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Hereditary sensorimotor neuropathy with hyperelastic skin
1 associated gene
23 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant cutis laxa
Autosomal recessive cutis laxa type 1
Weill-Marchesani syndrome
Lethal arteriopathy syndrome due to FBLN4 deficiency
Supravalvular aortic stenosis
Williams syndrome
Congenital glaucoma
Glaucoma secondary to spherophakia / ectopia lentis and megalocornea
Acromicric dysplasia
Dentatorubral pallidoluysian atrophy
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Gray platelet syndrome
Isolated ectopia lentis
Jeune syndrome
Marfan syndrome type 1
Meckel syndrome
Mosaic variegated aneuploidy syndrome
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
FBLN5 Q9UBX5604580
No signs/symptoms info available.