MCID: SKN061
MIFTS: 11

Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

MalaCards integrated aliases for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome:

Name: Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 49
Skin Fragility Woolly Hair Syndrome 49 28
Skin Fragility-Woolly Hair Syndrome 69

Classifications:



External Ids:

UMLS 69 C1843292

Summaries for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Palmoplantar keratoderma.

MalaCards based summary : Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome, also known as skin fragility woolly hair syndrome, is related to skin fragility-woolly hair syndrome. An important gene associated with Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome is DSP (Desmoplakin). Affiliated tissues include skin.

Related Diseases for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

Diseases related to Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 skin fragility-woolly hair syndrome 11.6

Symptoms & Phenotypes for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

Drugs & Therapeutics for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

Search Clinical Trials , NIH Clinical Center for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

Genetic Tests for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

Genetic tests related to Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome:

# Genetic test Affiliating Genes
1 Skin Fragility Woolly Hair Syndrome 28 DSP

Anatomical Context for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

MalaCards organs/tissues related to Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome:

38
Skin

Publications for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

Articles related to Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome:

# Title Authors Year
1
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. ( 20738328 )
2011
2
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. ( 11841538 )
2002

Variations for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

ClinVar genetic disease variations for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DSP NM_004415.3(DSP): c.861T> G (p.Asn287Lys) single nucleotide variant Pathogenic rs121912993 GRCh37 Chromosome 6, 7565675: 7565675
2 DSP NM_004415.3(DSP): c.2427T> A (p.Cys809Ter) single nucleotide variant Pathogenic rs121912994 GRCh37 Chromosome 6, 7575019: 7575019
3 DSP NM_004415.3(DSP): c.7096C> T (p.Arg2366Cys) single nucleotide variant Pathogenic rs28931610 GRCh37 Chromosome 6, 7584591: 7584591
4 DSP NM_004415.3(DSP): c.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs121912995 GRCh37 Chromosome 6, 7572161: 7572161
5 DSP NM_004415.3(DSP): c.7097G> A (p.Arg2366His) single nucleotide variant Pathogenic rs387906618 GRCh37 Chromosome 6, 7584592: 7584592
6 DSP NM_004415.3(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic/Likely pathogenic rs794728137 GRCh37 Chromosome 6, 7565742: 7565742

Expression for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

Search GEO for disease gene expression data for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome.

Pathways for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

GO Terms for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

Sources for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
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32 ICD10
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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