Details of Disease | DrugMAP

General Information of Disease (ID: DISFUI2E)

Disease Name	Wrinkly skin syndrome
Synonyms	wrinkled skin syndrome; wrinkly skin syndrome; WSS
Definition	A type of cutis laxa that is 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 skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).
Disease Hierarchy	DIS9CZA4: Autosomal recessive cutis laxa type 2A DISFUI2E: Wrinkly skin syndrome
Disease Identifiers	MONDO ID MONDO_0010208 MESH ID C536750 UMLS CUI C0406587 OMIM ID 278250 MedGen ID 98030 Orphanet ID 2834 SNOMED CT ID 238875009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KMT2A	TT1GNDM	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP6V0A2	OTJBDX0Y	Definitive	Autosomal recessive	[2]
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References

1	Wiedemann-Steiner syndrome in two patients from Portugal.Am J Med Genet A. 2020 Jan;182(1):25-28. doi: 10.1002/ajmg.a.61407. Epub 2019 Nov 11.
2	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan;40(1):32-4. doi: 10.1038/ng.2007.45. Epub 2007 Dec 23.