autosomal recessive cutis laxa type IIB

Summary
Synonym
  • ARCL2, progeroid type
  • ARCL2B
Definition
A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
Super Class
autosomal recessive disease cutis laxa
External Links
Disease Ontology
DOID:0070137
Mondo Disease Ontology
ORDO
OMIM
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