OLMS1
MCID: OLM003
MIFTS: 32

Olmsted Syndrome 1 (OLMS1)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Olmsted Syndrome 1

MalaCards integrated aliases for Olmsted Syndrome 1:

Name: Olmsted Syndrome 1 57
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 1; Ppkm1 57
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 1 57
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 73
Olmsted Syndrome 73
Olms1 57
Ppkm1 57
Olms 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
hand and foot lesions can severely limit dexterity (due to flexion contractures) and mobility (due to painful fissures)


HPO:

31
olmsted syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Olmsted Syndrome 1

OMIM® : 57 Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927). (614594) (Updated 05-Mar-2021)

MalaCards based summary : Olmsted Syndrome 1, also known as palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 1; ppkm1, is related to mutilating palmoplantar keratoderma with periorificial keratotic plaques and autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques. An important gene associated with Olmsted Syndrome 1 is TRPV3 (Transient Receptor Potential Cation Channel Subfamily V Member 3). Affiliated tissues include tongue and skin, and related phenotypes are hyperhidrosis and opacification of the corneal stroma

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Olmsted Syndrome 1

Diseases in the Olmsted Syndrome 1 family:

Olmsted Syndrome 2

Diseases related to Olmsted Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 mutilating palmoplantar keratoderma with periorificial keratotic plaques 12.0
2 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques 11.9
3 olmsted syndrome, x-linked 10.9
4 olmsted syndrome 2 10.9
5 palmoplantar keratosis 10.6
6 hereditary palmoplantar keratoderma 10.5
7 keratosis 10.4
8 alopecia 10.3
9 erythrokeratoderma ''en cocardes'' 10.2
10 pachyonychia congenita 1 10.1
11 pseudoainhum 10.1
12 vohwinkel syndrome 10.0
13 diffuse alopecia areata 10.0
14 ectodermal dysplasia 10.0
15 hypotrichosis 10.0
16 erythromelalgia 10.0
17 rare genetic skin disease 10.0
18 acrodermatitis enteropathica, zinc-deficiency type 9.9
19 mal de meleda 9.9
20 keratosis follicularis spinulosa decalvans, autosomal dominant 9.9
21 keratosis follicularis spinulosa decalvans 9.9
22 ichthyosis 9.9
23 acrodermatitis 9.9
24 enteropathica 9.9
25 ainhum 9.8
26 cleft palate, isolated 9.8
27 darier-white disease 9.8
28 hirschsprung disease 1 9.8
29 huriez syndrome 9.8
30 alopecia universalis congenita 9.8
31 cryptorchidism, unilateral or bilateral 9.8
32 tyrosinemia, type ii 9.8
33 ifap syndrome 1, with or without bresheck syndrome 9.8
34 branchiootic syndrome 1 9.8
35 familial woolly hair syndrome 9.8
36 ehlers-danlos syndrome 9.8
37 cheilitis 9.8
38 melanoma 9.8
39 papilloma 9.8
40 skin carcinoma 9.8
41 mutism 9.8
42 tyrosinemia 9.8
43 hypereosinophilic syndrome 9.8
44 hidrotic ectodermal dysplasia 2 9.8
45 ichthyosis follicularis atrichia photophobia syndrome 9.8

Graphical network of the top 20 diseases related to Olmsted Syndrome 1:



Diseases related to Olmsted Syndrome 1

Symptoms & Phenotypes for Olmsted Syndrome 1

Human phenotypes related to Olmsted Syndrome 1:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 occasional (7.5%) HP:0000975
2 opacification of the corneal stroma 31 occasional (7.5%) HP:0007759
3 sparse hair 31 occasional (7.5%) HP:0008070
4 alopecia universalis 31 occasional (7.5%) HP:0002289
5 flexion contracture 31 HP:0001371
6 palmoplantar keratoderma 31 HP:0000982
7 nail dysplasia 31 HP:0002164
8 pruritus 31 HP:0000989
9 nail dystrophy 31 HP:0008404
10 subungual hyperkeratosis 31 HP:0008392
11 parakeratosis 31 HP:0001036

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Nails:
subungual hyperkeratosis
dystrophic nails
transverse ridging

Skeletal Hands:
flexion contractures of fingers
constricting digital bands
autoamputation of fingers (in some patients)

Skin Nails Hair Skin:
hyperhidrosis (in some patients)
keratoderma, mutilating, of palms and soles
keratotic plaque, periorificial
pruritus of skin lesions, severe
anhidrosis over skin lesions (rare)
more
Head And Neck Ears:
keratotic plaque around ear meatus

Head And Neck Nose:
keratotic plaque around nostrils

Abdomen Gastrointestinal:
perianal keratotic plaque

Skeletal Feet:
constricting digital bands
autoamputation of toes (in some patients)

Skin Nails Hair Skin Histology:
parakeratosis
orthohyperkeratosis
marked hyperkeratosis
psoriasiform hyperplasia
hypogranulosis

Skin Nails Hair Hair:
sparse hair (in some patients)
alopecia universalis (in some patients)
pili torti defects (in some patients)
trichorrhexis nodosa-type defects (in some patients)

Head And Neck Mouth:
perioral keratotic plaque
leukokeratosis of tongue and/or buccal mucosa (in some patients)

Head And Neck Eyes:
corneal opacity (rare)

Head And Neck Neck:
keratotic plaque (in some patients)

Genitourinary:
keratotic plaque in perigenital region

Neoplasia:
squamous cell carcinoma in area of palmoplantar keratoderma (rare)

Clinical features from OMIM®:

614594 (Updated 05-Mar-2021)

Drugs & Therapeutics for Olmsted Syndrome 1

Search Clinical Trials , NIH Clinical Center for Olmsted Syndrome 1

Genetic Tests for Olmsted Syndrome 1

Anatomical Context for Olmsted Syndrome 1

MalaCards organs/tissues related to Olmsted Syndrome 1:

40
Tongue, Skin

Publications for Olmsted Syndrome 1

Articles related to Olmsted Syndrome 1:

(show top 50) (show all 87)
# Title Authors PMID Year
1
A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. 6 57 61
24452206 2014
2
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. 61 6 57
22405088 2012
3
Olmsted syndrome: mutilating palmoplantar keratoderma with periorificial keratotic plaques. 57 61
16227106 2005
4
Olmsted syndrome: report of two new cases and literature review. 57 61
11052230 2000
5
Olmsted syndrome--congenital palmoplantar and periorificial keratoderma. 61 57
6232300 1984
6
Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted's syndrome). 57
2138494 1990
7
Etretinate: management of keratoma hereditaria mutilans in four family members. 57
3161912 1985
8
Acrodermatitis enteropathica. Report of 6 cases. 57
13784244 1961
9
A whole-genome sequencing-based novel preimplantation genetic testing method for de novo mutations combined with chromosomal balanced translocations. 61
32783137 2020
10
PAR2 Mediates Itch via TRPV3 Signaling in Keratinocytes. 61
32004565 2020
11
Genotype‒Phenotype Correlation of TRPV3-Related Olmsted Syndrome. 61
32795529 2020
12
Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome. 61
32410213 2020
13
Gating of human TRPV3 in a lipid bilayer. 61
32572252 2020
14
Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted Syndrome. 61
31895414 2020
15
Use of Epidermal Growth Factor Receptor Inhibitor Erlotinib to Treat Palmoplantar Keratoderma in Patients With Olmsted Syndrome Caused by TRPV3 Mutations. 61
31895432 2020
16
Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP. 61
31361044 2020
17
Comment on "Olmsted Syndrome". 61
32566327 2020
18
Pharmacological Activation of Thermo-Transient Receptor Potential Vanilloid 3 Channels Inhibits Hair Growth by Inducing Cell Death of Hair Follicle Outer Root Sheath. 61
31152005 2019
19
Mutations in PERP Cause Dominant and Recessive Keratoderma. 61
30321533 2019
20
Pharmacological Inhibition of the Temperature-Sensitive and Ca2+-Permeable Transient Receptor Potential Vanilloid TRPV3 Channel by Natural Forsythoside B Attenuates Pruritus and Cytotoxicity of Keratinocytes. 61
30377214 2019
21
Conformational ensemble of the human TRPV3 ion channel. 61
30429472 2018
22
Structure and gating mechanism of the transient receptor potential channel TRPV3. 61
30127359 2018
23
Olmsted syndrome in three sisters in a family. 61
28799532 2018
24
Olmsted Syndrome with Lateral Supraciliary Madarosis and Clubbing: A Rare Case Report. 61
29644198 2018
25
Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene. 61
29436206 2018
26
Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes. 61
28964718 2018
27
Hypotrichosis in a Child with Olmsted Syndrome. 61
29441307 2018
28
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. 61
29204395 2017
29
Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3. 61
28717930 2017
30
A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation. 61
28587736 2017
31
The Ca2+-Permeable Cation Transient Receptor Potential TRPV3 Channel: An Emerging Pivotal Target for Itch and Skin Diseases. 61
28377424 2017
32
Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3. 61
28391651 2017
33
TRPV3 mutants causing Olmsted Syndrome induce impaired cell adhesion and nonfunctional lysosomes. 61
27754757 2017
34
Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats. 61
28024685 2017
35
Nagashima-type palmoplantar keratosis in a Chinese Han population. 61
27666198 2016
36
Olmsted Syndrome in a Family. 61
28442872 2016
37
Semidominant Inheritance in Olmsted Syndrome. 61
27189830 2016
38
Two familial cases of Olmsted-like syndrome with a G573V mutation of the TRPV3 gene. 61
27273692 2016
39
Olmsted Syndrome: Rare Occurrence in Four Siblings. 61
27293270 2016
40
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome. 61
26902751 2016
41
Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3. 61
25989441 2016
42
Expanding the Phenotypic Spectrum of Olmsted Syndrome. 61
26067147 2015
43
Olmsted syndrome with oral involvement, including premature teeth loss. 61
24474548 2015
44
Olmsted syndrome: clinical, molecular and therapeutic aspects. 61
25886873 2015
45
Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations. 61
24606194 2014
46
Discovery in genetic skin disease: the impact of high throughput genetic technologies. 61
25093584 2014
47
Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3. 61
24758389 2014
48
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3. 61
24463422 2014
49
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. 61
24313295 2014
50
TRPV3: time to decipher a poorly understood family member! 61
23836684 2014

Variations for Olmsted Syndrome 1

ClinVar genetic disease variations for Olmsted Syndrome 1:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRPV3 NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) SNV Pathogenic 30636 rs199473704 17:3427518-3427518 17:3524224-3524224
2 TRPV3 NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys) SNV Pathogenic 30637 rs199473704 17:3427518-3427518 17:3524224-3524224
3 TRPV3 NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly) SNV Pathogenic 30638 rs199473705 17:3421881-3421881 17:3518587-3518587
4 TRPV3 NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) SNV Pathogenic 192256 rs786205868 17:3421938-3421938 17:3518644-3518644
5 TRPV3 NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val) SNV Pathogenic 803297 rs1057517884 17:3427532-3427532 17:3524238-3524238
6 SPATA22 NM_145068.4(TRPV3):c.*1591_*1592insC Insertion Uncertain significance 322714 rs112072753 17:3415619-3415620 17:3512325-3512326
7 SPATA22 NM_145068.4(TRPV3):c.*1940T>G SNV Uncertain significance 322708 rs886052845 17:3415271-3415271 17:3511977-3511977
8 SPATA22 NM_145068.4(TRPV3):c.*85A>G SNV Uncertain significance 322742 rs886052853 17:3417126-3417126 17:3513832-3513832
9 SPATA22 NM_145068.4(TRPV3):c.*631A>G SNV Uncertain significance 322736 rs886052851 17:3416580-3416580 17:3513286-3513286
10 SPATA22 NM_145068.4(TRPV3):c.*1110_*1111TG[1] Microsatellite Uncertain significance 322725 rs886052849 17:3416098-3416099 17:3512804-3512805
11 SPATA22 NM_145068.4(TRPV3):c.*752dup Duplication Uncertain significance 322734 rs886052850 17:3416458-3416459 17:3513164-3513165
12 SPATA22 NM_145068.4(TRPV3):c.*92A>C SNV Uncertain significance 322740 rs886052852 17:3417119-3417119 17:3513825-3513825
13 TRPV3 NM_145068.4(TRPV3):c.615C>T (p.Asn205=) SNV Uncertain significance 322786 rs372599650 17:3445844-3445844 17:3542550-3542550
14 SPATA22 NM_145068.4(TRPV3):c.*1590del Deletion Uncertain significance 322717 rs869218825 17:3415621-3415621 17:3512327-3512327
15 TRPV3 NM_145068.4(TRPV3):c.501G>A (p.Thr167=) SNV Uncertain significance 322789 rs780723914 17:3445958-3445958 17:3542664-3542664
16 TRPV3 NM_145068.4(TRPV3):c.*32C>T SNV Uncertain significance 322749 rs368105861 17:3417179-3417179 17:3513885-3513885
17 SPATA22 NM_145068.4(TRPV3):c.*3302_*3303TG[5] Microsatellite Uncertain significance 322673 rs886052836 17:3413901-3413902 17:3510607-3510608
18 TRPV3 NM_145068.4(TRPV3):c.881C>A (p.Ser294Ter) SNV Uncertain significance 225504 rs1085307103 17:3436135-3436135 17:3532841-3532841
19 TRPV3 NM_145068.4(TRPV3):c.*56dup Duplication Likely benign 322748 rs559927242 17:3417154-3417155 17:3513860-3513861
20 SPATA22 NM_145068.4(TRPV3):c.*1621del Deletion Likely benign 322713 rs200084165 17:3415590-3415590 17:3512296-3512296
21 TRPV3 NM_145068.4(TRPV3):c.*25dup Duplication Likely benign 322750 rs575765196 17:3417185-3417186 17:3513891-3513892
22 SPATA22 NM_145068.4(TRPV3):c.*64_*65TG[1] Microsatellite Benign 322745 rs10573788 17:3417144-3417145 17:3513850-3513851
23 SPATA22 NM_145068.4(TRPV3):c.*1591del Deletion Benign 322715 rs57868197 17:3415620-3415620 17:3512326-3512326

UniProtKB/Swiss-Prot genetic disease variations for Olmsted Syndrome 1:

73
# 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

Expression for Olmsted Syndrome 1

Search GEO for disease gene expression data for Olmsted Syndrome 1.

Pathways for Olmsted Syndrome 1

GO Terms for Olmsted Syndrome 1

Sources for Olmsted Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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