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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005989 | Redundant neck skin |
| HP:0006891 | Thick cerebral cortex |
| HP:0007392 | Excessive wrinkled skin |
| HP:0007457 | Prominent veins on trunk |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution |
| HP:0008070 | Sparse hair |
| HP:0008897 | Postnatal growth retardation |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009125 | Lipodystrophy |
| HP:0010989 | Abnormality of the intrinsic pathway |
