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 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
The Human Phenotype Ontology
Displaying entries 1 - 10 of 54 in total
HPO ID HPO Term
HP:0000023 Inguinal hernia
HP:0000218 High palate
HP:0000253 Progressive microcephaly
HP:0000272 Malar flattening
HP:0000316 Hypertelorism
HP:0000319 Smooth philtrum
HP:0000343 Long philtrum
HP:0000369 Low-set ears
HP:0000455 Broad nasal tip
HP:0000463 Anteverted nares
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