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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:0010989 | Abnormality of the intrinsic pathway |
| HP:0011003 | High myopia |
| HP:0011968 | Feeding difficulties |
| HP:0100874 | Thick hair |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000160 | Narrow mouth |
| HP:0000252 | Microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000545 | Myopia |
| HP:0001249 | Intellectual disability |
