cutis laxa

Summary
Synonym
  • loose skin
Definition
A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.
Super Class
skin disease
Disease Ontology
DOID:3144
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
538 ATP7A ATPase copper transporting alpha
2006 ELN elastin
2202 EFEMP1 EGF containing fibulin extracellular matrix protein 1
4052 LTBP1 latent transforming growth factor beta binding protein 1
8425 LTBP4 latent transforming growth factor beta binding protein 4
10516 FBLN5 fibulin 5
30008 EFEMP2 EGF containing fibulin extracellular matrix protein 2
Displaying all 6 entries
Gene ID Gene Symbol Description Source
11977 Atp7a ATPase, copper transporting, alpha polypeptide
23876 Fbln5 fibulin 5
58859 Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2
108075 Ltbp4 latent transforming growth factor beta binding protein 4
216616 Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1
268977 Ltbp1 latent transforming growth factor beta binding protein 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24941 Atp7a ATPase copper transporting alpha
29158 Fbln5 fibulin 5
59107 Ltbp1 latent transforming growth factor beta binding protein 1

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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: December 9, 2024