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 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 30.4 DSP LOC101928076
2 skin fragility-woolly hair-palmoplantar keratoderma syndrome 12.2
3 epidermolysis bullosa, lethal acantholytic 9.8 DSP LOC101928076
4 ectodermal dysplasia/skin fragility syndrome 9.7 DSP LOC101928076

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 11)
# 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 acantholysis 32 HP:0100792
9 palmoplantar keratosis with erythema and scale 32 HP:0007548
10 fragile skin 32 HP:0001030
11 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
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:

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 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 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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