MCID: OLM001
MIFTS: 30

Olmsted Syndrome malady

Skin category

Summaries for Olmsted Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 keratoderma and squamous cell carcinoma, and has symptoms including hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance, hyperkeratosis/ainhum/hyperkeratotic skin fissures and palmoplantar hyperkeratosis/keratoderma. 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 lung and skin.

Wikipedia:64 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM:47 614594

Aliases & Classifications for Olmsted Syndrome

Sources:
43NIH Rare Diseases, 47OMIM, 49Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
olmsted syndrome:
Inheritance: Autosomal dominant,Sporadic,X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

olmsted syndrome 43 47 49
mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques 49
mutilating palmoplantar keratoderma with periorificial keratotic plaques 49
palmoplantar and periorificial keratoderma 49


External Ids:

OMIM47 614594
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet62 C2609071

Related Diseases for Olmsted Syndrome

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
1keratoderma30.6LOR
2squamous cell carcinoma10.2
3n syndrome10.0
4adenocarcinoma10.0
5alopecia10.0MBTPS2
6dermatitis10.0LOR
7keratosis10.0LOR

Graphical network of diseases related to Olmsted Syndrome:



Diseases related to olmsted syndrome

Clinical Features for Olmsted Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

614594

Clinical synopsis from OMIM:

614594

Symptoms:

49 (show all 22)
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • 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
  • sensorineural deafness/hearing loss
  • chronic skin infection/ulcerations/ulcers/cancrum
  • bone/osseous hyperplasia
  • 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)

Drugs & Therapeutics for Olmsted Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Olmsted Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Olmsted Syndrome

Search CenterWatch for Olmsted Syndrome

Genetic Tests for Olmsted Syndrome

Anatomical Context for Olmsted Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Olmsted Syndrome:

33
Lung, Skin

Animal Models for Olmsted Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Olmsted Syndrome

Sources:
51PubMed
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Articles related to Olmsted Syndrome:

(show all 40)
idTitleAuthorsYear
1
Olmsted syndrome. (23858339)
2013
2
Recurrent splice-site mutation inA MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. (24313295)
2013
3
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. (22931912)
2013
4
Olmsted syndrome: exploration of the immunological phenotype. (23692804)
2013
5
Prevalence, incidence, and classification of chronic fatigue syndrome in Olmsted County, Minnesota, as estimated using the Rochester Epidemiology Project. (23140977)
2012
6
Olmsted syndrome. (23320205)
2012
7
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. (22835024)
2012
8
Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. (22414321)
2012
9
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. (22405088)
2012
10
Olmsted syndrome: report of two cases. (22121289)
2011
11
A case of Olmsted syndrome. (20876042)
2010
12
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? (20618471)
2010
13
Olmsted syndrome: a case report and review of literature. (18412857)
2008
14
Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome. (18429785)
2008
15
Olmsted syndrome. (19881998)
2008
16
Olmsted syndrome. (17344790)
2007
17
Olmsted syndrome in an Iranian family: report of two new cases. (17367233)
2007
18
Olmsted syndrome: report of a new case with unusual features. (16197376)
2005
19
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. (16227106)
2005
20
What syndrome is this? Olmsted syndrome. (15461772)
2004
21
Olmsted syndrome--a rare syndrome with oral manifestations. (15153872)
2004
22
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. (14721769)
2003
23
Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma. (12704531)
2003
24
Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma. (12869154)
2003
25
Olmsted syndrome. (11401671)
2001
26
Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma. (11801792)
2001
27
A further case of plantar squamous cell carcinoma arising in Olmsted syndrome. (11703312)
2001
28
Olmsted syndrome. (20921671)
1999
29
Olmsted syndrome: report of a new case. (9217830)
1997
30
Olmsted syndrome with hypotrichosis. (20944293)
1997
31
Keratin expression in Olmsted syndrome. (9080906)
1997
32
The Olmsted syndrome. (9199984)
1997
33
Olmsted syndrome. Case report and identification of a keratin abnormality. (8678572)
1996
34
Olmsted syndrome in twins. (7778937)
1995
35
Olmsted syndrome. (7640195)
1995
36
The Olmsted syndrome: mutilating palmoplantar and periorificial keratoderma. (8077485)
1994
37
Partial improvement of Olmsted syndrome with etretinate. (8302745)
1993
38
A population study of the natural history of Wolff-Parkinson-White syndrome in Olmsted County, Minnesota, 1953-1989. (8443907)
1993
39
Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted's syndrome). (2138494)
1990
40
Olmsted syndrome--congenital palmoplantar and periorificial keratoderma. (6232300)
1984

Genetic Variations for Olmsted Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Olmsted Syndrome:

63
id Symbol AA change Variation SNP ID
1TRPV3p.Gly573CysVAR_067920rs199473704
2TRPV3p.Gly573SerVAR_067921rs199473704
3TRPV3p.Trp692GlyVAR_067922rs199473705

Expression for genes affiliated with Olmsted Syndrome

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

Compounds for genes affiliated with Olmsted Syndrome

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Olmsted Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cholesterol45 29 11 2412.1MBTPS2, LOR

GO Terms for genes affiliated with Olmsted Syndrome

Products for genes affiliated with Olmsted Syndrome

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  • Proteins
  • Lysates
  • Antibodies

Sources for Olmsted Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet