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Wrinkly skin syndrome

Type of Gerodermia osteodysplastica

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Cutis Laxa: 213
      - Wrinkly skin syndrome: 2
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Genetic Skin Diseases: 47
    - Cutis Laxa: 213
      - Wrinkly skin syndrome: 2
- Connective Tissue Diseases: 3269
  - Cutis Laxa: 213
    - Wrinkly skin syndrome: 2

Related Diseases

1.	recessive Cutis laxa

Experts

1.	Morava, Eva: 2 articles (09/2009 - 01/2008)
2.	Guillard, Maïlys: 1 article (09/2009)
3.	Lefeber, Dirk J: 1 article (09/2009)
4.	Wevers, Ron A: 1 article (09/2009)
5.	ARCL Debré-type Study Group: 1 article (01/2008)
6.	Annaert, Wim: 1 article (01/2008)
7.	Brunner, Han G: 1 article (01/2008)
8.	Budde, Birgit: 1 article (01/2008)
9.	Dimopoulou, Aikaterini: 1 article (01/2008)
10.	Fischer, Bjoern: 1 article (01/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Wrinkly skin syndrome:

1.	Proton-Translocating ATPases (ATPase, H+)IBA 01/01/2008 - "We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa type II or wrinkly skin syndrome. "
2.	ElastinIBA 09/01/2009 - "Interestingly, similar mutations have been found in patients with wrinkly skin syndrome, without the presence of severe skin symptoms of elastin deficiency. "