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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Wrinkly Skin Syndrome:

Name: Wrinkly Skin Syndrome 51 47 24 53 69 26 12 67
Wss 53 69
 
Wrinkled Skin Syndrome 53
Weaver Syndrome 67

Characteristics:

Orphanet epidemiological data:

53
wrinkly skin syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
wrinkly skin syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 278250
Orphanet53 ORPHA2834
UMLS via Orphanet68 C0406587
MESH via Orphanet39 C536750
ICD10 via Orphanet30 Q82.8
MedGen36 C0406587
MeSH38 D003483

Summaries for Wrinkly Skin Syndrome

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NIH Rare Diseases:47 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:69 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:70 Wrinkly skin syndrome is a hereditary connective tissue disorder that is inherited in an autosomal... more...

Description from OMIM:51 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 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:

 63 (show all 69)
id Description HPO Frequency HPO Source Accession
1 cutis laxa63 hallmark (90%) HP:0000973
2 deep palmar crease63 hallmark (90%) HP:0006191
3 lack of skin elasticity63 hallmark (90%) HP:0100679
4 microcephaly63 typical (50%) HP:0000252
5 malar flattening63 typical (50%) HP:0000272
6 hypertelorism63 typical (50%) HP:0000316
7 facial asymmetry63 typical (50%) HP:0000324
8 carious teeth63 typical (50%) HP:0000670
9 delayed eruption of teeth63 typical (50%) HP:0000684
10 dry skin63 typical (50%) HP:0000958
11 muscular hypotonia63 typical (50%) HP:0001252
12 joint hypermobility63 typical (50%) HP:0001382
13 intrauterine growth retardation63 typical (50%) HP:0001511
14 alopecia63 typical (50%) HP:0001596
15 kyphosis63 typical (50%) HP:0002808
16 skeletal muscle atrophy63 typical (50%) HP:0003202
17 abnormality of the hip bone63 typical (50%) HP:0003272
18 abnormality of dental morphology63 typical (50%) HP:0006482
19 prematurely aged appearance63 typical (50%) HP:0007495
20 abnormality of adipose tissue63 typical (50%) HP:0009124
21 cognitive impairment63 typical (50%) HP:0100543
22 hernia63 typical (50%) HP:0100790
23 skin ulcer63 typical (50%) HP:0200042
24 prominent occiput63 occasional (7.5%) HP:0000269
25 myopia63 occasional (7.5%) HP:0000545
26 upslanted palpebral fissure63 occasional (7.5%) HP:0000582
27 optic atrophy63 occasional (7.5%) HP:0000648
28 seizures63 occasional (7.5%) HP:0001250
29 atria septal defect63 occasional (7.5%) HP:0001631
30 short stature63 occasional (7.5%) HP:0004322
31 abnormality of retinal pigmentation63 occasional (7.5%) HP:0007703
32 inguinal hernia63 HP:0000023
33 cryptorchidism63 HP:0000028
34 high palate63 HP:0000218
35 progressive microcephaly63 HP:0000253
36 wide anterior fontanel63 HP:0000260
37 delayed cranial suture closure63 HP:0000270
38 epicanthus63 HP:0000286
39 smooth philtrum63 HP:0000319
40 long philtrum63 HP:0000343
41 low-set ears63 HP:0000369
42 wide nasal bridge63 HP:0000431
43 downslanted palpebral fissures63 HP:0000494
44 microdontia63 HP:0000691
45 delayed speech and language development63 HP:0000750
46 pectus excavatum63 HP:0000767
47 osteopenia63 HP:0000938
48 intellectual disability63 HP:0001249
49 congenital hip dislocation63 HP:0001374
50 failure to thrive63 HP:0001508
51 umbilical hernia63 HP:0001537
52 nasal speech63 HP:0001611
53 talipes equinovarus63 HP:0001762
54 pes planus63 HP:0001763
55 premature rupture of membranes63 HP:0001788
56 short nail63 HP:0001799
57 fragile nails63 HP:0001808
58 deep plantar creases63 HP:0001869
59 wormian bones63 HP:0002645
60 scoliosis63 HP:0002650
61 coxa vara63 HP:0002812
62 slender long bone63 HP:0003100
63 abnormal isoelectric focusing of serum transferrin63 HP:0003160
64 scapular winging63 HP:0003691
65 neonatal wrinkled skin of hands and feet63 HP:0007414
66 palmoplantar cutis laxa63 HP:0007517
67 sparse hair63 HP:0008070
68 hypoplasia of the musculature63 HP:0009004
69 atrial septal aneurysm63 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 Syndrome26 24

Anatomical Context for Wrinkly Skin Syndrome

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MalaCards organs/tissues related to Wrinkly Skin Syndrome:

35
Skin, Bone, Eye, Skeletal muscle

Animal Models for Wrinkly Skin Syndrome or affiliated genes

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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet