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Standards Ontologies Notations
autosomal recessive cutis laxa type IIA

Summary
Synonym
  • ARCL2A
Definition
An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
Super Class
autosomal recessive cutis laxa type II classic type
Disease Ontology
DOID:0070134
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
Displaying 1 entry
Gene ID Gene Symbol Description Source
21871 Atp6v0a2 ATPase, H+ transporting, lysosomal V0 subunit A2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
174743 vha-6 V-type proton ATPase 116 kDa subunit a 3
177626 vha-5 V-type proton ATPase 116 kDa subunit a 2
178219 vha-7 V-type proton ATPase 116 kDa subunit a 4
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9Y487 V-type proton ATPase 116 kDa subunit a 2
The Human Phenotype Ontology
Displaying entries 61 - 70 of 71 in total
HPO ID HPO Term
HP:0011003 High myopia
HP:0011968 Feeding difficulties
HP:0100874 Thick hair
HP:0001763 Pes planus
HP:0002007 Frontal bossing
HP:0002299 Brittle hair
HP:0002650 Scoliosis
HP:0008872 Feeding difficulties in infancy
HP:0010719 Abnormality of hair texture
HP:0011800 Midface retrusion
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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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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