autosomal dominant cutis laxa 3

Summary
Synonym
  • ADCL3
Definition
An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Super Class
autosomal dominant cutis laxa
External Links
Disease Ontology
DOID:0070131
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 11 - 19 of 19 in total
Gene ID Gene Symbol Description Source
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

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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