KEGG   DISEASE: Cartilage-hair hypoplasia
Entry
H01966                      Disease                                

Name
Cartilage-hair hypoplasia;
Metaphyseal dysplasia, McKusik type
  Supergrp
Other well-defined immunodeficiency syndromes [DS:H00107]
Metaphyseal dysplasias [DS:H00479]
Description
Cartilage-hair hypoplasia (CHH), also called Metaphyseal dysplasia, McKusik type, is an inherited ribosomal syndrome characterized by short-limb dwarfism with metaphyseal dysplasia, fine, sparse hair, anemia, an increased incidence of cancer, and congenital immunodeficiency. Mutations in the RMRP gene that codes for an RNA subunit of the RNase MRP complex are the cause of CHH.
Category
Ribosomopathy
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Ribosomopathies
   H01966  Cartilage-hair hypoplasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H01966  Cartilage-hair hypoplasia
Pathway
hsa03008 Ribosome biogenesis in Eukaryotes   
Gene
RMRP [HSA:6023] [KO:K14576]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q78.8
MeSH: C535916 C563574
OMIM: 250250 250460
Reference
  Authors
Bailly-Botuha C, Jaubert F, Taam RA, Galmiche L, Picard C, Bellon G, de Blic J
  Title
Diffuse lymphoplasmacytic bronchiolitis in cartilage-hair hypoplasia.
  Journal
J Pediatr 152:429-33 (2008)
DOI:10.1016/j.jpeds.2007.10.010
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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