MCID: OLM001
MIFTS: 38

Olmsted Syndrome malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Olmsted Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Olmsted Syndrome:

Name: Olmsted Syndrome 49 11 45 22 51 67
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 51 24 67
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 22 65
 
Olms 22 67
Mutilating Palmoplantar Hyperkeratosis with Periorificial Keratotic Plaques 51
Palmoplantar and Periorificial Keratoderma 51


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
olmsted syndrome:
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 614594
Orphanet51 659
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C2609071
MedGen34 C2609071
MeSH36 D007645

Summaries for Olmsted Syndrome

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NIH Rare Diseases:45 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 erythromelalgia, 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 bone.

OMIM:49 Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and... (614594) more...

UniProtKB/Swiss-Prot:67 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:68 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:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1olmsted syndrome, x-linked10.5
2erythromelalgia10.2
3hypertension, essential10.1
4hypertension, diastolic10.1
5toxocariasis10.1
6palmoplantar keratoderma, epidermolytic10.1
7adenocarcinoma10.1
8hypotrichosis10.1
9melanoma10.1
10alpha 1-antitrypsin deficiency9.8MBTPS2, TRPV3
11chime syndrome9.8MBTPS2, TRPV3
12otosclerosis 49.7MBTPS2, 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

Symptoms:

 51 (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)

HPO human phenotypes related to Olmsted Syndrome:

(show all 28)
id Description Frequency HPO Source Accession
1 hypohidrosis hallmark (90%) HP:0000966
2 palmoplantar keratoderma hallmark (90%) HP:0000982
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 limitation of joint mobility hallmark (90%) HP:0001376
5 sensorineural hearing impairment typical (50%) HP:0000407
6 carious teeth typical (50%) HP:0000670
7 abnormality of bone mineral density typical (50%) HP:0004348
8 reduced number of teeth typical (50%) HP:0009804
9 skin ulcer typical (50%) HP:0200042
10 seizures occasional (7.5%) HP:0001250
11 alopecia occasional (7.5%) HP:0001596
12 osteolysis occasional (7.5%) HP:0002797
13 melanoma occasional (7.5%) HP:0002861
14 neoplasm of the skin occasional (7.5%) HP:0008069
15 neoplasm of the lung occasional (7.5%) HP:0100526
16 hyperhidrosis rare (5%) HP:0000975
17 alopecia universalis rare (5%) HP:0002289
18 opacification of the corneal stroma rare (5%) HP:0007759
19 corneal opacity rare (5%) HP:0007957
20 sparse hair rare (5%) HP:0008070
21 autosomal dominant inheritance HP:0000006
22 palmoplantar keratoderma HP:0000982
23 pruritus HP:0000989
24 parakeratosis HP:0001036
25 flexion contracture HP:0001371
26 nail dysplasia HP:0002164
27 subungual hyperkeratosis HP:0008392
28 nail dystrophy 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 Plaques22 24 TRPV3

Anatomical Context for Olmsted Syndrome

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MalaCards organs/tissues related to Olmsted Syndrome:

33
Skin, Eye, Bone, Lung, Tongue

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

67
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
1MBTPS2NM_015884.3(MBTPS2): c.1391T> C (p.Phe464Ser)single nucleotide variantPathogenicrs587777306GRCh37Chr X, 21900604: 21900604
2TRPV3NM_145068.3(TRPV3): c.2017C> T (p.Leu673Phe)single nucleotide variantPathogenicrs786205868GRCh37Chr 17, 3421938: 3421938
3TRPV3NM_145068.3(TRPV3): c.1717G> A (p.Gly573Ser)single nucleotide variantPathogenicrs199473704GRCh37Chr 17, 3427518: 3427518
4TRPV3NM_145068.3(TRPV3): c.1717G> T (p.Gly573Cys)single nucleotide variantPathogenicrs199473704GRCh37Chr 17, 3427518: 3427518
5TRPV3NM_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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet