autosomal recessive cutis laxa type IID

Summary
Synonym
  • ARCL2D
Definition
An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
Super Class
autosomal recessive cutis laxa type II classic type
External Links
Disease Ontology
DOID:0070129
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 20 in total
Gene ID Gene Symbol Description Source
142 PARP1 poly(ADP-ribose) polymerase 1
523 ATP6V1A ATPase H+ transporting V1 subunit A
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
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
407846 st6gal2 ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 81 - 86 of 86 in total
HPO ID HPO Term
HP:0004970 Ascending tubular aorta aneurysm
HP:0008689 Bilateral cryptorchidism
HP:0009933 Narrow naris
HP:0010954 Hypoplastic right heart
HP:0011712 Right bundle branch block
HP:0012385 Camptodactyly
Displaying all 2 entries
Gene ID Gene Symbol Description
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
523 ATP6V1A ATPase H+ transporting V1 subunit A

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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