center for Olmsted Syndrome

Search CenterWatch for Olmsted Syndrome

Genetic Tests for Olmsted Syndrome

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Anatomical Context for Olmsted Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Olmsted Syndrome:

32
Skin, Eye, Bone, Tongue, Lung

Animal Models for Olmsted Syndrome or affiliated genes

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Publications for Olmsted Syndrome

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Genetic Variations for Olmsted Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Olmsted Syndrome:

62
id Symbol AA change Variation ID SNP ID
1TRPV3p.Gly573CysVAR_067920rs199473704
2TRPV3p.Gly573SerVAR_067921rs199473704
3TRPV3p.Trp692GlyVAR_067922rs199473705

Expression for genes affiliated with Olmsted Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Olmsted Syndrome

Search GEO for disease gene expression data for Olmsted Syndrome.

Pathways for genes affiliated with Olmsted Syndrome

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Compounds for genes affiliated with Olmsted Syndrome

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Olmsted Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cholesterol44 28 11 2412.1MBTPS2, LOR

GO Terms for genes affiliated with Olmsted Syndrome

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Products for genes affiliated with Olmsted Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Olmsted Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet