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 11 - 20 of 20 in total
Gene ID Gene Symbol Description Source
9487 PIGL phosphatidylinositol glycan anchor biosynthesis class L
9791 PTDSS1 phosphatidylserine synthase 1
11253 MAN1B1 mannosidase alpha class 1B member 1
11285 B4GALT7 beta-1,4-galactosyltransferase 7
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
26229 B3GAT3 beta-1,3-glucuronyltransferase 3
55556 ENOSF1 enolase superfamily member 1
79644 SRD5A3 steroid 5 alpha-reductase 3
81031 SLC2A10 solute carrier family 2 member 10
126792 B3GALT6 beta-1,3-galactosyltransferase 6
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 61 - 70 of 86 in total
HPO ID HPO Term
HP:0000400 Macrotia
HP:0000411 Protruding ear
HP:0000414 Bulbous nose
HP:0000431 Wide nasal bridge
HP:0000518 Cataract
HP:0000581 Blepharophimosis
HP:0000621 Entropion
HP:0001290 Generalized hypotonia
HP:0001385 Hip dysplasia
HP:0001519 Disproportionate tall stature
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