restrictive dermopathy

Summary
Synonym
  • Infantile restrictive dermopathy
  • Lethal tight skin contracture syndrome
  • hyperkeratosis-contracture syndrome
  • lethal restrictive dermopathy
  • tight skin contracture syndrome
Definition
A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.
Super Class
skin disease
External Links
Disease Ontology
DOID:0060762
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
537 ATP6AP1 ATPase H+ transporting accessory protein 1
847 CAT catalase
1634 DCN decorin
1717 DHCR7 7-dehydrocholesterol reductase
1892 ECHS1 enoyl-CoA hydratase, short chain 1
5336 PLCG2 phospholipase C gamma 2
5373 PMM2 phosphomannomutase 2
9469 CHST3 carbohydrate sulfotransferase 3
9487 PIGL phosphatidylinositol glycan anchor biosynthesis class L

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024