autosomal recessive cutis laxa type IIC

Summary
Definition
An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.
Super Class
autosomal recessive cutis laxa type II classic type
External Links
Disease Ontology
DOID:0070140
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
The Human Phenotype Ontology
Displaying entries 21 - 30 of 54 in total
HPO ID HPO Term
HP:0001302 Pachygyria
HP:0001305 Dandy-Walker malformation
HP:0001321 Cerebellar hypoplasia
HP:0001339 Lissencephaly
HP:0001374 Congenital hip dislocation
HP:0001476 Delayed closure of the anterior fontanelle
HP:0001508 Failure to thrive
HP:0001511 Intrauterine growth retardation
HP:0001582 Redundant skin
HP:0002097 Emphysema
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