MCID: WRN004
MIFTS: 34

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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Wrinkly Skin Syndrome:

Name: Wrinkly Skin Syndrome 50 46 23 52 68 25 12 66
Wss 52 68
 
Wrinkled Skin Syndrome 52
Weaver Syndrome 66

Characteristics:

Orphanet epidemiological data:

52
wrinkly skin syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
wrinkly skin syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 278250
Orphanet52 ORPHA2834
ICD10 via Orphanet29 Q82.8
MESH via Orphanet38 C536750
UMLS via Orphanet67 C0406587
MedGen35 C0406587
MeSH37 D003483

Summaries for Wrinkly Skin Syndrome

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NIH Rare Diseases:46 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. related conditions include autosomal recessive cutis laxa syndrome type 2 and cantu syndrome. last updated: 10/12/2011

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:68 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:69 Wrinkly skin syndrome is a hereditary connective tissue disorder that is inherited in an autosomal... more...

Description from OMIM:50 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 syndrome11.1
2weaver syndrome11.1
3weaver syndrome 111.1
4cutis laxa10.1
5geroderma osteodysplasticum10.0
6cartilage-hair hypoplasia10.0
7colorectal cancer 129.5ATP6V0A2, NF1
8wrinkly skin syndrome9.2ATP6V0A2, NF1

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

HPO human phenotypes related to Wrinkly Skin Syndrome:

(show all 77)
id Description Frequency HPO Source Accession
1 cutis laxa hallmark (90%) HP:0000973
2 deep palmar crease hallmark (90%) HP:0006191
3 lack of skin elasticity hallmark (90%) HP:0100679
4 microcephaly typical (50%) HP:0000252
5 malar flattening typical (50%) HP:0000272
6 hypertelorism typical (50%) HP:0000316
7 facial asymmetry typical (50%) HP:0000324
8 carious teeth typical (50%) HP:0000670
9 delayed eruption of teeth typical (50%) HP:0000684
10 dry skin typical (50%) HP:0000958
11 muscular hypotonia typical (50%) HP:0001252
12 joint hypermobility typical (50%) HP:0001382
13 intrauterine growth retardation typical (50%) HP:0001511
14 alopecia typical (50%) HP:0001596
15 kyphosis typical (50%) HP:0002808
16 skeletal muscle atrophy typical (50%) HP:0003202
17 abnormality of the hip bone typical (50%) HP:0003272
18 abnormality of dental morphology typical (50%) HP:0006482
19 prematurely aged appearance typical (50%) HP:0007495
20 abnormality of adipose tissue typical (50%) HP:0009124
21 cognitive impairment typical (50%) HP:0100543
22 hernia typical (50%) HP:0100790
23 skin ulcer typical (50%) HP:0200042
24 prominent occiput occasional (7.5%) HP:0000269
25 myopia occasional (7.5%) HP:0000545
26 upslanted palpebral fissure occasional (7.5%) HP:0000582
27 optic atrophy occasional (7.5%) HP:0000648
28 seizures occasional (7.5%) HP:0001250
29 atria septal defect occasional (7.5%) HP:0001631
30 short stature occasional (7.5%) HP:0004322
31 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
32 inguinal hernia HP:0000023
33 cryptorchidism HP:0000028
34 high palate HP:0000218
35 progressive microcephaly HP:0000253
36 wide anterior fontanel HP:0000260
37 delayed cranial suture closure HP:0000270
38 epicanthus HP:0000286
39 hypertelorism HP:0000316
40 smooth philtrum HP:0000319
41 long philtrum HP:0000343
42 low-set ears HP:0000369
43 wide nasal bridge HP:0000431
44 downslanted palpebral fissures HP:0000494
45 carious teeth HP:0000670
46 delayed eruption of teeth HP:0000684
47 microdontia HP:0000691
48 delayed speech and language development HP:0000750
49 pectus excavatum HP:0000767
50 osteopenia HP:0000938
51 intellectual disability HP:0001249
52 muscular hypotonia HP:0001252
53 congenital hip dislocation HP:0001374
54 joint hypermobility HP:0001382
55 failure to thrive HP:0001508
56 umbilical hernia HP:0001537
57 nasal speech HP:0001611
58 talipes equinovarus HP:0001762
59 pes planus HP:0001763
60 premature rupture of membranes HP:0001788
61 short nail HP:0001799
62 fragile nails HP:0001808
63 deep plantar creases HP:0001869
64 wormian bones HP:0002645
65 scoliosis HP:0002650
66 kyphosis HP:0002808
67 coxa vara HP:0002812
68 slender long bone HP:0003100
69 abnormal isoelectric focusing of serum transferrin HP:0003160
70 scapular winging HP:0003691
71 short stature HP:0004322
72 deep palmar crease HP:0006191
73 neonatal wrinkled skin of hands and feet HP:0007414
74 palmoplantar cutis laxa HP:0007517
75 sparse hair HP:0008070
76 hypoplasia of the musculature HP:0009004
77 atrial septal aneurysm 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 Syndrome25 23

Anatomical Context for Wrinkly Skin Syndrome

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MalaCards organs/tissues related to Wrinkly Skin Syndrome:

34
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 15)
idTitleAuthorsYear
1
Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms? (18789104)
2008
2
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. (18348262)
2008
3
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. (18304158)
2008
4
Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. (16780467)
2006
5
Wrinkly skin syndrome. (16045708)
2005
6
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? (11424136)
2001
7
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. (10406678)
1999
8
Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. (10337674)
1999
9
Neurological involvement in a child with the wrinkly skin syndrome. (9916839)
1999
10
Del(2q)--cause of the wrinkly skin syndrome? (8500259)
1993
11
The wrinkly skin syndrome: a report of a case and review of the literature. (2268976)
1990
12
Wrinkly skin syndrome: phenotype and additional manifestations. (3321993)
1987
13
The wrinkly skin syndrome: a report of two siblings from Saudi Arabia. (6851222)
1983
14
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. (7163267)
1982
15
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
1ATP6V0A2ATP6V0A2, 10132G-Asingle nucleotide variantPathogenic

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet