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

WSS MCID: WRN004 MIFTS: 36	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 ⁵⁶ ⁷⁴ ⁵² ⁵⁸ ⁷³ ²⁹ ¹³ ⁶ ³⁹ ⁷¹

Wss ⁵⁶ ⁵⁸ ⁷³

Wrinkled Skin Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
skin wrinkling improves with age

HPO:

³¹

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: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁸

Rare neurological diseases

Rare bone diseases

Rare skin diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 278250

MeSH ⁴³ D003483

MESH via Orphanet ⁴⁴ C536750

ICD10 via Orphanet ³³ Q82.8

UMLS via Orphanet ⁷² C0406587

Orphanet ⁵⁸ ORPHA2834

MedGen ⁴¹ C0406587

SNOMED-CT via HPO ⁶⁸ 111266001 113194005 14447001 more

UMLS ⁷¹ C0406587

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Summaries for Wrinkly Skin Syndrome

NIH Rare Diseases : ⁵² 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 .

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

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low... more...

More information 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 34)

#	Related Disease	Score
1	woodhouse-sakati syndrome	12.0
2	weaver syndrome	11.6
3	cutis laxa, autosomal dominant 1	11.3
4	autosomal recessive cutis laxa type i	11.3
5	wiedemann-steiner syndrome	11.2
6	cutis laxa	10.5
7	cutis laxa, autosomal recessive, type iib	10.4
8	atp6v0a2-related cutis laxa	10.4
9	microcephaly	10.4
10	cutis laxa, autosomal recessive, type iia	10.3
11	atherosclerosis susceptibility	10.3
12	intracranial aneurysm	10.3
13	carotid stenosis	10.3
14	hypertelorism	10.1
15	chromosome 2q35 duplication syndrome	10.1
16	geroderma osteodysplasticum	10.1
17	cartilage-hair hypoplasia	10.1
18	autosomal recessive disease	10.1
19	status epilepticus	10.1
20	efemp2-related cutis laxa	10.1
21	fbln5-related cutis laxa	10.1
22	premature aging	10.1
23	atrial septal aneurysm	10.1
24	acrocephalopolysyndactyly type iii	10.1
25	coarctation of aorta	10.1
26	pulmonary hypertension, primary, 1	10.1
27	branchiootic syndrome 1	10.1
28	alacrima, achalasia, and mental retardation syndrome	10.1
29	vascular disease	10.1
30	hypogonadism	10.1
31	alopecia	10.1
32	aneurysm	10.1
33	cerebral aneurysms	10.1
34	pulmonary arterial hypertension associated with another disease	10.1

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

Sources

Symptoms & Phenotypes for Wrinkly Skin Syndrome

Human phenotypes related to Wrinkly Skin Syndrome:

⁵⁸ ³¹ (show top 50) (show all 79)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	excessive skin wrinkling on dorsum of hands and fingers ⁵⁸ ³¹	obligate (100%)	Obligate (100%)	HP:0007407
2	global developmental delay ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001263
3	inguinal hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000023
4	hypertelorism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000316
5	carious teeth ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000670
6	delayed speech and language development ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000750
7	umbilical hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001537
8	pes planus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001763
9	smooth philtrum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000319
10	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
11	failure to thrive ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001508
12	decreased muscle mass ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003199
13	cryptorchidism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000028
14	osteopenia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000938
15	intrauterine growth retardation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001511
16	postnatal growth retardation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008897
17	high palate ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000218
18	low-set ears ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000369
19	epicanthus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000286
20	pectus excavatum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000767
21	lipodystrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0009125
22	congenital hip dislocation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001374
23	kyphoscoliosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002751
24	downslanted palpebral fissures ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000494
25	delayed eruption of teeth ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000684
26	long philtrum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000343
27	nasal speech ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001611
28	wormian bones ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002645
29	coxa vara ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002812
30	sparse hair ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008070
31	deep plantar creases ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001869
32	deep palmar crease ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006191
33	cutis laxa ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000973
34	recurrent sinopulmonary infections ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005425
35	broad nasal tip ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000455
36	high myopia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011003
37	generalized joint laxity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002761
38	delayed closure of the anterior fontanelle ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001476
39	slender long bones with narrow diaphyses ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004993
40	infantile muscular hypotonia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008947
41	prominent veins on trunk ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007457
42	progressive microcephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000253
43	abnormality of the cheek ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004426
44	fragmented elastic fibers in the dermis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0025167
45	prominent nasolabial fold ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005272
46	premature rupture of membranes ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001788
47	abnormal isoelectric focusing of serum transferrin ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003160
48	multiple palmar creases ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006114
49	thick cerebral cortex ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0006891
50	multiple plantar creases ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008113

Symptoms via clinical synopsis from OMIM:

⁵⁶

Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Spine:
scoliosis
kyphosis

Skeletal Feet:
pes planus
deep plantar creases
club feet

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
low-set ears

Skeletal Pelvis:
congenital hip dislocation
coxa vara

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 Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Abdomen External Features:
umbilical hernia

Head And Neck Face:
smooth philtrum
long philtrum
sagging cheeks

Growth Other:
failure to thrive

Skeletal:
osteopenia

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Skull:
wormian bones

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

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:
deep palmar creases
hyperextensible joints

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 ²⁹	ATP6V0A2

Sources

Anatomical Context for Wrinkly Skin Syndrome

MalaCards organs/tissues related to Wrinkly Skin Syndrome:

⁴⁰

Skin, Bone, Testes, Cortex

Sources

Publications for Wrinkly Skin Syndrome

Articles related to Wrinkly Skin Syndrome:

(show all 36)

#	Title	Authors	PMID	Year
1	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. ⁵⁶ ⁶ ⁶¹	Kornak U...Mundlos S	18157129	2008
2	ATP6V0A2-Related Cutis Laxa ⁶¹ ⁶	Van Maldergem L...Kornak U	20301755	2009
3	Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. ⁵⁶ ⁶¹	Rajab A...Mundlos S	18348262	2008
4	Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. ⁵⁶ ⁶¹	Zlotogora J	10406678	1999
5	Neurological involvement in a child with the wrinkly skin syndrome. ⁵⁶ ⁶¹	Azuri J...Lerman-Sagie T	9916839	1999
6	Del(2q)--cause of the wrinkly skin syndrome? ⁵⁶ ⁶¹	Kreuz FR...Wittwer BH	8500259	1993
7	The wrinkly skin syndrome: a report of a case and review of the literature. ⁶¹ ⁵⁶	Hurvitz SA...Goodman RM	2268976	1990
8	Wrinkly skin syndrome: phenotype and additional manifestations. ⁶¹ ⁵⁶	Casamassima AC...Weiss FH	3321993	1987
9	The wrinkly skin syndrome: a report of two siblings from Saudi Arabia. ⁵⁶ ⁶¹	Karrar ZA...Adam KA	6851222	1983
10	The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue. ⁵⁶ ⁶¹	Gazit E...Rotem Y	4765201	1973
11	Mutations in PYCR1 cause cutis laxa with progeroid features. ⁵⁶	Reversade B...Kornak U	19648921	2009
12	Defective protein glycosylation in patients with cutis laxa syndrome. ⁵⁶	Morava E...Grunewald S	15657616	2005
13	Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. ⁵⁶	Wu X...Freeze HH	15107842	2004
14	Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey. ⁵⁶	Ogur G...Demiryont M	1700609	1990
15	Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. ⁵⁶	Reisner SH...Ben-Bassat M	5579863	1971
16	Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ⁶¹	Arora P...Gupta R	27730053	2016
17	Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. ⁶¹	Rahmati M...Zakeri M	26516448	2015
18	The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. ⁶¹	Goyal M...Kapoor S	26538727	2015
19	Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. ⁶¹	Fischer-Zirnsak B...Kornak U	26320891	2015
20	Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. ⁶¹	Dimopoulou A...Kornak U	24035636	2013
21	Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. ⁶¹	Fischer B...Kornak U	22773132	2012
22	[Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome]. ⁶¹	Tantcheva-Poor I...Mauch C	22821296	2012
23	Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). ⁶¹	Skidmore DL...Robertson SP	21739576	2011
24	Autosomal recessive cutis laxa syndrome revisited. ⁶¹	Morava E...Wevers RA	19401719	2009
25	Cellular physiology of the renal H+ATPase. ⁶¹	Blake-Palmer KG...Karet FE	19561496	2009
26	Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. ⁶¹	Newman WG...Black GC	19006212	2008
27	Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms? ⁶¹	Mohrenschlager M...Ring J	18789104	2008
28	Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. ⁶¹	Nanda A...Anim JT	18304158	2008
29	Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. ⁶¹	Gupta N...Phadke SR	16780467	2006
30	Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations. ⁶¹	Salih MA...Elgamal EA	16532134	2006
31	Wrinkly skin syndrome. ⁶¹	Hamamy H...Ajlouni K	16045708	2005
32	The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. ⁶¹	Van Buggenhout G...Vermeesch JR	16179223	2005
33	Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? ⁶¹	Al-Gazali LI...Haas D	11424136	2001
34	[Wrinkly skin syndrome]. ⁶¹	Nakamura M	11529041	2001
35	Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. ⁶¹	Boente MC...Asial RA	10337674	1999
36	The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. ⁶¹	Goodman RM...Hertz M	7163267	1982

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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	1377.27	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ 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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ATP6V0A2	NM_012463.4(ATP6V0A2):c.294+1G>A	SNV	Pathogenic	21499	rs80356751	12:124206996-124206996	12:123722449-123722449
2	ATP6V0A2	NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)	SNV	Conflicting interpretations of pathogenicity	307580	rs143802431	12:124212422-124212422	12:123727875-123727875
3	ATP6V0A2	NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	SNV	Uncertain significance	390767	rs143509747	12:124209328-124209328	12:123724781-123724781
4	ATP6V0A2	NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)	SNV	Uncertain significance	307578	rs144499089	12:124209215-124209215	12:123724668-123724668
5	ATP6V0A2	NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)	SNV	Uncertain significance	451817	rs781305219	12:124221798-124221798	12:123737251-123737251

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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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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MESH via Orphanet

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⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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