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autosomal recessive cutis laxa type IIA
Summary
- Synonym
-
- ARCL2A
- Definition
- An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.
- Super Class
- autosomal recessive cutis laxa type II classic type
External Links
- Disease Ontology
- DOID:0070134
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L | |
| 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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0001290 | Generalized hypotonia |
| HP:0001382 | Joint hypermobility |
| HP:0001763 | Pes planus |
| HP:0002007 | Frontal bossing |
| HP:0002299 | Brittle hair |
| HP:0002650 | Scoliosis |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0010719 | Abnormality of hair texture |
| HP:0011800 | Midface retrusion |
