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MCID: WRN004
MIFTS: 35

Wrinkly Skin Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Metabolic diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Wrinkly Skin Syndrome

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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 Eye diseases Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Sources

Summaries for Wrinkly Skin Syndrome

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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 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 eye, 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

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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 woodhouse-sakati syndrome 11.4
2 weaver syndrome 11.2
3 cutis laxa, autosomal dominant 1 11.0
4 autosomal recessive cutis laxa type i 11.0
5 wiedemann-steiner syndrome 10.9
6 cutis laxa 10.2
7 acrocephalopolysyndactyly type iii 10.0
8 intracranial aneurysm 10.0
9 sakati syndrome 10.0
10 aneurysm 10.0
11 cutis laxa, autosomal recessive, type ia 9.9
12 cutis laxa, autosomal recessive, type iia 9.9
13 geroderma osteodysplasticum 9.9
14 cartilage-hair hypoplasia 9.9
15 aortic coarctation 9.9

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



Diseases related to Wrinkly Skin Syndrome
Sources

Symptoms & Phenotypes for Wrinkly Skin Syndrome

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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

GenitourinaryInternal GenitaliaMale:
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:
coxa vara
congenital hip dislocation

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 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
25 broad nasal tip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000455
26 nasal speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0001611
27 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
28 coxa vara 59 32 hallmark (90%) Very frequent (99-80%) HP:0002812
29 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
30 dandy-walker malformation 59 32 frequent (33%) Frequent (79-30%) HP:0001305
31 kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002751
32 deep plantar creases 59 32 hallmark (90%) Very frequent (99-80%) HP:0001869
33 deep palmar crease 59 32 hallmark (90%) Very frequent (99-80%) HP:0006191
34 status epilepticus 59 32 frequent (33%) Frequent (79-30%) HP:0002133
35 congenital hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001374
36 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
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
Sources

Drugs & Therapeutics for Wrinkly Skin Syndrome

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Search Clinical Trials , NIH Clinical Center for Wrinkly Skin Syndrome

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Genetic Tests for Wrinkly Skin Syndrome

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Genetic tests related to Wrinkly Skin Syndrome:

# Genetic test Affiliating Genes
1 Wrinkly Skin Syndrome 29 ATP6V0A2
Sources

Anatomical Context for Wrinkly Skin Syndrome

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MalaCards organs/tissues related to Wrinkly Skin Syndrome:

41
Skin, Bone, Eye, Cortex
Sources

Publications for Wrinkly Skin Syndrome

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Articles related to Wrinkly Skin Syndrome:

(show all 16)
# Title Authors Year
1
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? ( 27730053 )
2016
2
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. ( 18304158 )
2008
3
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. ( 18348262 )
2008
4
Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms? ( 18789104 )
2008
5
Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. ( 16780467 )
2006
6
Wrinkly skin syndrome. ( 16045708 )
2005
7
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? ( 11424136 )
2001
8
Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. ( 10337674 )
1999
9
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. ( 10406678 )
1999
10
Neurological involvement in a child with the wrinkly skin syndrome. ( 9916839 )
1999
11
Del(2q)--cause of the wrinkly skin syndrome? ( 8500259 )
1993
12
The wrinkly skin syndrome: a report of a case and review of the literature. ( 2268976 )
1990
13
Wrinkly skin syndrome: phenotype and additional manifestations. ( 3321993 )
1987
14
The wrinkly skin syndrome: a report of two siblings from Saudi Arabia. ( 6851222 )
1983
15
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. ( 7163267 )
1982
16
The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue. ( 4765201 )
1973
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Variations for Wrinkly Skin Syndrome

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ClinVar genetic disease variations for Wrinkly Skin Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V0A2 ATP6V0A2, 10132G-A single nucleotide variant Pathogenic
2 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs886043377 GRCh37 Chromosome 12, 124197190: 124197190
3 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs886043377 GRCh38 Chromosome 12, 123712643: 123712643
Sources

Expression for Wrinkly Skin Syndrome

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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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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