MCID: SKN061
MIFTS: 12

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 54
Skin Fragility Woolly Hair Syndrome 54 30 6
Skin Fragility, Woolly Hair Syndrome 41
Skin Fragility-Woolly Hair Syndrome 74

Classifications:



External Ids:

UMLS 74 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 30 DSP

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

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

42
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.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
2 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
3 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh37 Chromosome 6, 7583008: 7583008
4 DSP NM_001008844.2(DSP): c.3716G> A (p.Arg1239His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh38 Chromosome 6, 7582775: 7582775
5 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh37 Chromosome 6, 7576619: 7576619
6 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh38 Chromosome 6, 7576386: 7576386
7 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh37 Chromosome 6, 7579930: 7579930
8 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh38 Chromosome 6, 7579697: 7579697
9 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh37 Chromosome 6, 7580285: 7580285
10 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh38 Chromosome 6, 7580052: 7580052
11 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh37 Chromosome 6, 7571657: 7571657
12 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh38 Chromosome 6, 7571424: 7571424
13 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh37 Chromosome 6, 7580073: 7580073
14 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh38 Chromosome 6, 7579840: 7579840
15 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh37 Chromosome 6, 7580346: 7580346
16 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh38 Chromosome 6, 7580113: 7580113
17 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh37 Chromosome 6, 7581601: 7581601
18 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh38 Chromosome 6, 7581368: 7581368
19 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh37 Chromosome 6, 7583039: 7583039
20 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh38 Chromosome 6, 7582806: 7582806
21 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh38 Chromosome 6, 7581494: 7581494
22 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh37 Chromosome 6, 7581727: 7581727
23 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh37 Chromosome 6, 7583018: 7583018
24 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh38 Chromosome 6, 7582785: 7582785
25 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh37 Chromosome 6, 7585411: 7585411
26 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh38 Chromosome 6, 7585178: 7585178
27 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh37 Chromosome 6, 7585686: 7585686
28 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh38 Chromosome 6, 7585453: 7585453
29 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh37 Chromosome 6, 7556044: 7556044
30 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh38 Chromosome 6, 7555811: 7555811
31 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh37 Chromosome 6, 7556049: 7556049
32 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh38 Chromosome 6, 7555816: 7555816
33 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh37 Chromosome 6, 7581309: 7581309
34 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh38 Chromosome 6, 7581076: 7581076
35 DSP NM_001008844.2(DSP): c.4510A> G (p.Lys1504Glu) single nucleotide variant Uncertain significance rs149513743 GRCh37 Chromosome 6, 7583802: 7583802
36 DSP NM_001008844.2(DSP): c.4510A> G (p.Lys1504Glu) single nucleotide variant Uncertain significance rs149513743 GRCh38 Chromosome 6, 7583569: 7583569
37 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh37 Chromosome 6, 7584620: 7584620
38 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh38 Chromosome 6, 7584387: 7584387
39 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh38 Chromosome 6, 7580931: 7580931
40 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh37 Chromosome 6, 7581164: 7581164
41 DSP NM_001008844.2(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh37 Chromosome 6, 7565742: 7565742
42 DSP NM_001008844.2(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh38 Chromosome 6, 7565509: 7565509
43 DSP NM_004415.3(DSP): c.2774G> A (p.Arg925Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139799237 GRCh38 Chromosome 6, 7576437: 7576437
44 DSP NM_004415.3(DSP): c.2774G> A (p.Arg925Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139799237 GRCh37 Chromosome 6, 7576670: 7576670
45 DSP NM_004415.3(DSP): c.5827A> G (p.Arg1943Gly) single nucleotide variant Uncertain significance rs140663822 GRCh37 Chromosome 6, 7583322: 7583322
46 DSP NM_004415.3(DSP): c.5827A> G (p.Arg1943Gly) single nucleotide variant Uncertain significance rs140663822 GRCh38 Chromosome 6, 7583089: 7583089
47 DSP NM_004415.3(DSP): c.6479G> A (p.Arg2160Gln) single nucleotide variant Uncertain significance rs146642551 GRCh37 Chromosome 6, 7583974: 7583974
48 DSP NM_004415.3(DSP): c.6479G> A (p.Arg2160Gln) single nucleotide variant Uncertain significance rs146642551 GRCh38 Chromosome 6, 7583741: 7583741
49 DSP NM_004415.3(DSP): c.861T> G (p.Asn287Lys) single nucleotide variant Pathogenic rs121912993 GRCh37 Chromosome 6, 7565675: 7565675
50 DSP NM_004415.3(DSP): c.861T> G (p.Asn287Lys) single nucleotide variant Pathogenic rs121912993 GRCh38 Chromosome 6, 7565442: 7565442

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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