Wrinkly Skin Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

WSS MCID: WRN004 MIFTS: 34	Wrinkly Skin Syndrome (WSS) Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁶⁰

Rare neurological diseases

Rare bone diseases

Rare skin diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 278250

MeSH ⁴⁵ D003483

MESH via Orphanet ⁴⁶ C536750

ICD10 via Orphanet ³⁵ Q82.8

UMLS via Orphanet ⁷⁵ C0406587

Orphanet ⁶⁰ ORPHA2834

MedGen ⁴³ C0406587

SNOMED-CT via HPO ⁷⁰ 111266001 113194005 14447001 more

UMLS ⁷⁴ C0406587

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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

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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
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:

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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

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Drugs & Therapeutics for Wrinkly Skin Syndrome

Search Clinical Trials , NIH Clinical Center for Wrinkly Skin Syndrome

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Genetic Tests for Wrinkly Skin Syndrome

Genetic tests related to Wrinkly Skin Syndrome:

#	Genetic test	Affiliating Genes
1	Wrinkly Skin Syndrome ³⁰	ATP6V0A2

Sources

Anatomical Context for Wrinkly Skin Syndrome

MalaCards organs/tissues related to Wrinkly Skin Syndrome:

⁴²

Skin, Bone, Cortex

Sources

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 )	Ko S...Song S	2019
2	Demonstration of a 3 × 4 tunable bandwidth WSS with tunable attenuation using compact spatial light paths. ( 28788798 )	Xie D...Yu S	2017
3	Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )	Arora P....Gupta R.	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 )	Terada M...Alley M	2016
5	Development of a new tool to evaluate work support needs and guide vocational rehabilitation: the work-ability support scale (WSS). ( 24786967 )	Fadyl JK...Turner-Stokes L	2015
6	Spectrally-efficient all-optical OFDM by WSS and AWG. ( 25969193 )	Hoxha J...Cincotti G	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 )	Bhattacharya A...De RK	2015
8	Flow diversion treatment: intra-aneurismal blood flow velocity and WSS reduction are parameters to predict aneurysm thrombosis. ( 22926629 )	Kulcs?r Z...R?fenacht DA	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 )	Li J...Xu K	2012
10	Performance of support-vector-machine-based classification on 15 systematic review topics evaluated with the WSS@95 measure. ( 21169622 )	Cohen AM	2011
11	Rapid diagnosis of vibriosis and white spot syndrome (WSS) in the culture of shrimp, Penaeus monodon in Philippines. ( 20661640 )	Caipang CM...Aguana MP	2010
12	Coronary artery WSS profiling using a geometry reconstruction based on biplane angiography. ( 19229618 )	Goubergrits L...Hege HC	2009
13	Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. ( 18304158 )	Nanda A....Anim J.T.	2008
14	Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. ( 18348262 )	Rajab A....Mundlos S.	2008
15	Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms? ( 18789104 )	MAPhrenschlager M....Ring J.	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 )	Cindoruk SS...Tasdemir Y	2007
17	Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. ( 16780467 )	Gupta N....Phadke S.R.	2006
18	Wrinkly skin syndrome. ( 16045708 )	Hamamy H....Ajlouni K.	2005
19	Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? ( 11424136 )	Al-Gazali L.I....Haas D.	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 )	Davies PA...Hales TG	2000
21	Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. ( 10337674 )	Boente M.C....Asial R.A.	1999
22	Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. ( 10406678 )	Zlotogora J.	1999
23	Neurological involvement in a child with the wrinkly skin syndrome. ( 9916839 )	Azuri J....Lerman-Sagie T.	1999
24	Del(2q)--cause of the wrinkly skin syndrome? ( 8500259 )	Kreuz F.R....Wittwer B.H.	1993
25	The wrinkly skin syndrome: a report of a case and review of the literature. ( 2268976 )	Hurvitz S.A....Goodman R.M.	1990
26	Continuous and non-continuous use of WSS solution for oral rehydration therapy among rural Gambian women. ( 3385858 )	Spain PL...McDivitt JA	1988
27	Wrinkly skin syndrome: phenotype and additional manifestations. ( 3321993 )	Casamassima A.C....Weiss F.H.	1987
28	The wrinkly skin syndrome: a report of two siblings from Saudi Arabia. ( 6851222 )	Karrar Z.A....Adam K.A.	1983
29	The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. ( 7163267 )	Goodman R.M....Hertz M.	1982
30	The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue. ( 4765201 )	Gazit E....Rotem Y.	1973

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Genes for Wrinkly Skin Syndrome

Genes related to Wrinkly Skin Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	1387.13	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Summaries Variants (show sections)	18157129 20301755

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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

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Expression for Wrinkly Skin Syndrome

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

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Pathways for Wrinkly Skin Syndrome

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GO Terms for Wrinkly Skin Syndrome

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Sources for Wrinkly Skin Syndrome

¹ BioSystems

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⁸ Cochrane Library

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

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⁵⁵ NINDS

⁵⁶ Novoseek

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⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Wrinkly Skin Syndrome (WSS)

Aliases & Classifications for Wrinkly Skin Syndrome

MalaCards integrated aliases for Wrinkly Skin Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Wrinkly Skin Syndrome

Related Diseases for Wrinkly Skin Syndrome

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

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

Symptoms & Phenotypes for Wrinkly Skin Syndrome

Human phenotypes related to Wrinkly Skin Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Wrinkly Skin Syndrome

Genetic Tests for Wrinkly Skin Syndrome

Genetic tests related to Wrinkly Skin Syndrome:

Anatomical Context for Wrinkly Skin Syndrome

MalaCards organs/tissues related to Wrinkly Skin Syndrome:

Publications for Wrinkly Skin Syndrome

Articles related to Wrinkly Skin Syndrome:

Genes for Wrinkly Skin Syndrome

Genes related to Wrinkly Skin Syndrome (1 elite genes):

Variations for Wrinkly Skin Syndrome

ClinVar genetic disease variations for Wrinkly Skin Syndrome:

Expression for Wrinkly Skin Syndrome

Pathways for Wrinkly Skin Syndrome

GO Terms for Wrinkly Skin Syndrome

Sources for Wrinkly Skin Syndrome