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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 |
|---|---|---|---|
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 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 |
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 |
