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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 |
|---|---|---|---|
| 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
