MCID: SKN061
MIFTS: 10

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. 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 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
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
(show top 50) (show all 184)
# 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.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs121912995 GRCh37 Chromosome 6, 7572161: 7572161
6 DSP NM_004415.3(DSP): c.1990C> T (p.Gln664Ter) single nucleotide variant Pathogenic rs121912995 GRCh38 Chromosome 6, 7571928: 7571928
7 DSP NM_004415.3(DSP): c.7097G> A (p.Arg2366His) single nucleotide variant Pathogenic rs387906618 GRCh37 Chromosome 6, 7584592: 7584592
8 DSP NM_004415.3(DSP): c.7097G> A (p.Arg2366His) single nucleotide variant Pathogenic rs387906618 GRCh38 Chromosome 6, 7584359: 7584359
9 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh37 Chromosome 6, 7570791: 7570791
10 DSP NM_004415.3(DSP): c.1696G> A (p.Ala566Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs148147581 GRCh38 Chromosome 6, 7570558: 7570558
11 DSP NM_004415.3(DSP): c.5513G> A (p.Arg1838His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh37 Chromosome 6, 7583008: 7583008
12 DSP NM_004415.3(DSP): c.5513G> A (p.Arg1838His) single nucleotide variant Conflicting interpretations of pathogenicity rs377715841 GRCh38 Chromosome 6, 7582775: 7582775
13 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh37 Chromosome 6, 7576619: 7576619
14 DSP NM_004415.3(DSP): c.2723G> A (p.Arg908His) single nucleotide variant Conflicting interpretations of pathogenicity rs142494121 GRCh38 Chromosome 6, 7576386: 7576386
15 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh37 Chromosome 6, 7579930: 7579930
16 DSP NM_004415.3(DSP): c.3507C> T (p.Tyr1169=) single nucleotide variant Likely benign rs148894066 GRCh38 Chromosome 6, 7579697: 7579697
17 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh37 Chromosome 6, 7580285: 7580285
18 DSP NM_004415.3(DSP): c.3862A> C (p.Lys1288Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138907450 GRCh38 Chromosome 6, 7580052: 7580052
19 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh37 Chromosome 6, 7571657: 7571657
20 DSP NM_004415.3(DSP): c.1743C> T (p.Ala581=) single nucleotide variant Conflicting interpretations of pathogenicity rs139095230 GRCh38 Chromosome 6, 7571424: 7571424
21 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh37 Chromosome 6, 7580073: 7580073
22 DSP NM_004415.3(DSP): c.3650C> T (p.Thr1217Met) single nucleotide variant Conflicting interpretations of pathogenicity rs535202724 GRCh38 Chromosome 6, 7579840: 7579840
23 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh37 Chromosome 6, 7580346: 7580346
24 DSP NM_004415.3(DSP): c.3923G> A (p.Arg1308Gln) single nucleotide variant Benign/Likely benign rs184154918 GRCh38 Chromosome 6, 7580113: 7580113
25 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh37 Chromosome 6, 7581601: 7581601
26 DSP NM_004415.3(DSP): c.5178C> A (p.Asn1726Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147415451 GRCh38 Chromosome 6, 7581368: 7581368
27 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh37 Chromosome 6, 7583039: 7583039
28 DSP NM_004415.3(DSP): c.5544G> A (p.Arg1848=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503004 GRCh38 Chromosome 6, 7582806: 7582806
29 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh37 Chromosome 6, 7581727: 7581727
30 DSP NM_004415.3(DSP): c.5304G> C (p.Gly1768=) single nucleotide variant Benign/Likely benign rs530612211 GRCh38 Chromosome 6, 7581494: 7581494
31 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh37 Chromosome 6, 7583018: 7583018
32 DSP NM_004415.3(DSP): c.5523A> C (p.Ser1841=) single nucleotide variant Conflicting interpretations of pathogenicity rs730882116 GRCh38 Chromosome 6, 7582785: 7582785
33 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh37 Chromosome 6, 7585411: 7585411
34 DSP NM_004415.3(DSP): c.7916G> A (p.Arg2639Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs116888866 GRCh38 Chromosome 6, 7585178: 7585178
35 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh37 Chromosome 6, 7585686: 7585686
36 DSP NM_004415.3(DSP): c.8191T> C (p.Tyr2731His) single nucleotide variant Conflicting interpretations of pathogenicity rs201397978 GRCh38 Chromosome 6, 7585453: 7585453
37 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh37 Chromosome 6, 7556044: 7556044
38 DSP NM_004415.3(DSP): c.264C> T (p.Ile88=) single nucleotide variant Conflicting interpretations of pathogenicity rs727502997 GRCh38 Chromosome 6, 7555811: 7555811
39 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh37 Chromosome 6, 7556049: 7556049
40 DSP NM_004415.3(DSP): c.269A> G (p.Gln90Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs188516326 GRCh38 Chromosome 6, 7555816: 7555816
41 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh37 Chromosome 6, 7581309: 7581309
42 DSP NM_004415.3(DSP): c.4886G> T (p.Ser1629Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs200243976 GRCh38 Chromosome 6, 7581076: 7581076
43 DSP NM_004415.3(DSP): c.6307A> G (p.Lys2103Glu) single nucleotide variant Uncertain significance rs149513743 GRCh37 Chromosome 6, 7583802: 7583802
44 DSP NM_004415.3(DSP): c.6307A> G (p.Lys2103Glu) single nucleotide variant Uncertain significance rs149513743 GRCh38 Chromosome 6, 7583569: 7583569
45 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh37 Chromosome 6, 7584620: 7584620
46 DSP NM_004415.3(DSP): c.7125G> A (p.Gly2375=) single nucleotide variant Conflicting interpretations of pathogenicity rs141709096 GRCh38 Chromosome 6, 7584387: 7584387
47 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh38 Chromosome 6, 7580931: 7580931
48 DSP NM_004415.3(DSP): c.4741A> G (p.Lys1581Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs186842903 GRCh37 Chromosome 6, 7581164: 7581164
49 DSP NM_004415.3(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh37 Chromosome 6, 7565742: 7565742
50 DSP NM_004415.3(DSP): c.928dup (p.Glu310Glyfs) duplication Pathogenic rs794728137 GRCh38 Chromosome 6, 7565509: 7565509

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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