SFWHS
MCID: SKN024
MIFTS: 30

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 72 36 13 70
Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 20 58 29 6
Sfwhs 57 72
Skin Fragility-Woolly Hair-Palmoplantar Hyperkeratosis Syndrome 58
Skin Fragility, Woolly Hair Syndrome 39
Skin Fragility Woolly Hair Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
skin fragility-woolly hair syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 607655
KEGG 36 H00893
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA293165
MedGen 41 C1843292
UMLS 70 C1843292

Summaries for Skin Fragility-Woolly Hair Syndrome

KEGG : 36 Skin fragility-woolly hair syndrome is a rare autosomal recessive genodermatosis caused by defective desmoplakin, an important desmosomal plaque protein. Patients with skin fragility-woolly hair syndrome present with symptoms including focal and diffuse palmoplantar keratoderma, woolly hair, varying degrees of alopecia, and dystrophic nails. Unlike other disorders associated with desmoplakin mutation, no cardiac symptoms are reported in this disease.

MalaCards based summary : Skin Fragility-Woolly Hair Syndrome, also known as skin fragility-woolly hair-palmoplantar keratoderma syndrome, is related to familial woolly hair syndrome and palmoplantar keratosis. 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

UniProtKB/Swiss-Prot : 72 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.

More information 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 familial woolly hair syndrome 10.5
2 palmoplantar keratosis 10.4
3 alopecia 10.4
4 autosomal recessive disease 10.2
5 dilated cardiomyopathy 10.2
6 erythrokeratoderma ''en cocardes'' 10.2
7 diffuse palmoplantar keratoderma 10.2
8 striate palmoplantar keratoderma 10.2

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

Human phenotypes related to Skin Fragility-Woolly Hair Syndrome:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 abnormality of the cardiovascular system 31 HP:0001626
3 alopecia 31 HP:0001596
4 nail dysplasia 31 HP:0002164
5 woolly hair 31 HP:0002224
6 nail dystrophy 31 HP:0008404
7 sparse eyelashes 31 HP:0000653
8 acantholysis 31 HP:0100792
9 fragile skin 31 HP:0001030
10 palmoplantar keratosis with erythema and scale 31 HP:0007548
11 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Skin Nails Hair Nails:
nail dystrophy

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 Hair:
alopecia
woolly hair
sparse eyelashes
sparse eyebrows

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 (Updated 05-Apr-2021)

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

Genetic tests related to Skin Fragility-Woolly Hair Syndrome:

# Genetic test Affiliating Genes
1 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 29 DSP

Anatomical Context for Skin Fragility-Woolly Hair Syndrome

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

40
Skin

Publications for Skin Fragility-Woolly Hair Syndrome

Articles related to Skin Fragility-Woolly Hair Syndrome:

# Title Authors PMID Year
1
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. 6 57 61
11841538 2002
2
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. 61 6
20738328 2011
3
Epiplakin, a novel member of the Plakin family originally identified as a 450-kDa human epidermal autoantigen. Structure and tissue localization. 6
11278896 2001
4
The plakin family: versatile organizers of cytoskeletal architecture. 6
9229116 1997
5
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India. 61
30133754 2018
6
Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions. 61
25225338 2014
7
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. 61
16175511 2005

Variations for Skin Fragility-Woolly Hair Syndrome

ClinVar genetic disease variations for Skin Fragility-Woolly Hair Syndrome:

6 (show top 50) (show all 211)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DSP NM_004415.4(DSP):c.861T>G (p.Asn287Lys) SNV Pathogenic 16839 rs121912993 GRCh37: 6:7565675-7565675
GRCh38: 6:7565442-7565442
2 DSP NM_004415.4(DSP):c.2427T>A (p.Cys809Ter) SNV Pathogenic 16840 rs121912994 GRCh37: 6:7575019-7575019
GRCh38: 6:7574786-7574786
3 DSP NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) SNV Pathogenic 16841 rs28931610 GRCh37: 6:7584591-7584591
GRCh38: 6:7584358-7584358
4 DSP NM_004415.4(DSP):c.1990C>T (p.Gln664Ter) SNV Pathogenic 16842 rs121912995 GRCh37: 6:7572161-7572161
GRCh38: 6:7571928-7571928
5 DSP NM_004415.4(DSP):c.7097G>A (p.Arg2366His) SNV Pathogenic 29672 rs387906618 GRCh37: 6:7584592-7584592
GRCh38: 6:7584359-7584359
6 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic 44946 rs397516955 GRCh37: 6:7562986-7562986
GRCh38: 6:7562753-7562753
7 DSP NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) SNV Likely pathogenic 488983 rs1554108431 GRCh37: 6:7581422-7581422
GRCh38: 6:7581189-7581189
8 DSP NM_004415.4(DSP):c.928dup (p.Glu310fs) Duplication Likely pathogenic 199916 rs794728137 GRCh37: 6:7565740-7565741
GRCh38: 6:7565507-7565508
9 DSP NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) SNV Uncertain significance 161227 rs34738426 GRCh37: 6:7581747-7581747
GRCh38: 6:7581514-7581514
10 DSP NM_004415.4(DSP):c.8301C>G (p.Thr2767=) SNV Uncertain significance 36025 rs145362059 GRCh37: 6:7585796-7585796
GRCh38: 6:7585563-7585563
11 DSP NM_004415.4(DSP):c.6678T>A (p.Gly2226=) SNV Uncertain significance 44941 rs149070106 GRCh37: 6:7584173-7584173
GRCh38: 6:7583940-7583940
12 DSP NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) SNV Uncertain significance 357962 rs886061748 GRCh37: 6:7584430-7584430
GRCh38: 6:7584197-7584197
13 DSP NM_004415.4(DSP):c.1206G>A (p.Lys402=) SNV Uncertain significance 137168 rs150422458 GRCh37: 6:7568079-7568079
GRCh38: 6:7567846-7567846
14 DSP NM_004415.4(DSP):c.5316T>C (p.Asp1772=) SNV Uncertain significance 357958 rs376186141 GRCh37: 6:7581739-7581739
GRCh38: 6:7581506-7581506
15 DSP NM_004415.4(DSP):c.2346C>T (p.Asp782=) SNV Uncertain significance 44873 rs139071827 GRCh37: 6:7574938-7574938
GRCh38: 6:7574705-7574705
16 DSP NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) SNV Uncertain significance 44874 rs150339369 GRCh37: 6:7575014-7575014
GRCh38: 6:7574781-7574781
17 DSP NM_004415.4(DSP):c.273+5G>A SNV Uncertain significance 163237 rs200473206 GRCh37: 6:7556058-7556058
GRCh38: 6:7555825-7555825
18 DSP NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) SNV Uncertain significance 179013 rs148894066 GRCh37: 6:7579930-7579930
GRCh38: 6:7579697-7579697
19 DSP NM_004415.4(DSP):c.264C>T (p.Ile88=) SNV Uncertain significance 163235 rs727502997 GRCh37: 6:7556044-7556044
GRCh38: 6:7555811-7555811
20 DSP NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) SNV Uncertain significance 357952 rs370063434 GRCh37: 6:7580796-7580796
GRCh38: 6:7580563-7580563
21 DSP NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) SNV Uncertain significance 222581 rs144392839 GRCh37: 6:7583112-7583112
GRCh38: 6:7582879-7582879
22 DSP NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) SNV Uncertain significance 357953 rs796530013 GRCh37: 6:7581102-7581102
GRCh38: 6:7580869-7580869
23 DSP NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) SNV Uncertain significance 357947 rs751361395 GRCh37: 6:7579569-7579569
GRCh38: 6:7579336-7579336
24 DSP NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) SNV Uncertain significance 199875 rs139799237 GRCh37: 6:7576670-7576670
GRCh38: 6:7576437-7576437
25 DSP NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) SNV Uncertain significance 161226 rs148147581 GRCh37: 6:7570791-7570791
GRCh38: 6:7570558-7570558
26 DSP NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) SNV Uncertain significance 566122 rs200745877 GRCh37: 6:7580540-7580540
GRCh38: 6:7580307-7580307
27 DSP NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) SNV Uncertain significance 629352 rs34884895 GRCh37: 6:7585795-7585795
GRCh38: 6:7585562-7585562
28 DSP NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) SNV Uncertain significance 44875 rs140965835 GRCh37: 6:7556022-7556022
GRCh38: 6:7555789-7555789
29 DSP NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) SNV Uncertain significance 199861 rs781084693 GRCh37: 6:7569467-7569467
GRCh38: 6:7569234-7569234
30 DSP NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) SNV Uncertain significance 44899 rs148478829 GRCh37: 6:7580488-7580488
GRCh38: 6:7580255-7580255
31 DSP NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) SNV Uncertain significance 405222 rs748790273 GRCh37: 6:7569561-7569561
GRCh38: 6:7569328-7569328
32 DSP NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) SNV Uncertain significance 178962 rs727504570 GRCh37: 6:7585869-7585869
GRCh38: 6:7585636-7585636
33 DSP NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) SNV Uncertain significance 161227 rs34738426 GRCh37: 6:7581747-7581747
GRCh38: 6:7581514-7581514
34 DSP NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) SNV Uncertain significance 188465 rs141508330 GRCh37: 6:7579985-7579985
GRCh38: 6:7579752-7579752
35 DSP NM_004415.4(DSP):c.137G>A (p.Gly46Asp) SNV Uncertain significance 451932 rs140403872 GRCh37: 6:7542285-7542285
GRCh38: 6:7542052-7542052
36 DSP NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) SNV Uncertain significance 191643 rs199597935 GRCh37: 6:7585312-7585312
GRCh38: 6:7585079-7585079
37 DSP NM_004415.4(DSP):c.1483G>A (p.Val495Met) SNV Uncertain significance 228635 rs372014020 GRCh37: 6:7569482-7569482
GRCh38: 6:7569249-7569249
38 DSP NM_004415.4(DSP):c.1574+14G>T SNV Uncertain significance 44863 rs200443042 GRCh37: 6:7569587-7569587
GRCh38: 6:7569354-7569354
39 DSP NM_004415.4(DSP):c.1575-15C>G SNV Uncertain significance 516260 rs369184165 GRCh37: 6:7570655-7570655
GRCh38: 6:7570422-7570422
40 DSP NM_004415.4(DSP):c.1344G>A (p.Leu448=) SNV Uncertain significance 199836 rs138226280 GRCh37: 6:7568747-7568747
GRCh38: 6:7568514-7568514
41 DSP NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) SNV Uncertain significance 199874 rs755099716 GRCh37: 6:7576661-7576661
GRCh38: 6:7576428-7576428
42 DSP NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) SNV Uncertain significance 451060 rs757753880 GRCh37: 6:7581485-7581485
GRCh38: 6:7581252-7581252
43 DSP NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) SNV Uncertain significance 44924 rs142803672 GRCh37: 6:7581590-7581590
GRCh38: 6:7581357-7581357
44 DSP NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) SNV Uncertain significance 199904 rs146642551 GRCh37: 6:7583974-7583974
GRCh38: 6:7583741-7583741
45 DSP NM_004415.4(DSP):c.913A>G (p.Ile305Val) SNV Uncertain significance 357938 rs17604693 GRCh37: 6:7565727-7565727
GRCh38: 6:7565494-7565494
46 DSP NM_004415.4(DSP):c.943C>T (p.Arg315Cys) SNV Uncertain significance 44982 rs200476515 GRCh37: 6:7566613-7566613
GRCh38: 6:7566380-7566380
47 DSP NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) SNV Uncertain significance 44969 rs142717240 GRCh37: 6:7585962-7585962
GRCh38: 6:7585729-7585729
48 DSP NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) SNV Uncertain significance 357943 rs755067397 GRCh37: 6:7574969-7574969
GRCh38: 6:7574736-7574736
49 DSP NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) SNV Uncertain significance 357965 rs147484870 GRCh37: 6:7585378-7585378
GRCh38: 6:7585145-7585145
50 DSP NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) SNV Uncertain significance 180330 rs200243976 GRCh37: 6:7581309-7581309
GRCh38: 6:7581076-7581076

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

72
# Symbol AA change Variation ID SNP ID
1 DSP p.Asn287Lys VAR_015569 rs121912993
2 DSP p.Arg2366Cys VAR_015570 rs28931610

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....