SFWHS
MCID: SKN024
MIFTS: 24

Skin Fragility-Woolly Hair Syndrome (SFWHS)

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

Aliases & Classifications for Skin Fragility-Woolly Hair Syndrome

MalaCards integrated aliases for Skin Fragility-Woolly Hair Syndrome:

Name: Skin Fragility-Woolly Hair Syndrome 58 76 38 13 74
Sfwhs 58 76
Skin Fragility-Woolly Hair-Palmoplantar Hyperkeratosis Syndrome 60
Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
skin fragility-woolly hair syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 607655
KEGG 38 H00893
ICD10 via Orphanet 35 Q82.8
Orphanet 60 ORPHA293165
MedGen 43 C1843292
UMLS 74 C1843292

Summaries for Skin Fragility-Woolly Hair Syndrome

UniProtKB/Swiss-Prot : 76 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 30.2 DSP LOC101928076
2 skin fragility-woolly hair-palmoplantar keratoderma syndrome 12.2
3 epidermolysis bullosa, lethal acantholytic 9.6 DSP LOC101928076
4 ectodermal dysplasia/skin fragility syndrome 9.5 DSP LOC101928076

Symptoms & Phenotypes for Skin Fragility-Woolly Hair Syndrome

Human phenotypes related to Skin Fragility-Woolly Hair Syndrome:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 abnormality of the cardiovascular system 33 HP:0001626
3 nail dystrophy 33 HP:0008404
4 alopecia 33 HP:0001596
5 nail dysplasia 33 HP:0002164
6 woolly hair 33 HP:0002224
7 sparse eyelashes 33 HP:0000653
8 acantholysis 33 HP:0100792
9 palmoplantar keratosis with erythema and scale 33 HP:0007548
10 fragile skin 33 HP:0001030
11 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Skin

Publications for Skin Fragility-Woolly Hair Syndrome

Articles related to Skin Fragility-Woolly Hair 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 Syndrome

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

76
# 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 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 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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