KEGG   DISEASE: Nevo syndrome
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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00980  Nevo syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H00980  Nevo syndrome
Pathway
hsa00310  Lysine degradation
Gene
PLOD [HSA:5351] [KO:K00473]
Comment
Ehlers-Danlos syndrome kyphoscoliosis type is described in H00802.
Other DBs
ICD-11: LD2C
MeSH: C536113
OMIM: 601451
Reference
  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)
DOI:10.1002/ajmg.a.30529
Reference
PMID:8574422
  Authors
Hilderink BG, Brunner HG
  Title
Nevo syndrome.
  Journal
Clin Dysmorphol 4:319-23 (1995)
DOI:10.1097/00019605-199510000-00007
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