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

WSS MCID: WRN004 MIFTS: 35	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 ⁵⁷ ⁷⁶ ⁵³ ⁵⁹ ⁷⁵ ²⁹ ¹³ ⁶ ⁴⁰ ⁷³

Wss ⁵⁷ ⁵⁹ ⁷⁵

Wrinkled Skin Syndrome ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
skin wrinkling improves with age

HPO:

³²

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: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁹

Rare neurological diseases

Rare bone diseases

Rare skin diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 278250

Orphanet ⁵⁹ ORPHA2834

UMLS via Orphanet ⁷⁴ C0406587

MESH via Orphanet ⁴⁵ C536750

ICD10 via Orphanet ³⁴ Q82.8

MedGen ⁴² C0406587

MeSH ⁴⁴ D003483

SNOMED-CT via HPO ⁶⁹ 258211005 396232000 204878001 more

UMLS ⁷³ C0406587

Sources

Summaries for Wrinkly Skin Syndrome

NIH Rare Diseases : ⁵³ 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 hypertelorism and low-set ears

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ 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	11.5
3	cutis laxa, autosomal dominant 1	11.2
4	autosomal recessive cutis laxa type i	11.2
5	wiedemann-steiner syndrome	11.0
6	cutis laxa	10.3
7	acrocephalopolysyndactyly type iii	10.1
8	intracranial aneurysm	10.1
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:

Sources

Symptoms & Phenotypes for Wrinkly Skin Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Wrinkly Skin Syndrome:

⁵⁹ ³² (show top 50) (show all 81)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	hypertelorism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000316
2	low-set ears ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000369
3	pectus excavatum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000767
4	high palate ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000218
5	osteopenia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000938
6	failure to thrive ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001508
7	inguinal hernia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000023
8	global developmental delay ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001263
9	carious teeth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000670
10	delayed speech and language development ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000750
11	umbilical hernia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001537
12	pes planus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001763
13	smooth philtrum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000319
14	short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004322
15	decreased muscle mass ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003199
16	long philtrum ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000343
17	delayed eruption of teeth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000684
18	epicanthus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000286
19	wormian bones ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002645
20	slurred speech ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001350
21	cryptorchidism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000028
22	intrauterine growth retardation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001511
23	postnatal growth retardation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008897
24	lipodystrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009125
25	congenital hip dislocation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001374
26	status epilepticus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002133
27	downslanted palpebral fissures ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000494
28	broad nasal tip ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000455
29	nasal speech ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001611
30	progressive cerebellar ataxia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002073
31	coxa vara ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002812
32	sparse hair ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008070
33	dandy-walker malformation ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001305
34	kyphoscoliosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002751
35	deep plantar creases ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001869
36	deep palmar crease ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006191
37	generalized joint laxity ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002761
38	delayed closure of the anterior fontanelle ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001476
39	abnormality of the cheek ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004426
40	cutis laxa ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000973
41	excessive skin wrinkling on dorsum of hands and fingers ⁵⁹ ³²	obligate (100%)	Obligate (100%)	HP:0007407
42	progressive microcephaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000253
43	premature rupture of membranes ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001788
44	abnormal isoelectric focusing of serum transferrin ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003160
45	slender long bones with narrow diaphyses ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004993
46	prominent nasolabial fold ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005272
47	recurrent sinopulmonary infections ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005425
48	multiple palmar creases ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006114
49	thick cerebral cortex ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006891
50	prominent veins on trunk ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007457

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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 ²⁹	ATP6V0A2

Sources

Anatomical Context for Wrinkly Skin Syndrome

MalaCards organs/tissues related to Wrinkly Skin Syndrome:

⁴¹

Skin, Bone, Cortex

Sources

Publications for Wrinkly Skin Syndrome

Articles related to Wrinkly Skin Syndrome:

(show all 30)

#	Title	Authors	Year
1	Demonstration of a 3 × 4 tunable bandwidth WSS with tunable attenuation using compact spatial light paths. ( 28788798 )	Xie D...Yu S	2017
2	Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )	Arora P....Gupta R.	2016
3	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
4	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
5	Spectrally-efficient all-optical OFDM by WSS and AWG. ( 25969193 )	Hoxha J...Cincotti G	2015
6	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
7	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
8	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
9	A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. ( 21963443 )	Habib R...Ahmad W	2011
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 )		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 )	Cindoruk SS...Tasdemir Y	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 )	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 )		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 )		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 )	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 ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	20301755 18157129

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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	rs886043377	GRCh37	Chromosome 12, 124197190: 124197190
4	ATP6V0A2	NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs)	duplication	Pathogenic	rs886043377	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

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⁴⁸ NCBI Bookshelf

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⁵⁹ Orphanet

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Wrinkly Skin Syndrome:

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