OLMSX
MCID: OLM002
MIFTS: 25

Olmsted Syndrome, X-Linked (OLMSX)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Olmsted Syndrome, X-Linked

MalaCards integrated aliases for Olmsted Syndrome, X-Linked:

Name: Olmsted Syndrome, X-Linked 57 72
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 57 29 6 70
Olmsx 57 12 72
X-Linked Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques 12 15
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked; Ppkmx 57
Keratoderma, Palmoplantar, Mutilating, with Periorificial Keratotic Plaques, X-Linked 39
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques, X-Linked 72
X-Linked Olmsted Syndrome 12
Ppkmx 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive


HPO:

31
olmsted syndrome, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112012
OMIM® 57 300918
OMIM Phenotypic Series 57 PS614594
MeSH 44 D007645
UMLS 70 C3806745

Summaries for Olmsted Syndrome, X-Linked

OMIM® : 57 X-linked Olmsted syndrome (OLMSX) is a rare keratinization disorder characterized by the combination of periorificial keratotic plaques and bilateral palmoplantar transgredient keratoderma. Other clinical manifestations include diffuse alopecia, leukokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular keratosis, and constriction of the digits (summary by Yaghoobi et al., 2007). For a general phenotypic description and discussion of genetic heterogeneity of Olmsted disease, see OLMS1 (614594). (300918) (Updated 05-Apr-2021)

MalaCards based summary : Olmsted Syndrome, X-Linked, also known as palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked, is related to mutilating palmoplantar keratoderma with periorificial keratotic plaques and alopecia. An important gene associated with Olmsted Syndrome, X-Linked is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2). Related phenotypes are palmoplantar keratoderma and subungual hyperkeratosis

Disease Ontology : 12 A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has material basis in hemizygous mutation in MBTPS2 on chromosome Xp22.12.

UniProtKB/Swiss-Prot : 72 Olmsted syndrome, X-linked: 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, X-Linked

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

# Related Disease Score Top Affiliating Genes
1 mutilating palmoplantar keratoderma with periorificial keratotic plaques 29.4 TRPV3 MBTPS2
2 alopecia 29.2 TRPV3 MBTPS2
3 vohwinkel syndrome 10.0
4 keratosis follicularis spinulosa decalvans, autosomal dominant 10.0
5 olmsted syndrome 1 10.0
6 keratosis follicularis spinulosa decalvans 10.0
7 ectodermal dysplasia 10.0
8 palmoplantar keratosis 10.0
9 ifap syndrome 1, with or without bresheck syndrome 9.6 TRPV3 MBTPS2

Graphical network of the top 20 diseases related to Olmsted Syndrome, X-Linked:



Diseases related to Olmsted Syndrome, X-Linked

Symptoms & Phenotypes for Olmsted Syndrome, X-Linked

Human phenotypes related to Olmsted Syndrome, X-Linked:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 31 HP:0000982
2 subungual hyperkeratosis 31 HP:0008392
3 alopecia totalis 31 HP:0007418
4 palmoplantar hyperkeratosis 31 HP:0000972
5 epidermal acanthosis 31 HP:0025092
6 parakeratosis 31 HP:0001036
7 posterior blepharitis 31 HP:0025610

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin Histology:
hyperkeratosis
parakeratosis
papillomatosis
acanthosis, mild
acute and chronic dermal inflammation

Head And Neck Head:
absent scalp hair

Head And Neck Nose:
hyperkeratotic plaque around nostrils

Head And Neck Teeth:
absence of premolar teeth (in some patients)

Skin Nails Hair Skin:
palmoplantar hyperkeratosis, severe
periorificial hyperkeratotic lesions
hyperkeratotic lesions of neck, elbows, knees, groin, genitalia, and buttocks
flexion contractures of hands due to severe hyperkeratosis

Skin Nails Hair Nails:
subungual hyperkeratosis
hyperkeratotic nails
severely dystrophic nails

Head And Neck Eyes:
absent eyebrows and eyelashes
chronic blepharitis
meibomian gland dysfunction
subepithelial and anterior stromal opacities on slit-lamp examination
corneal vascularization extending to central cornea

Head And Neck Mouth:
perioral keratotic plaque

Head And Neck Neck:
hyperkeratotic lesions of posterior neck

Skin Nails Hair Hair:
total alopecia

Clinical features from OMIM®:

300918 (Updated 05-Apr-2021)

Drugs & Therapeutics for Olmsted Syndrome, X-Linked

Search Clinical Trials , NIH Clinical Center for Olmsted Syndrome, X-Linked

Genetic Tests for Olmsted Syndrome, X-Linked

Genetic tests related to Olmsted Syndrome, X-Linked:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 29 MBTPS2

Anatomical Context for Olmsted Syndrome, X-Linked

Publications for Olmsted Syndrome, X-Linked

Articles related to Olmsted Syndrome, X-Linked:

# Title Authors PMID Year
1
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. 57 6
22931912 2013
2
Olmsted syndrome in an Iranian family: report of two new cases. 57 6
17367233 2007
3
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. 57
24313295 2014
4
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. 57
21426410 2011
5
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. 61
29204395 2017
6
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. 61
23316014 2013

Variations for Olmsted Syndrome, X-Linked

ClinVar genetic disease variations for Olmsted Syndrome, X-Linked:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MBTPS2 NM_015884.4(MBTPS2):c.1391T>C (p.Phe464Ser) SNV Pathogenic 126905 rs587777306 GRCh37: X:21900604-21900604
GRCh38: X:21882486-21882486
2 MBTPS2 NM_015884.4(MBTPS2):c.124G>A (p.Gly42Arg) SNV Uncertain significance 1029415 GRCh37: X:21861336-21861336
GRCh38: X:21843218-21843218

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

72
# Symbol AA change Variation ID SNP ID
1 MBTPS2 p.Phe464Ser VAR_071323 rs587777306

Expression for Olmsted Syndrome, X-Linked

Search GEO for disease gene expression data for Olmsted Syndrome, X-Linked.

Pathways for Olmsted Syndrome, X-Linked

GO Terms for Olmsted Syndrome, X-Linked

Sources for Olmsted Syndrome, X-Linked

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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