KEGG   DISEASE: H00980Help
Entry
H00980                      Disease                                

Name
Nevo syndrome
Description
Nevo syndrome is a rare autosomal recessive disorder characterized by perinatal overgrowth, joint laxity, kyphosis, muscular hypotonia, wrist drop, spindle shaped fingers, and volar edema. It is an allelic disorder of Ehlers-Danlos syndrome kyphoscoliosis type.
Category
Connective tissue disease
BRITE hierarchy
Pathway
Lysine degradation
Gene
PLOD [HSA:5351] [KO:K00473]
Comment
Ehlers-Danlos syndrome kyphoscoliosis type is described in H00802.
Other DBs
MeSH: 
OMIM: 
Reference
PMID:15666309 (description, gene)
  Authors
Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B
  Title
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
  Journal
Am J Med Genet A 133A:158-64 (2005)
Reference
PMID:8574422 (description)
  Authors
Hilderink BG, Brunner HG
  Title
Nevo syndrome.
  Journal
Clin Dysmorphol 4:319-23 (1995)

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