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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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7L5Y1 | Mitochondrial enolase superfamily member 1 | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 | |
| Q96L58 | Beta-1,3-galactosyltransferase 6 | |
| Q9UBM7 | 7-dehydrocholesterol reductase | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UKM7 | Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase | |
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
