OLMS
MCID: OLM001
MIFTS: 32

Olmsted Syndrome (OLMS) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Olmsted Syndrome

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Olmsted Syndrome:

Name: Olmsted Syndrome 52 48 24 54 70 12
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 54 70 27
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 24 68
 
Olms 24 70
Mutilating Palmoplantar Hyperkeratosis with Periorificial Keratotic Plaques 54
Palmoplantar and Periorificial Keratoderma 54

Characteristics:

Orphanet epidemiological data:

54
olmsted syndrome:
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
olmsted syndrome:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 614594
Orphanet54 ORPHA659
UMLS via Orphanet69 C2609071
ICD10 via Orphanet31 Q82.8
MedGen37 C2609071
MeSH39 D007645

Summaries for Olmsted Syndrome

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NIH Rare Diseases:48 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 hyperhidrosis, palmoplantar keratoderma and pruritus. 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.

OMIM:52 Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and... (614594) more...

UniProtKB/Swiss-Prot:70 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:71 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, epidermolytic10.8
3ciliary dyskinesia, primary, 59.8MBTPS2, TRPV3
4squamous cell carcinoma9.7
5erythromelalgia9.7
6cone-rod dystrophy9.7MBTPS2, TRPV3
7melanoma9.6
8adenocarcinoma9.6
9hypotrichosis9.6

Graphical network of diseases related to Olmsted Syndrome:



Diseases related to olmsted syndrome

Symptoms & Phenotypes 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:

 64 (show all 12)
id Description HPO Frequency HPO Source Accession
1 hyperhidrosis64 HP:0000975
2 palmoplantar keratoderma64 HP:0000982
3 pruritus64 HP:0000989
4 parakeratosis64 HP:0001036
5 flexion contracture64 HP:0001371
6 nail dysplasia64 HP:0002164
7 alopecia universalis64 HP:0002289
8 opacification of the corneal stroma64 HP:0007759
9 corneal opacity64 HP:0007957
10 sparse hair64 HP:0008070
11 subungual hyperkeratosis64 HP:0008392
12 nail dystrophy64 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 Plaques27 24 TRPV3

Anatomical Context for Olmsted Syndrome

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MalaCards organs/tissues related to Olmsted Syndrome:

36
Skin, Eye, Lung

Publications for Olmsted Syndrome

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Articles related to Olmsted Syndrome:

(show top 50)    (show all 52)
idTitleAuthorsYear
1
Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3. (28391651)
2017
2
Olmsted Syndrome in a Family. (28442872)
2016
3
Olmsted Syndrome: Rare Occurrence in Four Siblings. (27293270)
2016
4
Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats. (28024685)
2016
5
Semidominant Inheritance in Olmsted Syndrome. (27189830)
2016
6
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes. (27754757)
2016
7
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. (26902751)
2016
8
Olmsted syndrome: clinical, molecular and therapeutic aspects. (25886873)
2015
9
Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3. (25989441)
2015
10
Expanding the Phenotypic Spectrum of Olmsted Syndrome. (26067147)
2015
11
Olmsted syndrome with oral involvement, including premature teeth loss. (24474548)
2014
12
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. (24758389)
2014
13
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. (24463422)
2014
14
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. (24452206)
2014
15
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. (24606194)
2014
16
Olmsted syndrome: exploration of the immunological phenotype. (23692804)
2013
17
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. (22931912)
2013
18
Recurrent splice-site mutation inA MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. (24313295)
2013
19
Olmsted syndrome. (23858339)
2013
20
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. (22405088)
2012
21
Olmsted syndrome. (23320205)
2012
22
Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. (22414321)
2012
23
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. (22835024)
2012
24
Olmsted syndrome: report of two cases. (22121289)
2011
25
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? (20618471)
2010
26
A case of Olmsted syndrome. (20876042)
2010
27
Olmsted syndrome: a case report and review of literature. (18412857)
2008
28
Olmsted syndrome. (19881998)
2008
29
Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome. (18429785)
2008
30
Olmsted syndrome. (17344790)
2007
31
Olmsted syndrome in an Iranian family: report of two new cases. (17367233)
2007
32
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. (16227106)
2005
33
Olmsted syndrome: report of a new case with unusual features. (16197376)
2005
34
Olmsted syndrome--a rare syndrome with oral manifestations. (15153872)
2004
35
What syndrome is this? Olmsted syndrome. (15461772)
2004
36
Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma. (12869154)
2003
37
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. (14721769)
2003
38
Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma. (12704531)
2003
39
Olmsted syndrome. (11401671)
2001
40
Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma. (11801792)
2001
41
A further case of plantar squamous cell carcinoma arising in Olmsted syndrome. (11703312)
2001
42
Olmsted syndrome. (20921671)
1999
43
Keratin expression in Olmsted syndrome. (9080906)
1997
44
The Olmsted syndrome. (9199984)
1997
45
Olmsted syndrome: report of a new case. (9217830)
1997
46
Olmsted syndrome with hypotrichosis. (20944293)
1997
47
Olmsted syndrome. Case report and identification of a keratin abnormality. (8678572)
1996
48
Olmsted syndrome in twins. (7778937)
1995
49
Olmsted syndrome. (7640195)
1995
50
The Olmsted syndrome: mutilating palmoplantar and periorificial keratoderma. (8077485)
1994

Variations for Olmsted Syndrome

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

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet