MCID: OLM001
MIFTS: 37

Olmsted Syndrome malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Olmsted Syndrome

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 olmsted syndrome, x-linked, and has symptoms including anomalies of tongue, gingiva and oral mucosa, alopecia and seizures/epilepsy/absences/spasms/status epilepticus. 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 bone, and related mouse phenotype integument.

Wikipedia:66 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Description from OMIM:48 614594,300918

Aliases & Classifications for Olmsted Syndrome

About this section
Sources:
44NIH Rare Diseases, 48OMIM, 50Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
olmsted syndrome:
Inheritance: Autosomal dominant,Sporadic,X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

olmsted syndrome 44 48 50
mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques 50
mutilating palmoplantar keratoderma with periorificial keratotic plaques 50
palmoplantar and periorificial keratoderma 50


External Ids:

ICD10 via Orphanet27 Q82.8
UMLS via Orphanet64 C2609071

Related Diseases for Olmsted Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

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

Graphical network of diseases related to Olmsted Syndrome:



Diseases related to olmsted syndrome

Symptoms for Olmsted Syndrome

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

614594

Clinical features from OMIM:

614594,300918

Symptoms:

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

Drugs & Therapeutics for Olmsted Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Olmsted Syndrome

Drug clinical trials:

Search ClinicalTrials for Olmsted Syndrome

Search NIH Clinical Center for Olmsted Syndrome

Search CenterWatch for Olmsted Syndrome

Genetic Tests for Olmsted Syndrome

About this section

Anatomical Context for Olmsted Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Olmsted Syndrome:

34
Skin, Eye, Bone, Lung, Tongue

Animal Models for Olmsted Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Olmsted Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.3TRPV3, LOR

Publications for Olmsted Syndrome

About this section
Sources:
53PubMed
See all sources

Articles related to Olmsted Syndrome:

(show all 37)
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
Olmsted syndrome. (23320205)
2012
6
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. (22835024)
2012
7
Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. (22414321)
2012
8
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. (22405088)
2012
9
Olmsted syndrome: report of two cases. (22121289)
2011
10
A case of Olmsted syndrome. (20876042)
2010
11
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? (20618471)
2010
12
Olmsted syndrome: a case report and review of literature. (18412857)
2008
13
Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome. (18429785)
2008
14
Olmsted syndrome. (19881998)
2008
15
Olmsted syndrome. (17344790)
2007
16
Olmsted syndrome in an Iranian family: report of two new cases. (17367233)
2007
17
Olmsted syndrome: report of a new case with unusual features. (16197376)
2005
18
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. (16227106)
2005
19
What syndrome is this? Olmsted syndrome. (15461772)
2004
20
Olmsted syndrome--a rare syndrome with oral manifestations. (15153872)
2004
21
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. (14721769)
2003
22
Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma. (12704531)
2003
23
Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma. (12869154)
2003
24
Olmsted syndrome. (11401671)
2001
25
Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma. (11801792)
2001
26
A further case of plantar squamous cell carcinoma arising in Olmsted syndrome. (11703312)
2001
27
Olmsted syndrome. (20921671)
1999
28
Olmsted syndrome: report of a new case. (9217830)
1997
29
Olmsted syndrome with hypotrichosis. (20944293)
1997
30
Keratin expression in Olmsted syndrome. (9080906)
1997
31
The Olmsted syndrome. (9199984)
1997
32
Olmsted syndrome. Case report and identification of a keratin abnormality. (8678572)
1996
33
Olmsted syndrome in twins. (7778937)
1995
34
Olmsted syndrome. (7640195)
1995
35
The Olmsted syndrome: mutilating palmoplantar and periorificial keratoderma. (8077485)
1994
36
Partial improvement of Olmsted syndrome with etretinate. (8302745)
1993
37
Olmsted syndrome--congenital palmoplantar and periorificial keratoderma. (6232300)
1984

Variations for Olmsted Syndrome

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
id Symbol AA change Variation ID SNP ID
1TRPV3p.Gly573CysVAR_067920rs199473704
2TRPV3p.Gly573SerVAR_067921rs199473704
3TRPV3p.Trp692GlyVAR_067922rs199473705

Clinvar genetic disease variations for Olmsted Syndrome:

1
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Olmsted Syndrome

About this section
Sources:
46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank
See all sources

Compounds related to Olmsted Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cholesterol46 30 25 1212.1MBTPS2, LOR

GO Terms for genes affiliated with Olmsted Syndrome

About this section

Products for genes affiliated with Olmsted Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Olmsted Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet