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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 |
|---|---|---|---|
| 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:0002126 | Polymicrogyria |
| HP:0002187 | Intellectual disability, profound |
| HP:0002208 | Coarse hair |
| HP:0002361 | Psychomotor deterioration |
| HP:0002465 | Poor speech |
| HP:0002761 | Generalized joint hypermobility |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0003196 | Short nose |
| HP:0003199 | Decreased muscle mass |
| HP:0004322 | Short stature |
