KEGG   DISEASE: Anauxetic dysplasia
Entry
H01967                      Disease                                

Name
Anauxetic dysplasia
Description
Anauxetic dysplasia (AD) is a spondylometaepiphyseal dysplasia with extreme dwarfism. Mutations in the RMRP gene that codes for an RNA subunit of the RNAse MRP complex are the cause of this disease. Recently, mutations in POP1 have been described in a few affected individuals. POP1 is a protein subunit of the MRP RNase complex.
Category
Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H01967  Anauxetic dysplasia
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
    H01967  Anauxetic dysplasia
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Gene
(ANXD1) RMRP [HSA:6023] [KO:K14576]
(ANXD2) POP1 [HSA:10940] [KO:K01164]
Other DBs
ICD-11: LD24.3
ICD-10: Q77.7
MeSH: C538256
OMIM: 607095 617396
Reference
  Authors
Horn D, Rupprecht E, Kunze J, Spranger J
  Title
Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism.
  Journal
J Med Genet 38:262-5 (2001)
DOI:10.1136/jmg.38.4.262
Reference
  Authors
Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Ruschendorf F, Sticht H, Spranger J, Muller D, Zweier C, Schmitt ME, Reis A, Rauch A
  Title
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
  Journal
Am J Hum Genet 77:795-806 (2005)
DOI:10.1086/497708
Reference
  Authors
Barraza-Garcia J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchon-Martinez A, Sentchordi-Montane L, Duncan EL, Clark GR, Del Pozo A, Ibanez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE
  Title
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.
  Journal
Clin Genet 92:91-98 (2017)
DOI:10.1111/cge.12964

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