MCID: SKN024
MIFTS: 23

Skin Fragility-Woolly Hair Syndrome

Categories: Genetic diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Skin Fragility-Woolly Hair Syndrome

MalaCards integrated aliases for Skin Fragility-Woolly Hair Syndrome:

Name: Skin Fragility-Woolly Hair Syndrome 57 75 37 13 73
Sfwhs 57 75
Skin Fragility-Woolly Hair-Palmoplantar Hyperkeratosis Syndrome 59
Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
skin fragility-woolly hair syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607655
Orphanet 59 ORPHA293165
ICD10 via Orphanet 34 Q82.8
MedGen 42 C1843292
KEGG 37 H00893
UMLS 73 C1843292

Summaries for Skin Fragility-Woolly Hair Syndrome

UniProtKB/Swiss-Prot : 75 Skin fragility-woolly hair syndrome: An autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, hyperkeratotic plaques on the trunk and limbs, and woolly hair with varying degrees of alopecia.

MalaCards based summary : Skin Fragility-Woolly Hair Syndrome, also known as sfwhs, is related to woolly hair syndrome and skin fragility-woolly hair-palmoplantar keratoderma syndrome. An important gene associated with Skin Fragility-Woolly Hair Syndrome is DSP (Desmoplakin). Affiliated tissues include skin, and related phenotypes are failure to thrive and abnormality of the cardiovascular system

Description from OMIM: 607655

Related Diseases for Skin Fragility-Woolly Hair Syndrome

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

# Related Disease Score Top Affiliating Genes
1 woolly hair syndrome 29.4 DSP LOC101928076
2 skin fragility-woolly hair-palmoplantar keratoderma syndrome 12.0
3 epidermolysis bullosa, lethal acantholytic 9.4 DSP LOC101928076
4 cardiomyopathy, dilated, with woolly hair and keratoderma 9.2 DSP LOC101928076
5 ectodermal dysplasia/skin fragility syndrome 9.0 DSP LOC101928076

Graphical network of the top 20 diseases related to Skin Fragility-Woolly Hair Syndrome:



Diseases related to Skin Fragility-Woolly Hair Syndrome

Symptoms & Phenotypes for Skin Fragility-Woolly Hair Syndrome

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Skin Nails Hair Hair:
alopecia
woolly hair
sparse eyelashes
sparse eyebrows

Cardiovascular Heart:
normal

Skin Nails Hair Skin Electron Microscopy:
acantholysis throughout all layers of the skin
focal detachment of desmosomes into the intercellular spaces
perinuclear condensation of the suprabasal keratin intermediate filament network

Skin Nails Hair Nails:
nail dystrophy

Skin Nails Hair Skin:
palmoplantar keratosis with erythema and scale
fragility with blistering (neonatal onset)
hyperkeratotic plaques on trunk and limbs

Skin Nails Hair Skin Histology:
peripheral and cytoplasmic desmoplakin staining (immunohistochemistry)


Clinical features from OMIM:

607655

Human phenotypes related to Skin Fragility-Woolly Hair Syndrome:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 abnormality of the cardiovascular system 32 HP:0001626
3 nail dystrophy 32 HP:0008404
4 alopecia 32 HP:0001596
5 nail dysplasia 32 HP:0002164
6 woolly hair 32 HP:0002224
7 sparse eyelashes 32 HP:0000653
8 palmoplantar keratosis with erythema and scale 32 HP:0007548
9 fragile skin 32 HP:0001030
10 sparse and thin eyebrow 32 HP:0000535

Drugs & Therapeutics for Skin Fragility-Woolly Hair Syndrome

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

Genetic Tests for Skin Fragility-Woolly Hair Syndrome

Anatomical Context for Skin Fragility-Woolly Hair Syndrome

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

41
Skin

Publications for Skin Fragility-Woolly Hair Syndrome

Articles related to Skin Fragility-Woolly Hair 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 Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Skin Fragility-Woolly Hair Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 DSP p.Asn287Lys VAR_015569 rs121912993
2 DSP p.Arg2366Cys VAR_015570 rs28931610

ClinVar genetic disease variations for Skin Fragility-Woolly Hair 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 Syndrome

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

Pathways for Skin Fragility-Woolly Hair Syndrome

GO Terms for Skin Fragility-Woolly Hair Syndrome

Sources for Skin Fragility-Woolly Hair Syndrome

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