OLMS
MCID: OLM001
MIFTS: 32

Olmsted Syndrome (OLMS) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Olmsted Syndrome

Aliases & Descriptions for Olmsted Syndrome:

Name: Olmsted Syndrome 54 50 24 56 66 13
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 56 66 29
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 24 69
Olms 24 66
Mutilating Palmoplantar Hyperkeratosis with Periorificial Keratotic Plaques 56
Palmoplantar and Periorificial Keratoderma 56

Characteristics:

Orphanet epidemiological data:

56
mutilating palmoplantar keratoderma with periorificial keratotic plaques
Inheritance: Autosomal dominant,Not applicable,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
olmsted syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 614594
Orphanet 56 ORPHA659
UMLS via Orphanet 70 C2609071
ICD10 via Orphanet 34 Q82.8
MedGen 40 C2609071
MeSH 42 D007645

Summaries for Olmsted Syndrome

NIH Rare Diseases : 50 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 pruritus, hyperhidrosis and corneal opacity. 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 : 54 Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and... (614594) more...

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 olmsted syndrome, x-linked 12.2
2 palmoplantar keratoderma, epidermolytic 10.8
3 ciliary dyskinesia, primary, 5 9.8 MBTPS2 TRPV3
4 squamous cell carcinoma 9.7
5 erythromelalgia 9.7
6 cone-rod dystrophy 9.7 MBTPS2 TRPV3
7 melanoma 9.6
8 adenocarcinoma 9.6
9 hypotrichosis 9.6

Graphical network of the top 20 diseases related to Olmsted Syndrome:



Diseases related to Olmsted Syndrome

Symptoms & Phenotypes for Olmsted Syndrome

Symptoms by clinical synopsis from OMIM:

614594

Clinical features from OMIM:

614594

Human phenotypes related to Olmsted Syndrome:

32 (show all 12)
id Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 hyperhidrosis 32 HP:0000975
3 corneal opacity 32 HP:0007957
4 flexion contracture 32 HP:0001371
5 palmoplantar keratoderma 32 HP:0000982
6 parakeratosis 32 HP:0001036
7 nail dystrophy 32 HP:0008404
8 opacification of the corneal stroma 32 HP:0007759
9 sparse hair 32 HP:0008070
10 nail dysplasia 32 HP:0002164
11 subungual hyperkeratosis 32 HP:0008392
12 alopecia universalis 32 HP:0002289

Drugs & Therapeutics for Olmsted Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Epidemiology of Barrett's Esophagus: A Population Based Study Completed NCT01286155

Search NIH Clinical Center for Olmsted Syndrome

Genetic Tests for Olmsted Syndrome

Genetic tests related to Olmsted Syndrome:

id Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 29 24 TRPV3

Anatomical Context for Olmsted Syndrome

MalaCards organs/tissues related to Olmsted Syndrome:

39
Skin, Eye, Lung

Publications for Olmsted Syndrome

Articles related to Olmsted Syndrome:

(show top 50) (show all 52)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 TRPV3 p.Gly573Cys VAR_067920 rs199473704
2 TRPV3 p.Gly573Ser VAR_067921 rs199473704
3 TRPV3 p.Trp692Gly VAR_067922 rs199473705

ClinVar genetic disease variations for Olmsted Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TRPV3 NM_145068.3(TRPV3): c.1717G> A (p.Gly573Ser) single nucleotide variant Pathogenic rs199473704 GRCh37 Chromosome 17, 3427518: 3427518
2 TRPV3 NM_145068.3(TRPV3): c.1717G> T (p.Gly573Cys) single nucleotide variant Pathogenic rs199473704 GRCh37 Chromosome 17, 3427518: 3427518
3 TRPV3 NM_145068.3(TRPV3): c.2074T> G (p.Trp692Gly) single nucleotide variant Pathogenic rs199473705 GRCh37 Chromosome 17, 3421881: 3421881
4 TRPV3 NM_145068.3(TRPV3): c.2017C> T (p.Leu673Phe) single nucleotide variant Pathogenic rs786205868 GRCh37 Chromosome 17, 3421938: 3421938

Expression for Olmsted Syndrome

Search GEO for disease gene expression data for Olmsted Syndrome.

Pathways for Olmsted Syndrome

GO Terms for Olmsted Syndrome

Sources for Olmsted Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....