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autosomal recessive cutis laxa type IID
Summary
- Synonym
-
- ARCL2D
- Definition
- An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.
- Super Class
- autosomal recessive cutis laxa type II classic type
External Links
- Disease Ontology
- DOID:0070129
- 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:0000400 | Macrotia |
| HP:0000411 | Protruding ear |
| HP:0000414 | Bulbous nose |
| HP:0000431 | Wide nasal bridge |
| HP:0000518 | Cataract |
| HP:0000581 | Blepharophimosis |
| HP:0000621 | Entropion |
| HP:0001290 | Generalized hypotonia |
| HP:0001385 | Hip dysplasia |
| HP:0001519 | Disproportionate tall stature |
