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Progeroid and marfanoid aspect-lipodystrophy syndrome
1 associated gene
31 connected diseases
No signs/symptoms info
Disease Type of connection
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Autosomal dominant cutis laxa
Autosomal recessive cutis laxa type 1
Supravalvular aortic stenosis
Williams syndrome
Lethal arteriopathy syndrome due to FBLN4 deficiency
Congenital glaucoma
Juvenile glaucoma
Wagner disease
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Hereditary sensorimotor neuropathy with hyperelastic skin
Spinocerebellar ataxia type 7
Spondylocarpotarsal synostosis
Congenital contractural arachnodactyly
Congenital stromal corneal dystrophy
Dyssegmental dysplasia, Silverman-Handmaker type
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Schwartz-Jampel syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
FBN1 P35555134797
No signs/symptoms info available.