MCID: OLM001
MIFTS: 33

Olmsted Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Olmsted Syndrome

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Olmsted Syndrome:

Name: Olmsted Syndrome 51 47 24 53 69 12
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 53 69 26
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 24 67
 
Olms 24 69
Mutilating Palmoplantar Hyperkeratosis with Periorificial Keratotic Plaques 53
Palmoplantar and Periorificial Keratoderma 53

Characteristics:

Orphanet epidemiological data:

53
olmsted syndrome:
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
olmsted syndrome:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

OMIM51 614594
Orphanet53 ORPHA659
UMLS via Orphanet68 C2609071
ICD10 via Orphanet30 Q82.8
MedGen36 C2609071
MeSH38 D007645

Summaries for Olmsted Syndrome

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NIH Rare Diseases:47 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 lung.

UniProtKB/Swiss-Prot:69 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.

OMIM:51 Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and... (614594) more...

Wikipedia:70 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Related Diseases for Olmsted Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1olmsted syndrome, x-linked12.2
2palmoplantar keratoderma, epidermolytic10.9
3erythromelalgia9.8
4adenocarcinoma9.6
5hypotrichosis9.6
6cone-rod dystrophy9.5MBTPS2, TRPV3

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

Human phenotypes related to Olmsted Syndrome:

 63 (show all 26)
id Description HPO Frequency HPO Source Accession
1 hypohidrosis63 hallmark (90%) HP:0000966
2 palmoplantar keratoderma63 hallmark (90%) HP:0000982
3 abnormality of the fingernails63 hallmark (90%) HP:0001231
4 limitation of joint mobility63 hallmark (90%) HP:0001376
5 sensorineural hearing impairment63 typical (50%) HP:0000407
6 carious teeth63 typical (50%) HP:0000670
7 abnormality of bone mineral density63 typical (50%) HP:0004348
8 reduced number of teeth63 typical (50%) HP:0009804
9 skin ulcer63 typical (50%) HP:0200042
10 seizures63 occasional (7.5%) HP:0001250
11 alopecia63 occasional (7.5%) HP:0001596
12 osteolysis63 occasional (7.5%) HP:0002797
13 melanoma63 occasional (7.5%) HP:0002861
14 neoplasm of the skin63 occasional (7.5%) HP:0008069
15 neoplasm of the lung63 occasional (7.5%) HP:0100526
16 hyperhidrosis63 rare (5%) HP:0000975
17 alopecia universalis63 rare (5%) HP:0002289
18 opacification of the corneal stroma63 rare (5%) HP:0007759
19 corneal opacity63 rare (5%) HP:0007957
20 sparse hair63 rare (5%) HP:0008070
21 pruritus63 HP:0000989
22 parakeratosis63 HP:0001036
23 flexion contracture63 HP:0001371
24 nail dysplasia63 HP:0002164
25 subungual hyperkeratosis63 HP:0008392
26 nail dystrophy63 HP:0008404

Drugs & Therapeutics for Olmsted Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Epidemiology of Barrett's Esophagus: A Population Based StudyCompletedNCT01286155

Search NIH Clinical Center for Olmsted Syndrome

Genetic Tests for Olmsted Syndrome

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Genetic tests related to Olmsted Syndrome:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques26 24 TRPV3

Anatomical Context for Olmsted Syndrome

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MalaCards organs/tissues related to Olmsted Syndrome:

35
Skin, Eye, Lung, Bone

Animal Models for Olmsted Syndrome or affiliated genes

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Publications for Olmsted Syndrome

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Articles related to Olmsted Syndrome:

(show all 50)
idTitleAuthorsYear
1
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes. (27754757)
2016
2
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. (26902751)
2016
3
Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats. (28024685)
2016
4
Olmsted Syndrome: Rare Occurrence in Four Siblings. (27293270)
2016
5
Semidominant Inheritance in Olmsted Syndrome. (27189830)
2016
6
Expanding the Phenotypic Spectrum of Olmsted Syndrome. (26067147)
2015
7
Olmsted syndrome: clinical, molecular and therapeutic aspects. (25886873)
2015
8
Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3. (25989441)
2015
9
Olmsted syndrome with oral involvement, including premature teeth loss. (24474548)
2014
10
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. (24758389)
2014
11
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. (24463422)
2014
12
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. (24606194)
2014
13
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. (24452206)
2014
14
Recurrent splice-site mutation inA MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. (24313295)
2013
15
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. (22931912)
2013
16
Olmsted syndrome: exploration of the immunological phenotype. (23692804)
2013
17
Olmsted syndrome. (23858339)
2013
18
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. (22835024)
2012
19
Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. (22414321)
2012
20
Olmsted syndrome. (23320205)
2012
21
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. (22405088)
2012
22
Olmsted syndrome: report of two cases. (22121289)
2011
23
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? (20618471)
2010
24
A case of Olmsted syndrome. (20876042)
2010
25
Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome. (18429785)
2008
26
Olmsted syndrome: a case report and review of literature. (18412857)
2008
27
Olmsted syndrome. (19881998)
2008
28
Olmsted syndrome in an Iranian family: report of two new cases. (17367233)
2007
29
Olmsted syndrome. (17344790)
2007
30
Olmsted syndrome: report of a new case with unusual features. (16197376)
2005
31
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. (16227106)
2005
32
Olmsted syndrome--a rare syndrome with oral manifestations. (15153872)
2004
33
What syndrome is this? Olmsted syndrome. (15461772)
2004
34
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. (14721769)
2003
35
Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma. (12704531)
2003
36
Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma. (12869154)
2003
37
Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma. (11801792)
2001
38
Olmsted syndrome. (11401671)
2001
39
A further case of plantar squamous cell carcinoma arising in Olmsted syndrome. (11703312)
2001
40
Olmsted syndrome. (20921671)
1999
41
Olmsted syndrome: report of a new case. (9217830)
1997
42
Olmsted syndrome with hypotrichosis. (20944293)
1997
43
Keratin expression in Olmsted syndrome. (9080906)
1997
44
The Olmsted syndrome. (9199984)
1997
45
Olmsted syndrome. Case report and identification of a keratin abnormality. (8678572)
1996
46
Olmsted syndrome in twins. (7778937)
1995
47
Olmsted syndrome. (7640195)
1995
48
The Olmsted syndrome: mutilating palmoplantar and periorificial keratoderma. (8077485)
1994
49
Partial improvement of Olmsted syndrome with etretinate. (8302745)
1993
50
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:

69
id Symbol AA change Variation ID SNP ID
1TRPV3p.Gly573CysVAR_067920rs199473704
2TRPV3p.Gly573SerVAR_067921rs199473704
3TRPV3p.Trp692GlyVAR_067922rs199473705

Clinvar genetic disease variations for Olmsted Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TRPV3NM_145068.3(TRPV3): c.2017C> T (p.Leu673Phe)SNVPathogenicrs786205868GRCh37Chr 17, 3421938: 3421938
2TRPV3NM_145068.3(TRPV3): c.1717G> A (p.Gly573Ser)SNVPathogenicrs199473704GRCh37Chr 17, 3427518: 3427518
3TRPV3NM_145068.3(TRPV3): c.1717G> T (p.Gly573Cys)SNVPathogenicrs199473704GRCh37Chr 17, 3427518: 3427518
4TRPV3NM_145068.3(TRPV3): c.2074T> G (p.Trp692Gly)SNVPathogenicrs199473705GRCh37Chr 17, 3421881: 3421881

Expression for genes affiliated with Olmsted Syndrome

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Search GEO for disease gene expression data for Olmsted Syndrome.

Pathways for genes affiliated with Olmsted Syndrome

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GO Terms for genes affiliated with Olmsted Syndrome

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Sources for Olmsted Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet