MCID: WRN004
MIFTS: 32

Wrinkly Skin Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Wrinkly Skin Syndrome

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Wrinkly Skin Syndrome:

Name: Wrinkly Skin Syndrome 52 48 24 54 70 27 12 68
Wss 54 70
 
Wrinkled Skin Syndrome 54
Weaver Syndrome 68

Characteristics:

Orphanet epidemiological data:

54
wrinkly skin syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
wrinkly skin syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 278250
Orphanet54 ORPHA2834
UMLS via Orphanet69 C0406587
MESH via Orphanet40 C536750
ICD10 via Orphanet31 Q82.8
MedGen37 C0406587
MeSH39 D003483

Summaries for Wrinkly Skin Syndrome

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NIH Rare Diseases:48 Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby's soft spot on the top of his/her head). Other associated signs and symptoms vary widely. Case reports suggest that this condition is often inherited in an autosomal recessive fashion. It can be caused by mutations in the ATP6VOA2 gene. Wrinkly skin syndrome appears to be represent the mild version of autosomal recessive cutis laxa syndrome type 2. Last updated: 11/21/2016

MalaCards based summary: Wrinkly Skin Syndrome, also known as wss, is related to woodhouse-sakati syndrome and weaver syndrome, and has symptoms including cutis laxa, deep palmar crease and lack of skin elasticity. An important gene associated with Wrinkly Skin Syndrome is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2). Affiliated tissues include skin, bone and eye.

UniProtKB/Swiss-Prot:70 Wrinkly skin syndrome: A rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.

Wikipedia:71 Wrinkly skin syndrome is a hereditary connective tissue disorder that is inherited in an autosomal... more...

Description from OMIM:52 278250

Related Diseases for Wrinkly Skin Syndrome

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Diseases related to Wrinkly Skin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1woodhouse-sakati syndrome10.9
2weaver syndrome10.9
3wiedemann-steiner syndrome10.9
4weaver syndrome 110.9
5cutis laxa10.1
6geroderma osteodysplasticum9.9
7cartilage-hair hypoplasia9.9

Graphical network of diseases related to Wrinkly Skin Syndrome:



Diseases related to wrinkly skin syndrome

Symptoms & Phenotypes for Wrinkly Skin Syndrome

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Symptoms by clinical synopsis from OMIM:

278250

Clinical features from OMIM:

278250

Human phenotypes related to Wrinkly Skin Syndrome:

 64 (show all 69)
id Description HPO Frequency HPO Source Accession
1 cutis laxa64 hallmark (90%) HP:0000973
2 deep palmar crease64 hallmark (90%) HP:0006191
3 lack of skin elasticity64 hallmark (90%) HP:0100679
4 microcephaly64 typical (50%) HP:0000252
5 malar flattening64 typical (50%) HP:0000272
6 hypertelorism64 typical (50%) HP:0000316
7 facial asymmetry64 typical (50%) HP:0000324
8 carious teeth64 typical (50%) HP:0000670
9 delayed eruption of teeth64 typical (50%) HP:0000684
10 dry skin64 typical (50%) HP:0000958
11 muscular hypotonia64 typical (50%) HP:0001252
12 joint hypermobility64 typical (50%) HP:0001382
13 intrauterine growth retardation64 typical (50%) HP:0001511
14 alopecia64 typical (50%) HP:0001596
15 kyphosis64 typical (50%) HP:0002808
16 skeletal muscle atrophy64 typical (50%) HP:0003202
17 abnormality of the hip bone64 typical (50%) HP:0003272
18 abnormality of dental morphology64 typical (50%) HP:0006482
19 prematurely aged appearance64 typical (50%) HP:0007495
20 abnormality of adipose tissue64 typical (50%) HP:0009124
21 cognitive impairment64 typical (50%) HP:0100543
22 hernia64 typical (50%) HP:0100790
23 skin ulcer64 typical (50%) HP:0200042
24 prominent occiput64 occasional (7.5%) HP:0000269
25 myopia64 occasional (7.5%) HP:0000545
26 upslanted palpebral fissure64 occasional (7.5%) HP:0000582
27 optic atrophy64 occasional (7.5%) HP:0000648
28 seizures64 occasional (7.5%) HP:0001250
29 atria septal defect64 occasional (7.5%) HP:0001631
30 short stature64 occasional (7.5%) HP:0004322
31 abnormality of retinal pigmentation64 occasional (7.5%) HP:0007703
32 inguinal hernia64 HP:0000023
33 cryptorchidism64 HP:0000028
34 high palate64 HP:0000218
35 progressive microcephaly64 HP:0000253
36 wide anterior fontanel64 HP:0000260
37 delayed cranial suture closure64 HP:0000270
38 epicanthus64 HP:0000286
39 smooth philtrum64 HP:0000319
40 long philtrum64 HP:0000343
41 low-set ears64 HP:0000369
42 wide nasal bridge64 HP:0000431
43 downslanted palpebral fissures64 HP:0000494
44 microdontia64 HP:0000691
45 delayed speech and language development64 HP:0000750
46 pectus excavatum64 HP:0000767
47 osteopenia64 HP:0000938
48 intellectual disability64 HP:0001249
49 congenital hip dislocation64 HP:0001374
50 failure to thrive64 HP:0001508
51 umbilical hernia64 HP:0001537
52 nasal speech64 HP:0001611
53 talipes equinovarus64 HP:0001762
54 pes planus64 HP:0001763
55 premature rupture of membranes64 HP:0001788
56 short nail64 HP:0001799
57 fragile nails64 HP:0001808
58 deep plantar creases64 HP:0001869
59 wormian bones64 HP:0002645
60 scoliosis64 HP:0002650
61 coxa vara64 HP:0002812
62 slender long bone64 HP:0003100
63 abnormal isoelectric focusing of serum transferrin64 HP:0003160
64 scapular winging64 HP:0003691
65 neonatal wrinkled skin of hands and feet64 HP:0007414
66 palmoplantar cutis laxa64 HP:0007517
67 sparse hair64 HP:0008070
68 hypoplasia of the musculature64 HP:0009004
69 atrial septal aneurysm64 HP:0011995

UMLS symptoms related to Wrinkly Skin Syndrome:


muscle spasticity

Drugs & Therapeutics for Wrinkly Skin Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Wrinkly Skin Syndrome

Genetic Tests for Wrinkly Skin Syndrome

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Genetic tests related to Wrinkly Skin Syndrome:

id Genetic test Affiliating Genes
1 Wrinkly Skin Syndrome27 24

Anatomical Context for Wrinkly Skin Syndrome

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MalaCards organs/tissues related to Wrinkly Skin Syndrome:

36
Skin, Bone, Eye, Skeletal muscle

Publications for Wrinkly Skin Syndrome

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Articles related to Wrinkly Skin Syndrome:

(show all 16)
idTitleAuthorsYear
1
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? (27730053)
2016
2
Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms? (18789104)
2008
3
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. (18348262)
2008
4
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. (18304158)
2008
5
Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. (16780467)
2006
6
Wrinkly skin syndrome. (16045708)
2005
7
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? (11424136)
2001
8
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. (10406678)
1999
9
Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. (10337674)
1999
10
Neurological involvement in a child with the wrinkly skin syndrome. (9916839)
1999
11
Del(2q)--cause of the wrinkly skin syndrome? (8500259)
1993
12
The wrinkly skin syndrome: a report of a case and review of the literature. (2268976)
1990
13
Wrinkly skin syndrome: phenotype and additional manifestations. (3321993)
1987
14
The wrinkly skin syndrome: a report of two siblings from Saudi Arabia. (6851222)
1983
15
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. (7163267)
1982
16
The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue. (4765201)
1973

Variations for Wrinkly Skin Syndrome

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Clinvar genetic disease variations for Wrinkly Skin Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATP6V0A2NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs)duplicationPathogenicrs886043377GRCh37Chr 12, 124197190: 124197190
2ATP6V0A2ATP6V0A2, 10132G-ASNVPathogenicChr na, -1: -1

Expression for genes affiliated with Wrinkly Skin Syndrome

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Search GEO for disease gene expression data for Wrinkly Skin Syndrome.

Pathways for genes affiliated with Wrinkly Skin Syndrome

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GO Terms for genes affiliated with Wrinkly Skin Syndrome

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Sources for Wrinkly Skin Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet