KEGG   DISEASE: Acromesomelic dysplasia
Entry
H02543                      Disease                                
Name
Acromesomelic dysplasia
  Subgroup
Acromesomelic dysplasia, Maroteaux type (AMD1) [DS:H00470]
Grebe dysplasia (AMD2) [DS:H00466]
Acromesomelic dysplasia 2B (AMD2B) [DS:H00467]
Acromesomelic dysplasia, Demirhan type (AMD3) [DS:H00468]
Description
Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations in four genes (GDF5, NPR2, BMPR1B, and PRKG2) have been reported to cause different forms of AMD.
Category
Congenital malformation
Brite
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
    H02543  Acromesomelic dysplasia
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06507  TGFB signaling
   H02543  Acromesomelic dysplasia
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H02543  Acromesomelic dysplasia
Pathway
hsa04022  cGMP-PKG signaling pathway
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
Network
nt06325 Hormone/cytokine signaling
nt06507 TGFB signaling
Gene
(AMD1) NPR2 [HSA:4882] [KO:K12324]
(AMD2) GDF5 [HSA:8200] [KO:K04664]
(AMD3) BMPR1B [HSA:658] [KO:K13578]
(AMD4) PRKG2 [HSA:5593] [KO:K19477]
Other DBs
ICD-11: LD24.9
ICD-10: Q77.8
OMIM: 602875 200700 228900 201250 609441 619636
Reference
PMID:26926249 (AMD1-3)
  Authors
Khan S, Basit S, Khan MA, Muhammad N, Ahmad W
  Title
Genetics of human isolated acromesomelic dysplasia.
  Journal
Eur J Med Genet 59:198-203 (2016)
DOI:10.1016/j.ejmg.2016.02.011
Reference
PMID:33106379 (AMD4)
  Authors
Diaz-Gonzalez F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montane L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldan B, Nishimura G, Offiah AC, Faruq M, Heath KE
  Title
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
  Journal
J Med Genet jmedgenet-2020-107177 (2020)
DOI:10.1136/jmedgenet-2020-107177
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