KEGG   DISEASE: Metaphyseal dysplasia without hypotrichosis
Entry
H00518                      Disease                                

Name
Metaphyseal dysplasia without hypotrichosis
  Supergrp
Metaphyseal dysplasias [DS:H00479]
Description
Metaphyseal dysplasia without hypotrichosis (MDWH) is a skeletal dysplasia, caused by mutations in the RMRP gene. RMRP codes for an RNA subunit of the MRP RNAse complex. Patients have short stature and radiographic changes similar to those of cartilage-hair hypoplasia (CHH), but have normal hair and no immunodeficiency.
Category
Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H00518  Metaphyseal dysplasia without hypotrichosis
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
    H00518  Metaphyseal dysplasia without hypotrichosis
Pathway
hsa03008 Ribosome biogenesis in Eukaryotes   
Gene
RMRP [HSA:6023] [KO:K14576]
Other DBs
ICD-11: LD24.7
ICD-10: Q78.8
MeSH: C563574
OMIM: 250460
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
Reference
  Authors
Bonafe L, Schmitt K, Eich G, Giedion A, Superti-Furga A
  Title
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
  Journal
Clin Genet 61:146-51 (2002)
DOI:10.1034/j.1399-0004.2002.610210.x

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