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autosomal recessive cutis laxa type IIIB
Summary
- Synonym
-
- ARCL3B
- De Barsy syndrome B
- Definition
- An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.
- Super Class
- autosomal recessive cutis laxa type III
External Links
- Disease Ontology
- DOID:0070138
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 537 | ATP6AP1 | ATPase H+ transporting accessory protein 1 | |
| 847 | CAT | catalase | |
| 1634 | DCN | decorin | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 1892 | ECHS1 | enoyl-CoA hydratase, short chain 1 | |
| 5336 | PLCG2 | phospholipase C gamma 2 | |
| 5373 | PMM2 | phosphomannomutase 2 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L |
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 |
