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MIRAGE
congenital generalized lipodystrophy type 4
Summary
- Synonym
-
- Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
- congenital generalised lipodystrophy type 4
- generalised congenital lipodystrophy type 4
- generalised congenital lipodystrophy with myopathy
- generalized congenital lipodystrophy type 4
- generalized congenital lipodystrophy with myopathy
- Definition
- A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
- Super Class
- congenital generalized lipodystrophy
External Links
- Disease Ontology
- DOID:0111138
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6NZI2 | Caveolae-associated protein 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O54724 | Caveolae-associated protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001833 | Long foot |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0001176 | Large hands |
| HP:0010465 | Precocious puberty in females |
| HP:0001397 | Hepatic steatosis |
| HP:0000876 | Oligomenorrhea |
| HP:0002240 | Hepatomegaly |
| HP:0000141 | Amenorrhea |
| HP:0001639 | Hypertrophic cardiomyopathy |
