MCID: OLM001
MIFTS: 37

Olmsted Syndrome malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Olmsted Syndrome

About this section


NIH Rare Diseases:41 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 keratoderma and olmsted syndrome, x-linked, 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). The compound cholesterol have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related mouse phenotype integument.

OMIM:45 Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and... (614594) more...

Wikipedia:63 Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of... more...

Aliases & Classifications for Olmsted Syndrome

About this section
Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 60UMLS, 20GeneTests, 22GTR, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Olmsted Syndrome, Aliases & Descriptions:

Name: Olmsted Syndrome 45 10 41 47
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 41 20 47 22
Mutilating Palmoplantar Hyperkeratosis with Periorificial Keratotic Plaques 41 47
 
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 45 60
Palmoplantar and Periorificial Keratoderma 41 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
mutilating palmoplantar keratoderma with periorificial keratotic plaques:
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 614594
Orphanet47 659
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet61 C2609071

Related Diseases for Olmsted Syndrome

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

614594

Clinical features from OMIM:

614594

Symptoms:

 47 (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 26)
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 sparse hair rare (5%) HP:0008070
20 autosomal dominant inheritance HP:0000006
21 pruritus HP:0000989
22 parakeratosis HP:0001036
23 flexion contracture HP:0001371
24 nail dysplasia HP:0002164
25 subungual hyperkeratosis HP:0008392
26 nail dystrophy HP:0008404

Drugs & Therapeutics for Olmsted Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Olmsted Syndrome

Search NIH Clinical Center for Olmsted Syndrome

Genetic Tests for Olmsted Syndrome

About this section

Genetic tests related to Olmsted Syndrome:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques20 22 TRPV3

Anatomical Context for Olmsted Syndrome

About this section

MalaCards organs/tissues related to Olmsted Syndrome:

31
Skin, Eye, Bone, Lung, Tongue

Animal Models for Olmsted Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Olmsted Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.3TRPV3, LOR

Publications for Olmsted Syndrome

About this section

Articles related to Olmsted Syndrome:

(show all 43)
idTitleAuthorsYear
1
Olmsted syndrome: clinical, molecular and therapeutic aspects. (25886873)
2015
2
Olmsted syndrome with oral involvement, including premature teeth loss. (24474548)
2014
3
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. (24463422)
2014
4
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. (24758389)
2014
5
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. (24606194)
2014
6
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. (24452206)
2014
7
Olmsted syndrome. (23858339)
2013
8
Recurrent splice-site mutation inA MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. (24313295)
2013
9
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. (22931912)
2013
10
Olmsted syndrome: exploration of the immunological phenotype. (23692804)
2013
11
Olmsted syndrome. (23320205)
2012
12
Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome. (22835024)
2012
13
Olmsted syndrome: a new case complicated with easily broken hair and treated with oral retinoid. (22414321)
2012
14
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. (22405088)
2012
15
Olmsted syndrome: report of two cases. (22121289)
2011
16
A case of Olmsted syndrome. (20876042)
2010
17
Nonmutilating palmoplantar and periorificial kertoderma: a variant of Olmsted syndrome or a distinct entity? (20618471)
2010
18
Olmsted syndrome: a case report and review of literature. (18412857)
2008
19
Palmoplantar keratoderma and skin grafting: postsurgical long-term follow-up of two cases with Olmsted syndrome. (18429785)
2008
20
Olmsted syndrome. (19881998)
2008
21
Olmsted syndrome. (17344790)
2007
22
Olmsted syndrome in an Iranian family: report of two new cases. (17367233)
2007
23
Olmsted syndrome: report of a new case with unusual features. (16197376)
2005
24
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. (16227106)
2005
25
What syndrome is this? Olmsted syndrome. (15461772)
2004
26
Olmsted syndrome--a rare syndrome with oral manifestations. (15153872)
2004
27
Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation. (14721769)
2003
28
Olmsted syndrome-palmoplantar and periorificial keratodermas: association with malignant melanoma. (12704531)
2003
29
Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma. (12869154)
2003
30
Olmsted syndrome. (11401671)
2001
31
Olmsted syndrome: report of a case with study of the cellular proliferation in keratoderma. (11801792)
2001
32
A further case of plantar squamous cell carcinoma arising in Olmsted syndrome. (11703312)
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
Partial improvement of Olmsted syndrome with etretinate. (8302745)
1993
43
Olmsted syndrome--congenital palmoplantar and periorificial keratoderma. (6232300)
1984

Variations for Olmsted Syndrome

About this section

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

62
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 Variation Type Significance SNP ID Assembly Location
1MBTPS2NM_015884.3(MBTPS2): c.1391T> C (p.Phe464Ser)single nucleotide variantPathogenicGRCh37Chr X, 21900604: 21900604
2TRPV3NM_145068.3(TRPV3): c.1717G> A (p.Gly573Ser)single nucleotide variantPathogenicrs199473704GRCh37Chr 17, 3427518: 3427518
3TRPV3NM_145068.3(TRPV3): c.1717G> T (p.Gly573Cys)single nucleotide variantPathogenicrs199473704GRCh37Chr 17, 3427518: 3427518
4TRPV3NM_145068.3(TRPV3): c.2074T> G (p.Trp692Gly)single nucleotide variantPathogenicrs199473705GRCh37Chr 17, 3421881: 3421881

Expression for genes affiliated with Olmsted Syndrome

About this section
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:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank
See all sources

Compounds related to Olmsted Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cholesterol43 28 24 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
  • Proteins
  • Kits and Assays

Sources for Olmsted Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet