MCID: OLM001
MIFTS: 27

Olmsted Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Olmsted Syndrome

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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 based summary: Olmsted Syndrome is related to keratoderma and olmsted syndrome, x-linked, and has symptoms including 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 lung, and related mouse phenotype integument.

Wikipedia:65 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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Olmsted Syndrome, Aliases & Descriptions:

Name: Olmsted Syndrome 42 46 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Olmsted Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1keratoderma10.5
2olmsted syndrome, x-linked10.4
3erythromelalgia10.2
4keratosis10.1LOR
5adenocarcinoma10.0
6hypotrichosis10.0
7melanoma10.0

Graphical network of diseases related to Olmsted Syndrome:



Diseases related to olmsted syndrome

Symptoms for Olmsted Syndrome

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Symptoms by clinical synopsis from OMIM:

614594

Clinical features from OMIM:

614594

HPO human phenotypes related to Olmsted Syndrome:

(show all 11)
id Description Frequency HPO Source Accession
1 hyperhidrosis rare (5%) HP:0000975
2 alopecia universalis rare (5%) HP:0002289
3 opacification of the corneal stroma rare (5%) HP:0007759
4 sparse hair rare (5%) HP:0008070
5 autosomal dominant inheritance HP:0000006
6 pruritus HP:0000989
7 parakeratosis HP:0001036
8 flexion contracture HP:0001371
9 nail dysplasia HP:0002164
10 subungual hyperkeratosis HP:0008392
11 nail dystrophy HP:0008404

Drugs & Therapeutics for Olmsted Syndrome

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Drug clinical trials:

Search ClinicalTrials for Olmsted Syndrome

Search NIH Clinical Center for Olmsted Syndrome

Genetic Tests for Olmsted Syndrome

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Anatomical Context for Olmsted Syndrome

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MalaCards organs/tissues related to Olmsted Syndrome:

32
Skin, Eye, Lung

Animal Models for Olmsted Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Olmsted Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.0TRPV3, LOR

Publications for Olmsted Syndrome

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Articles related to Olmsted Syndrome:

(show all 41)
idTitleAuthorsYear
1
Olmsted syndrome with oral involvement, including premature teeth loss. (24474548)
2014
2
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. (24463422)
2014
3
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. (24758389)
2014
4
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. (24606194)
2014
5
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. (24452206)
2014
6
Olmsted syndrome. (23858339)
2013
7
Recurrent splice-site mutation inA MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. (24313295)
2013
8
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. (22931912)
2013
9
Olmsted syndrome: exploration of the immunological phenotype. (23692804)
2013
10
Olmsted syndrome. (23320205)
2012
11
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. (22835024)
2012
12
Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. (22414321)
2012
13
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. (22405088)
2012
14
Olmsted syndrome: report of two cases. (22121289)
2011
15
A case of Olmsted syndrome. (20876042)
2010
16
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? (20618471)
2010
17
Olmsted syndrome: a case report and review of literature. (18412857)
2008
18
Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome. (18429785)
2008
19
Olmsted syndrome. (19881998)
2008
20
Olmsted syndrome. (17344790)
2007
21
Olmsted syndrome: report of a new case with unusual features. (16197376)
2005
22
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. (16227106)
2005
23
What syndrome is this? Olmsted syndrome. (15461772)
2004
24
Olmsted syndrome--a rare syndrome with oral manifestations. (15153872)
2004
25
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. (14721769)
2003
26
Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma. (12704531)
2003
27
Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma. (12869154)
2003
28
Olmsted syndrome. (11401671)
2001
29
Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma. (11801792)
2001
30
A further case of plantar squamous cell carcinoma arising in Olmsted syndrome. (11703312)
2001
31
Olmsted syndrome. (20921671)
1999
32
Olmsted syndrome: report of a new case. (9217830)
1997
33
Olmsted syndrome with hypotrichosis. (20944293)
1997
34
Keratin expression in Olmsted syndrome. (9080906)
1997
35
The Olmsted syndrome. (9199984)
1997
36
Olmsted syndrome. Case report and identification of a keratin abnormality. (8678572)
1996
37
Olmsted syndrome in twins. (7778937)
1995
38
Olmsted syndrome. (7640195)
1995
39
The Olmsted syndrome: mutilating palmoplantar and periorificial keratoderma. (8077485)
1994
40
Partial improvement of Olmsted syndrome with etretinate. (8302745)
1993
41
Olmsted syndrome--congenital palmoplantar and periorificial keratoderma. (6232300)
1984

Variations for Olmsted Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Olmsted Syndrome:

64
id Symbol AA change Variation ID SNP ID
1TRPV3p.Gly573CysVAR_067920rs199473704
2TRPV3p.Gly573SerVAR_067921rs199473704
3TRPV3p.Trp692GlyVAR_067922rs199473705

Clinvar genetic disease variations for Olmsted Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1TRPV3NM_145068.3(TRPV3): c.1717G> A (p.Gly573Ser)single nucleotide variantPathogenicrs199473704GRCh37Chr 17, 3427518: 3427518
2TRPV3NM_145068.3(TRPV3): c.1717G> T (p.Gly573Cys)single nucleotide variantPathogenicrs199473704GRCh37Chr 17, 3427518: 3427518
3TRPV3NM_145068.3(TRPV3): c.2074T> G (p.Trp692Gly)single nucleotide variantPathogenicrs199473705GRCh37Chr 17, 3421881: 3421881

Expression for genes affiliated with Olmsted Syndrome

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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, 24HMDB, 11DrugBank
See all sources

Compounds related to Olmsted Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cholesterol44 28 24 1112.1MBTPS2, 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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet