MCID: OLM001
MIFTS: 37

Olmsted Syndrome malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Olmsted Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 24GTR, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Olmsted Syndrome:

Name: Olmsted Syndrome 49 11 45 22 51 67
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 51 67 24
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
olmsted syndrome:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 614594
Orphanet51 659
ICD10 via Orphanet28 Q82.8
UMLS via Orphanet66 C2609071
MedGen34 C2609071
MeSH36 D007645
UMLS65 C2609071

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 palmoplantar keratoderma, epidermolytic, 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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Graphical network of the top 20 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 27)
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 palmoplantar keratoderma HP:0000982
22 pruritus HP:0000989
23 parakeratosis HP:0001036
24 flexion contracture HP:0001371
25 nail dysplasia HP:0002164
26 subungual hyperkeratosis HP:0008392
27 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 TRPV3

Anatomical Context for Olmsted Syndrome

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MalaCards organs/tissues related to Olmsted Syndrome:

33
Skin, Eye, Bone, Lung, Tongue, Prostate, Heart

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 45)
idTitleAuthorsYear
1
Effects of Intravenous and Catheter Directed Thrombolytic Therapy with Recombinant Tissue Plasminogen Activator (Alteplase) in Non-Traumatic Acute Limb Ischemia; A Randomized Double-Blind Clinical Trial. (27162909)
2015
2
The Bony Obliteration Tympanoplasty in Pediatric Cholesteatoma: Long-term Safety and Hygienic Results. (26375973)
2015
3
Percutaneous carbon dioxide mist treatment has protective effects in experimental myocardial infarction. (25906762)
2015
4
Usefulness of pancreatitis-associated protein, a novel biomarker, to predict severity of disease in ambulatory patients with heart failure. (24188888)
2014
5
TNF-I+-secreting B cells contribute to myocardial fibrosis in dilated cardiomyopathy. (23558825)
2013
6
Assessment of individual dose utilization vs. physician prescribing recommendations for recombinant activated factor VII (rFVIIa) in paediatric and adult patients with congenital haemophilia and alloantibody inhibitors (CHwI): the Dosing Observational Study in Hemophilia (DOSE). (23551918)
2013
7
Prompt versus delayed amniotic membrane application in a patient with acute Stevens-Johnson syndrome. (23754867)
2013
8
Airborne allergic contact dermatitis caused by didecyldimethylammonium chloride in a geriatric nurse. (23289885)
2013
9
Distal ulnar changes in children with thalassemia and deferiprone related arthropathy. (23940095)
2013
10
Neonatal purpura fulminans manifestation in early-onset group B Streptococcal infection. (23970945)
2013
11
The Roles and Perspectives of Toll-Like Receptors and CD4(+) Helper T Cell Subsets in Acute Viral Encephalitis. (22740790)
2012
12
ANKH and renal stone formation in ankylosing spondylitis. (22859534)
2012
13
Reconstructing ancient mitochondrial DNA links between Africa and Europe. (22454235)
2012
14
Patent foramen ovale and recurrent transient neurological symptoms: a case report and review of literature. (21721458)
2011
15
Pharmacological targeting of CDK9 in cardiac hypertrophy. (19757441)
2010
16
KAP1 is associated with peritoneal carcinomatosis in gastric cancer. (19898899)
2010
17
Effect of aromatherapy on the quality of sleep in ischemic heart disease patients hospitalized in intensive care units of heart hospitals of the Isfahan University of Medical Sciences. (22049287)
2010
18
The evaluation of the oxidative stress parameters in nondiabetic and diabetic senile cataract patients. (18982249)
2009
19
Hemibody mirror movements in hemiparkinsonism-hemiatrophy syndrome. (19766249)
2009
20
Selective inhibition of 11beta-hydroxysteroid dehydrogenase 1 by 18alpha-glycyrrhetinic acid but not 18beta-glycyrrhetinic acid. (19429429)
2009
21
Ghrelin fluctuation, what determines its production? (19280057)
2009
22
Dorsal interacting protein 3 potentiates activation by Drosophila Rel homology domain proteins. (18538389)
2008
23
A Single Institution's Experience with Bevacizumab in Combination with Cytotoxic Chemotherapy in Progressive Malignant Glioma. (21892317)
2008
24
Cyclooxygenase-2 directly induces MCF-7 breast tumor cells to develop into exponentially growing, highly angiogenic and regionally invasive human ductal carcinoma xenografts. (17465194)
2007
25
Erythropoietic protoporphyria: a functional analysis of the leader sequence of human ferrochelatase. (16844398)
2006
26
Visual association memory test in differentiating early stage of Alzheimer's disease from vascular dementia. (16871896)
2006
27
Transition from preinvasive carcinoma in situ to seminoma is accompanied by a reduction of connexin 43 expression in Sertoli cells and germ cells. (16820096)
2006
28
Human placental lipid induces melanogenesis by increasing the expression of tyrosinase and its related proteins in vitro. (15649149)
2005
29
A fully functional proopiomelanocortin/melanocortin-1 receptor system regulates the differentiation of human scalp hair follicle melanocytes. (15498881)
2005
30
Localized striatal delivery of GDNF as a treatment for Parkinson disease. (14747832)
2004
31
C/EBPalpha is a DNA damage-inducible p53-regulated mediator of the G1 checkpoint in keratinocytes. (15572670)
2004
32
Salivary analyses and caries increment over 4 years: an approach by cluster analysis. (15338312)
2004
33
X-ray absorption spectroscopy of the copper chaperone HAH1 reveals a linear two-coordinate Cu(I) center capable of adduct formation with exogenous thiols and phosphines. (12686548)
2003
34
Allele frequencies of +874T--&gt;A single nucleotide polymorphism at the first intron of interferon-gamma gene in a group of Italian centenarians. (11772518)
2002
35
Elucidation of the binding regions of PAI-1 neutralizing antibodies using chimeric variants of human and rat PAI-1. (11372681)
2001
36
Choroidal retinoic acid synthesis: a possible mediator between refractive error and compensatory eye growth. (10866000)
2000
37
Expression of BDNF and TrkB mRNAs in the crista neurosensory epithelium and vestibular ganglia following ototoxic damage. (10536212)
1999
38
Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview. (7668352)
1995
39
Diagnosis and treatment of chronic lead poisoning in CAPD patients. (8105909)
1993
40
Vitamin D and prostate cancer: 1,25 dihydroxyvitamin D3 receptors and actions in human prostate cancer cell lines. (7682937)
1993
41
Synaptophysin: a sensitive and specific marker for ganglion cells in central nervous system neoplasms. (2107138)
1990
42
Arthroscopic surgery for synovial chondromatosis of the hip. (2925734)
1989
43
Incorporation of radiophosphate in the inorganic and organic acid-soluble phosphate fractions of the rat sciatic nerve during Wallerian degeneration. I. After nerve section (neurotmesis). (4457152)
1974
44
Cardiac syncope due to glossopharyngeal neuralgia. Treatment with a transvenous pacemaker. (5119230)
1971
45
The fine structure of the renal glomerulus in acute anuria. (6050374)
1967

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
1TRPV3NM_145068.3(TRPV3): c.2017C> T (p.Leu673Phe)single nucleotide variantPathogenicrs786205868GRCh37Chr 17, 3421938: 3421938
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

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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