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autosomal recessive cutis laxa type IIB
Summary
- Synonym
-
- ARCL2, progeroid type
- ARCL2B
- Definition
- A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3.
- Super Class
- autosomal recessive disease cutis laxa
External Links
- Disease Ontology
- DOID:0070137
- Mondo Disease Ontology
- ORDO
- 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
