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 53
Skin Fragility Woolly Hair Syndrome 53 29 6 40
Skin Fragility-Woolly Hair Syndrome 73

Classifications:



External Ids:

UMLS 73 C1843292

Summaries for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

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 and 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 11.7
2 woolly hair syndrome 10.4

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 29 DSP

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

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

41
Skin

Publications for Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome

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

# Title Authors Year
1
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. ( 30133754 )
2018
2
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
3
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 (show top 50) (show all 292)
# 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.861T> G (p.Asn287Lys) single nucleotide variant Pathogenic rs121912993 GRCh38 Chromosome 6, 7565442: 7565442
3 DSP NM_004415.3(DSP): c.2427T> A (p.Cys809Ter) single nucleotide variant Pathogenic rs121912994 GRCh37 Chromosome 6, 7575019: 7575019
4 DSP NM_004415.3(DSP): c.2427T> A (p.Cys809Ter) single nucleotide variant Pathogenic rs121912994 GRCh38 Chromosome 6, 7574786: 7574786
5 DSP NM_004415.3(DSP): c.7096C> T (p.Arg2366Cys) single nucleotide variant Uncertain significance rs28931610 GRCh37 Chromosome 6, 7584591: 7584591
6 DSP NM_004415.3(DSP): c.7096C> T (p.Arg2366Cys) single nucleotide variant Uncertain significance rs28931610 GRCh38 Chromosome 6, 7584358: 7584358
7 DSP NM_004415.3(DSP): c.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs121912995 GRCh37 Chromosome 6, 7572161: 7572161
8 DSP NM_004415.3(DSP): c.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs121912995 GRCh38 Chromosome 6, 7571928: 7571928
9 DSP NM_004415.3(DSP): c.7097G> A (p.Arg2366His) single nucleotide variant Pathogenic rs387906618 GRCh37 Chromosome 6, 7584592: 7584592
10 DSP NM_004415.3(DSP): c.7097G> A (p.Arg2366His) single nucleotide variant Pathogenic rs387906618 GRCh38 Chromosome 6, 7584359: 7584359
11 DSP NM_004415.3(DSP): c.1dupA (p.Met1Asnfs) duplication Benign rs17133512 GRCh37 Chromosome 6, 7542149: 7542149
12 DSP NM_004415.3(DSP): c.1dupA (p.Met1Asnfs) duplication Benign rs17133512 GRCh38 Chromosome 6, 7541916: 7541916
13 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh37 Chromosome 6, 7542253: 7542253
14 DSP NM_004415.3(DSP): c.105G> A (p.Gly35=) single nucleotide variant Benign/Likely benign rs77445784 GRCh38 Chromosome 6, 7542020: 7542020
15 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh37 Chromosome 6, 7571824: 7571824
16 DSP NM_004415.3(DSP): c.1903+7T> C single nucleotide variant Benign/Likely benign rs28763962 GRCh38 Chromosome 6, 7571591: 7571591
17 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh37 Chromosome 6, 7577213: 7577213
18 DSP NM_004415.3(DSP): c.2815G> A (p.Gly939Ser) single nucleotide variant Benign/Likely benign rs80325569 GRCh38 Chromosome 6, 7576980: 7576980
19 DSP NM_004415.3(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh37 Chromosome 6, 7581196: 7581196
20 DSP NM_004415.3(DSP): c.4773G> A (p.Arg1591=) single nucleotide variant Benign/Likely benign rs28763968 GRCh38 Chromosome 6, 7580963: 7580963
21 DSP NM_004415.3(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh37 Chromosome 6, 7585796: 7585796
22 DSP NM_004415.3(DSP): c.8301C> G (p.Thr2767=) single nucleotide variant Benign/Likely benign rs145362059 GRCh38 Chromosome 6, 7585563: 7585563
23 DSP NM_004415.3(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh37 Chromosome 6, 7565727: 7565727
24 DSP NM_004415.3(DSP): c.913A> T (p.Ile305Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs17604693 GRCh38 Chromosome 6, 7565494: 7565494
25 DSP NM_004415.3(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh37 Chromosome 6, 7586120: 7586120
26 DSP NM_004415.3(DSP): c.*9T> A single nucleotide variant Benign/Likely benign rs11558732 GRCh38 Chromosome 6, 7585887: 7585887
27 DSP NM_004415.3(DSP): c.126T> C (p.Tyr42=) single nucleotide variant Benign rs36087964 GRCh37 Chromosome 6, 7542274: 7542274
28 DSP NM_004415.3(DSP): c.126T> C (p.Tyr42=) single nucleotide variant Benign rs36087964 GRCh38 Chromosome 6, 7542041: 7542041
29 DSP NM_004415.3(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh37 Chromosome 6, 7542160: 7542160
30 DSP NM_004415.3(DSP): c.12C> G (p.Asn4Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs368802003 GRCh38 Chromosome 6, 7541927: 7541927
31 DSP NM_004415.3(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh37 Chromosome 6, 7569480: 7569480
32 DSP NM_004415.3(DSP): c.1481A> T (p.Tyr494Phe) single nucleotide variant Benign/Likely benign rs28763961 GRCh38 Chromosome 6, 7569247: 7569247
33 DSP NM_004415.3(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh37 Chromosome 6, 7569487: 7569487
34 DSP NM_004415.3(DSP): c.1488G> A (p.Thr496=) single nucleotide variant Benign/Likely benign rs35820473 GRCh38 Chromosome 6, 7569254: 7569254
35 DSP NM_004415.3(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh37 Chromosome 6, 7571692: 7571692
36 DSP NM_004415.3(DSP): c.1778A> G (p.Asn593Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs34239595 GRCh38 Chromosome 6, 7571459: 7571459
37 DSP NM_004415.3(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh37 Chromosome 6, 7574938: 7574938
38 DSP NM_004415.3(DSP): c.2346C> T (p.Asp782=) single nucleotide variant Benign/Likely benign rs139071827 GRCh38 Chromosome 6, 7574705: 7574705
39 DSP NM_004415.3(DSP): c.2596C> T (p.Arg866Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142429411 GRCh37 Chromosome 6, 7575687: 7575687
40 DSP NM_004415.3(DSP): c.2596C> T (p.Arg866Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs142429411 GRCh38 Chromosome 6, 7575454: 7575454
41 DSP NM_004415.3(DSP): c.2631G> A (p.Arg877=) single nucleotide variant Benign rs1016835 GRCh37 Chromosome 6, 7576527: 7576527
42 DSP NM_004415.3(DSP): c.2631G> A (p.Arg877=) single nucleotide variant Benign rs1016835 GRCh38 Chromosome 6, 7576294: 7576294
43 DSP NM_004415.3(DSP): c.2673T> C (p.Tyr891=) single nucleotide variant Benign/Likely benign rs146407262 GRCh37 Chromosome 6, 7576569: 7576569
44 DSP NM_004415.3(DSP): c.2673T> C (p.Tyr891=) single nucleotide variant Benign/Likely benign rs146407262 GRCh38 Chromosome 6, 7576336: 7576336
45 DSP NM_004415.3(DSP): c.273+10C> T single nucleotide variant Benign/Likely benign rs56148603 GRCh37 Chromosome 6, 7556063: 7556063
46 DSP NM_004415.3(DSP): c.273+10C> T single nucleotide variant Benign/Likely benign rs56148603 GRCh38 Chromosome 6, 7555830: 7555830
47 DSP NM_004415.3(DSP): c.2773C> T (p.Arg925Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145933612 GRCh37 Chromosome 6, 7576669: 7576669
48 DSP NM_004415.3(DSP): c.2773C> T (p.Arg925Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs145933612 GRCh38 Chromosome 6, 7576436: 7576436
49 DSP NM_004415.3(DSP): c.2862C> T (p.Cys954=) single nucleotide variant Benign rs2064217 GRCh37 Chromosome 6, 7577260: 7577260
50 DSP NM_004415.3(DSP): c.2862C> T (p.Cys954=) single nucleotide variant Benign rs2064217 GRCh38 Chromosome 6, 7577027: 7577027

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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