MCID: PLM172
MIFTS: 18

Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Mutilating, with Periorificial...

MalaCards integrated aliases for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked:

Name: Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked 57 29 6 73
Olmsted Syndrome, X-Linked 57 75
Olmsx 57 75
Keratoderma, Palmoplantar, Mutilating, with Periorificial Keratotic Plaques, X-Linked ) 40
Mutilating Palmoplantar Keratoderma with Periorificial Keratotic Plaques, X-Linked 75
Olmsted Syndrome, X-Linked; Olmsx 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300918
MeSH 44 D007645
UMLS 73 C3806745

Summaries for Palmoplantar Keratoderma, Mutilating, with Periorificial...

OMIM : 57 Olmsted syndrome 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). An autosomal dominant form of Olmsted syndrome (614594) is caused by mutation in the TRPV3 gene (607066) on chromosome 17p13. (300918)

MalaCards based summary : Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked, is also known as olmsted syndrome, x-linked. An important gene associated with Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked is MBTPS2 (Membrane Bound Transcription Factor Peptidase, Site 2). Related phenotypes are palmoplantar keratoderma and parakeratosis

UniProtKB/Swiss-Prot : 75 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 Palmoplantar Keratoderma, Mutilating, with Periorificial...

Symptoms & Phenotypes for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 palmoplantar keratoderma 32 HP:0000982
2 parakeratosis 32 HP:0001036
3 subungual hyperkeratosis 32 HP:0008392
4 palmoplantar hyperkeratosis 32 HP:0000972
5 alopecia totalis 32 HP:0007418
6 epidermal acanthosis 32 HP:0025092

Drugs & Therapeutics for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked

Genetic Tests for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Genetic tests related to Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked:

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

Anatomical Context for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Publications for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Variations for Palmoplantar Keratoderma, Mutilating, with Periorificial...

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked:

75
# Symbol AA change Variation ID SNP ID
1 MBTPS2 p.Phe464Ser VAR_071323 rs587777306

ClinVar genetic disease variations for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MBTPS2 NM_015884.3(MBTPS2): c.1391T> C (p.Phe464Ser) single nucleotide variant Pathogenic rs587777306 GRCh37 Chromosome X, 21900604: 21900604
2 MBTPS2 NM_015884.3(MBTPS2): c.1391T> C (p.Phe464Ser) single nucleotide variant Pathogenic rs587777306 GRCh38 Chromosome X, 21882486: 21882486

Expression for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked.

Pathways for Palmoplantar Keratoderma, Mutilating, with Periorificial...

GO Terms for Palmoplantar Keratoderma, Mutilating, with Periorificial...

Sources for Palmoplantar Keratoderma, Mutilating, with Periorificial...

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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