Marfanoid–progeroid–lipodystrophy syndrome
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:describedBy |
gptkb:Nature_Genetics
|
| gptkbp:firstDescribed |
2016
|
| gptkbp:hasFeature |
absence of subcutaneous fat
|
| gptkbp:hasGeneticCause |
FBN1 gene mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
Marfanoid–progeroid–lipodystrophy syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
616914
|
| gptkbp:symptom |
gptkb:bone
short stature scoliosis insulin resistance joint hypermobility premature aging marfanoid habitus muscle hypertrophy generalized lipodystrophy progeroid appearance |
| gptkbp:synonym |
gptkb:MPL_syndrome
gptkb:progeroid_fibrillinopathy |
| gptkbp:bfsParent |
gptkb:Lizzie_Velásquez
|
| gptkbp:bfsLayer |
6
|