WSS
MCID: WRN004
MIFTS: 35

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 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:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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 cortex, and related phenotypes are excessive skin wrinkling on dorsum of hands and fingers and hypertelorism

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 is a hereditary connective tissue disorder that is inherited in an autosomal... more...

More information from OMIM: 278250

Related Diseases for Wrinkly Skin Syndrome

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:

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 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
4 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
5 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
6 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
7 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
8 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
9 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
10 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
11 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
12 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
13 pes planus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001763
14 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
15 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
16 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
17 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
18 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
19 decreased muscle mass 58 31 hallmark (90%) Very frequent (99-80%) HP:0003199
20 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
21 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
22 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
23 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
24 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
25 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
26 lipodystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009125
27 congenital hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001374
28 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
29 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
30 nasal speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001611
31 coxa vara 58 31 hallmark (90%) Very frequent (99-80%) HP:0002812
32 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
33 deep plantar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0001869
34 deep palmar crease 58 31 hallmark (90%) Very frequent (99-80%) HP:0006191
35 recurrent sinopulmonary infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0005425
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 cutis laxa 58 31 hallmark (90%) Very frequent (99-80%) HP:0000973
39 delayed closure of the anterior fontanelle 58 31 hallmark (90%) Very frequent (99-80%) HP:0001476
40 abnormality of the cheek 58 31 hallmark (90%) Very frequent (99-80%) HP:0004426
41 progressive microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000253
42 abnormal isoelectric focusing of serum transferrin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003160
43 premature rupture of membranes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001788
44 slender long bones with narrow diaphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0004993
45 prominent nasolabial fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0005272
46 multiple palmar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0006114
47 thick cerebral cortex 58 31 hallmark (90%) Very frequent (99-80%) HP:0006891
48 prominent veins on trunk 58 31 hallmark (90%) Very frequent (99-80%) HP:0007457
49 multiple plantar creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0008113
50 high nonceruloplasmin-bound serum copper 58 31 hallmark (90%) Very frequent (99-80%) HP:0010838

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Spine:
scoliosis
kyphosis

Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Feet:
pes planus
deep plantar creases
club feet

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Skull:
wormian bones

Skin Nails Hair Hair:
sparse hair

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

Prenatal Manifestations Delivery:
premature rupture of membranes

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

Growth Other:
failure to thrive

Skeletal:
osteopenia

Abdomen External Features:
umbilical hernia

Growth Height:
short stature

Head And Neck Face:
smooth philtrum
long philtrum
sagging cheeks

Skeletal Pelvis:
congenital hip dislocation
coxa vara

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

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

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 29 ATP6V0A2

Anatomical Context for Wrinkly Skin Syndrome

MalaCards organs/tissues related to Wrinkly Skin Syndrome:

40
Skin, Bone, Cortex

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. 61 56 6
18157129 2008
2
ATP6V0A2-Related Cutis Laxa 61 6
20301755 2009
3
Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. 61 56
18348262 2008
4
Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. 61 56
10406678 1999
5
Neurological involvement in a child with the wrinkly skin syndrome. 61 56
9916839 1999
6
Del(2q)--cause of the wrinkly skin syndrome? 61 56
8500259 1993
7
The wrinkly skin syndrome: a report of a case and review of the literature. 61 56
2268976 1990
8
Wrinkly skin syndrome: phenotype and additional manifestations. 61 56
3321993 1987
9
The wrinkly skin syndrome: a report of two siblings from Saudi Arabia. 61 56
6851222 1983
10
The Wrinkly Skin Syndrome: a new heritable disorder of connective tissue. 61 56
4765201 1973
11
Mutations in PYCR1 cause cutis laxa with progeroid features. 56
19648921 2009
12
Defective protein glycosylation in patients with cutis laxa syndrome. 56
15657616 2005
13
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 56
15107842 2004
14
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: report of a brother and sister from Turkey. 56
1700609 1990
15
Cutis laxa associated with severe intrauterine growth retardation and congenital dislocation of the hip. 56
5579863 1971
16
Cutis laxa autosomal recessive type II or wrinkly skin syndrome? 61
27730053 2016
17
Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 61
26516448 2015
18
The Diagnostic Dilemma of Cutis Laxa: A Report of Two Cases with Genotypic Dissimilarity. 61
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
26320891 2015
20
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. 61
24035636 2013
21
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. 61
22773132 2012
22
[Congenital autosomal recessive Cutis laxa Type II A Wrinkly-Skin-Syndrome]. 61
22821296 2012
23
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). 61
21739576 2011
24
Autosomal recessive cutis laxa syndrome revisited. 61
19401719 2009
25
Cellular physiology of the renal H+ATPase. 61
19561496 2009
26
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 61
19006212 2008
27
Acral cutaneous findings in wrinkly skin syndrome: are they tripe palms? 61
18789104 2008
28
Gerodermia osteodysplastica/wrinkly skin syndrome: report of three patients and brief review of the literature. 61
18304158 2008
29
Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. 61
16780467 2006
30
Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations. 61
16532134 2006
31
Wrinkly skin syndrome. 61
16045708 2005
32
The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients. 61
16179223 2005
33
Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? 61
11424136 2001
34
[Wrinkly skin syndrome]. 61
11529041 2001
35
Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. 61
10337674 1999
36
The wrinkly skin syndrome and cartilage-hair hypoplasia (a new variant?) in sibs of the same family. 61
7163267 1982

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>ASNV 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.1018C>T (p.Arg340Trp)SNV Uncertain significance 451817 rs781305219 12:124221798-124221798 12:123737251-123737251
5 ATP6V0A2 NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)SNV Uncertain significance 307578 rs144499089 12:124209215-124209215 12:123724668-123724668

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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