KEGG   DISEASE: RMRP related disordersHelp
Entry
H00518                      Disease                                

Name
RMRP related disorders, including:
Anauxetic dysplasia (AD);
Cartilage-hair hypoplasia (CHH);
Metaphyseal dysplasia without hypotrichosis (MDWH)
Description
RNase MRP RNA is the RNA subunit of the RNase mitochondrial RNA processing (MRP) enzyme complex. In addition to its mitochondrial function, mutations on RNase MRP RNA gene (RMRP) cause a recessively inherited developmental disorder, cartilage-hair hypoplasia (CHH). CHH is a skeletal dysplasia inherited as an autosomal recessive trait. Beyond CHH, RNase MRP RNA mutations have been implicated in a variety of other inherited skeletal dysplasias, including anauxetic dysplasia (AD) and metaphyseal dysplasia without hypotrichosis (MDWH).
Category
Congenital disorder of development; Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H00518  RMRP related disorders
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q65-Q79  Congenital malformations and deformations of the musculoskeletal system
   Q78  Other osteochondrodysplasias
    H00518  RMRP related disorders
BRITE hierarchy
Pathway
hsa03008 Ribosome biogenesis in Eukaryotes  
 
Gene
RMRP [HSA:6023] [KO:K14576]
Other DBs
Reference
  Authors
Martin AN, Li Y
  Title
RNase MRP RNA and human genetic diseases.
  Journal
Cell Res 17:219-26 (2007)
DOI:10.1038/sj.cr.7310120

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