KEGG   DISEASE: Acromesomelic dysplasia, Maroteaux type
Entry
H00470                      Disease                                

Name
Acromesomelic dysplasia, Maroteaux type
Description
Acromesomelic dysplasia, Maroteaux type is an autosomal recessive skeletal dysplasia that affects postnatal skeletal growth. Affected indivisials show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00470  Acromesomelic dysplasia, Maroteaux type
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00470  Acromesomelic dysplasia, Maroteaux type
Gene
NPR2 [HSA:4882] [KO:K12324]
Other DBs
ICD-11: LD24.9
ICD-10: Q77.8
MeSH: C535661
OMIM: 602875
Reference
  Authors
Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR
  Title
Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux.
  Journal
Hum Mol Genet 18:267-77 (2009)
DOI:10.1093/hmg/ddn354
Reference
  Authors
Bartels CF, Bukulmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML
  Title
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
  Journal
Am J Hum Genet 75:27-34 (2004)
DOI:10.1086/422013
Reference
  Authors
Hachiya R, Ohashi Y, Kamei Y, Suganami T, Mochizuki H, Mitsui N, Saitoh M, Sakuragi M, Nishimura G, Ohashi H, Hasegawa T, Ogawa Y
  Title
Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development.
  Journal
J Clin Endocrinol Metab 92:4009-14 (2007)
DOI:10.1210/jc.2007-1101
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