KEGG   DISEASE: Laurence-Moon syndrome
Entry
H02137                      Disease                                
Name
Laurence-Moon syndrome
  Supergrp
PNPLA6-related disorders [DS:H01898]
Description
Laurence-Moon syndrome is caused by mutations in the PNPLA6 gene, encoding neuropathy target esterase (NTE). It is characterised by chorioretinopathy, pituitary dysfunction, childhood onset of ataxia, and spastic paraplegia. Polydactyly and renal disease are absent. So it is distinct from Bardet-Biedl syndrome.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02137  Laurence-Moon syndrome
Pathway
hsa00564  Glycerophospholipid metabolism
Gene
PNPLA6 [HSA:10908] [KO:K14676]
Comment
See also H00418.
Other DBs
ICD-11: LD90.Y
MeSH: D007849
OMIM: 245800
Reference
PMID:20286155
  Authors
ROTH AA
  Title
Familial eunuchoidism; the Laurence-Moon-Biedl syndrome.
  Journal
J Urol 57:427-45 (1947)
DOI:10.1016/S0022-5347(17)69652-6
Reference
PMID:25480986
  Authors
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM
  Title
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
  Journal
J Med Genet 52:85-94 (2015)
DOI:10.1136/jmedgenet-2014-102856
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