WSS
MCID: WRN004
MIFTS: 34

Wrinkly Skin Syndrome (WSS)

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

Aliases & Classifications for Wrinkly Skin Syndrome

MalaCards integrated aliases for Wrinkly Skin Syndrome:

Name: Wrinkly Skin Syndrome 58 77 54 60 76 30 13 6 41 74
Wss 58 60 76
Wrinkled Skin Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
wrinkly skin syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
skin wrinkling improves with age


HPO:

33
wrinkly skin syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Wrinkly Skin Syndrome

NIH Rare Diseases : 54 Wrinkly skin syndromeis 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.

MalaCards based summary : Wrinkly Skin Syndrome, also known as wss, is related to weaver syndrome and woodhouse-sakati syndrome. An important gene associated with Wrinkly Skin Syndrome is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2). Affiliated tissues include skin, bone and cortex, and related phenotypes are excessive skin wrinkling on dorsum of hands and fingers and hypertelorism

UniProtKB/Swiss-Prot : 76 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 : 77 Wrinkly skin syndrome is a hereditary connective tissue disorder that is inherited in an autosomal... more...

Description from OMIM: 278250

Related Diseases for Wrinkly Skin Syndrome

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 weaver syndrome 11.8
2 woodhouse-sakati syndrome 11.6
3 cutis laxa, autosomal dominant 1 11.2
4 autosomal recessive cutis laxa type i 11.2
5 wiedemann-steiner syndrome 11.1
6 cutis laxa 10.3
7 acrocephalopolysyndactyly type iii 10.2
8 intracranial aneurysm 10.2
9 cutis laxa, autosomal recessive, type ia 10.1
10 cutis laxa, autosomal recessive, type iia 10.1
11 geroderma osteodysplasticum 10.1
12 cartilage-hair hypoplasia 10.1
13 pulmonary hypertension, primary, 1 10.0
14 thrombosis 10.0
15 aortic coarctation 10.0

Graphical network of the top 20 diseases related to Wrinkly Skin Syndrome:



Diseases related to Wrinkly Skin Syndrome

Symptoms & Phenotypes for Wrinkly Skin Syndrome

Human phenotypes related to Wrinkly Skin Syndrome:

60 33 (show top 50) (show all 81)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 excessive skin wrinkling on dorsum of hands and fingers 60 33 obligate (100%) Obligate (100%) HP:0007407
2 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
4 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
5 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
6 osteopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000938
7 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
8 inguinal hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000023
9 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
10 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
11 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
12 umbilical hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001537
13 pes planus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001763
14 smooth philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000319
15 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
16 decreased muscle mass 60 33 hallmark (90%) Very frequent (99-80%) HP:0003199
17 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
18 delayed eruption of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000684
19 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
20 wormian bones 60 33 hallmark (90%) Very frequent (99-80%) HP:0002645
21 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
22 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
23 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008897
24 lipodystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009125
25 congenital hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001374
26 kyphoscoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002751
27 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
28 broad nasal tip 60 33 hallmark (90%) Very frequent (99-80%) HP:0000455
29 nasal speech 60 33 hallmark (90%) Very frequent (99-80%) HP:0001611
30 coxa vara 60 33 hallmark (90%) Very frequent (99-80%) HP:0002812
31 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
32 deep plantar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0001869
33 deep palmar crease 60 33 hallmark (90%) Very frequent (99-80%) HP:0006191
34 generalized joint laxity 60 33 hallmark (90%) Very frequent (99-80%) HP:0002761
35 delayed closure of the anterior fontanelle 60 33 hallmark (90%) Very frequent (99-80%) HP:0001476
36 abnormality of the cheek 60 33 hallmark (90%) Very frequent (99-80%) HP:0004426
37 cutis laxa 60 33 hallmark (90%) Very frequent (99-80%) HP:0000973
38 progressive microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000253
39 premature rupture of membranes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001788
40 abnormal isoelectric focusing of serum transferrin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003160
41 slender long bones with narrow diaphyses 60 33 hallmark (90%) Very frequent (99-80%) HP:0004993
42 prominent nasolabial fold 60 33 hallmark (90%) Very frequent (99-80%) HP:0005272
43 recurrent sinopulmonary infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0005425
44 multiple palmar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0006114
45 thick cerebral cortex 60 33 hallmark (90%) Very frequent (99-80%) HP:0006891
46 prominent veins on trunk 60 33 hallmark (90%) Very frequent (99-80%) HP:0007457
47 multiple plantar creases 60 33 hallmark (90%) Very frequent (99-80%) HP:0008113
48 infantile muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008947
49 high nonceruloplasmin-bound serum copper 60 33 hallmark (90%) Very frequent (99-80%) HP:0010838
50 fragmented elastic fibers in the dermis 60 33 hallmark (90%) Very frequent (99-80%) HP:0025167

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Growth Other:
failure to thrive

Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Feet:
pes planus
deep plantar creases
club feet

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
sparse hair

Head And Neck Head:
progressive microcephaly
large anterior fontanel
delayed closure of fontanels
normal birth head circumference

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin
normal isoelectric focusing of apolipoprotein ciii

Head And Neck Mouth:
high-arched palate

Skin Nails Hair Nails:
short nails
brittle nails

Neurologic Central Nervous System:
speech delay

Skeletal Limbs:
slender long bones

Respiratory:
recurrent lower respiratory infections

Head And Neck Ears:
low-set ears

Skeletal:
osteopenia

Skeletal Spine:
scoliosis
kyphosis

Abdomen External Features:
umbilical hernia

Head And Neck Face:
smooth philtrum
long philtrum
sagging cheeks

Skeletal Skull:
wormian bones

Skeletal Pelvis:
congenital hip dislocation
coxa vara

Skin Nails Hair Skin:
deep plantar creases
deep palmar creases
generalized skin wrinkling
skin laxity

Prenatal Manifestations Delivery:
premature rupture of membranes

Head And Neck Nose:
broad nasal bridge

Head And Neck Teeth:
delayed tooth eruption
small teeth
dental caries

Skeletal Hands:
hyperextensible joints
deep palmar creases

Voice:
nasal voice

Muscle Soft Tissue:
reduced muscle mass
abnormal subcutaneous fat distribution

Skin Nails Hair Skin Histology:
frayed, broken, and shortened elastic fibers

Clinical features from OMIM:

278250

Drugs & Therapeutics for Wrinkly Skin Syndrome

Search Clinical Trials , NIH Clinical Center for Wrinkly Skin Syndrome

Genetic Tests for Wrinkly Skin Syndrome

Genetic tests related to Wrinkly Skin Syndrome:

# Genetic test Affiliating Genes
1 Wrinkly Skin Syndrome 30 ATP6V0A2

Anatomical Context for Wrinkly Skin Syndrome

MalaCards organs/tissues related to Wrinkly Skin Syndrome:

42
Skin, Bone, Cortex

Publications for Wrinkly Skin Syndrome

Articles related to Wrinkly Skin Syndrome:

(show all 30)
# Title Authors Year
1
Novel and facile criterion to assess the accuracy of WSS estimation by 4D flow MRI. ( 30743192 )
2019
2
Demonstration of a 3 × 4 tunable bandwidth WSS with tunable attenuation using compact spatial light paths. ( 28788798 )
2017
3
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )
2016
4
Low WSS and High OSI Measured by 3D Cine PC MRI Reflect High Pulmonary Artery Pressures in Suspected Secondary Pulmonary Arterial Hypertension. ( 26567758 )
2016
5
Development of a new tool to evaluate work support needs and guide vocational rehabilitation: the work-ability support scale (WSS). ( 24786967 )
2015
6
Spectrally-efficient all-optical OFDM by WSS and AWG. ( 25969193 )
2015
7
Concepts of relative sample outlier (RSO) and weighted sample similarity (WSS) for improving performance of clustering genes: co-function and co-regulation. ( 26333265 )
2015
8
Flow diversion treatment: intra-aneurismal blood flow velocity and WSS reduction are parameters to predict aneurysm thrombosis. ( 22926629 )
2012
9
Transmission of 1.936 Tb/s (11 × 176 Gb/s) DP-16QAM superchannel signals over 640 km SSMF with EDFA only and 300 GHz WSS channel. ( 23262855 )
2012
10
Performance of support-vector-machine-based classification on 15 systematic review topics evaluated with the WSS@95 measure. ( 21169622 )
2011
11
Rapid diagnosis of vibriosis and white spot syndrome (WSS) in the culture of shrimp, Penaeus monodon in Philippines. ( 20661640 )
2010
12
Coronary artery WSS profiling using a geometry reconstruction based on biplane angiography. ( 19229618 )
2009
13
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. ( 18304158 )
2008
14
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. ( 18348262 )
2008
15
Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms? ( 18789104 )
2008
16
The determination of gas phase dry deposition fluxes and mass transfer coefficients (MTCs) of polychlorinated biphenyls (PCBs) using a modified water surface sampler (WSS). ( 17481697 )
2007
17
Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. ( 16780467 )
2006
18
Wrinkly skin syndrome. ( 16045708 )
2005
19
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? ( 11424136 )
2001
20
The influence of an endogenous beta3 subunit on recombinant GABA(A) receptor assembly and pharmacology in WSS-1 cells and transiently transfected HEK293 cells. ( 10728882 )
2000
21
Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. ( 10337674 )
1999
22
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. ( 10406678 )
1999
23
Neurological involvement in a child with the wrinkly skin syndrome. ( 9916839 )
1999
24
Del(2q)--cause of the wrinkly skin syndrome? ( 8500259 )
1993
25
The wrinkly skin syndrome: a report of a case and review of the literature. ( 2268976 )
1990
26
Continuous and non-continuous use of WSS solution for oral rehydration therapy among rural Gambian women. ( 3385858 )
1988
27
Wrinkly skin syndrome: phenotype and additional manifestations. ( 3321993 )
1987
28
The wrinkly skin syndrome: a report of two siblings from Saudi Arabia. ( 6851222 )
1983
29
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. ( 7163267 )
1982
30
The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue. ( 4765201 )
1973

Variations for Wrinkly Skin Syndrome

ClinVar genetic disease variations for Wrinkly Skin Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V0A2 NM_012463.3(ATP6V0A2): c.294+1G> A single nucleotide variant Pathogenic rs80356751 GRCh37 Chromosome 12, 124206996: 124206996
2 ATP6V0A2 NM_012463.3(ATP6V0A2): c.294+1G> A single nucleotide variant Pathogenic rs80356751 GRCh38 Chromosome 12, 123722449: 123722449
3 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs745590426 GRCh37 Chromosome 12, 124197190: 124197190
4 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs745590426 GRCh38 Chromosome 12, 123712643: 123712643

Expression for Wrinkly Skin Syndrome

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

Pathways for Wrinkly Skin Syndrome

GO Terms for Wrinkly Skin Syndrome

Sources for Wrinkly Skin Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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