KEGG   DISEASE: Metaphyseal dysplasiasHelp
Entry
H00479                      Disease                                

Name
Metaphyseal dysplasias
  Subgroup
Metaphyseal dysplasia, Schmid type
Metaphyseal dysplasia, McKusik type [DS:H01966]
Metaphyseal dysplasia, Jansen type
Shwachman-Bodian-Diamond syndrome [DS:H00439]
Metaphyseal anadysplasia (MAD)
Metaphyseal dysplasia without hypotrichosis [DS:H00518]
Description
Metaphyseal dysplasias are very rare skeletal disorders with short limb/short stature phenotypes. Defects in metaphyseal development leads to enlarged metaphyses of long bones that tend to fracture in these diseases.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00479  Metaphyseal dysplasias
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
    H00479  Metaphyseal dysplasias
BRITE hierarchy
Gene
(Schmid) COL10A1 [HSA:1300] [KO:K19479]
(McKusik) RMRP [HSA:6023] [KO:K14576]
(Jansen) PTHR1 [HSA:5745] [KO:K04585]
(SBDS) SBDS [HSA:51119] [KO:K14574]
(MAD) MMP9 [HSA:4318] [KO:K01403]
(MAD) MMP13 [HSA:4322] [KO:K07994]
Other DBs
ICD-11: LD24.7
ICD-10: Q78.5 Q78.8 D61.0
MeSH: C536252
OMIM: 156500 250250 156400 260400 602111 613073
Reference
  Authors
Zhu Y, Li L, Zhou L, Mei H, Jin K, Liu K, Xu W, Tang J, Yang Y, Zhao R, He X
  Title
A novel mutation leading to elongation of the deduced alpha1(X) chain results in Metaphyseal Chondrodysplasia type Schmid.
  Journal
Clin Chim Acta 412:1266-9 (2011)
DOI:10.1016/j.cca.2011.03.026
Reference
  Authors
Matsui Y, Yasui N, Kawabata H, Ozono K, Nakata K, Mizushima T, Tsumaki N, Kataoka E, Fujita Y, Ochi T
  Title
A novel type X collagen gene mutation (G595R) associated with Schmid-type metaphyseal chondrodysplasia.
  Journal
J Hum Genet 45:105-8 (2000)
DOI:10.1007/s100380050024
Reference
PMID:8579897
  Authors
Olsen BR
  Title
Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias.
  Journal
Bone 17:45S-49S (1995)
DOI:10.1016/8756-3282(95)00208-U
Reference
  Authors
Hirose Y, Nakashima E, Ohashi H, Mochizuki H, Bando Y, Ogata T, Adachi M, Toba E, Nishimura G, Ikegawa S
  Title
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia.
  Journal
J Hum Genet 51:706-10 (2006)
DOI:10.1007/s10038-006-0015-3
Reference
  Authors
Kozlowski K, Campbell JB, Azouz ME, Sprague P
  Title
Metaphyseal chondrodysplasia, type Jansen.
  Journal
Australas Radiol 43:544-7 (1999)
DOI:10.1046/j.1440-1673.1999.00729.x
Reference
  Authors
Cohen MM Jr
  Title
Some chondrodysplasias with short limbs: molecular perspectives.
  Journal
Am J Med Genet 112:304-13 (2002)
DOI:10.1002/ajmg.10780
Reference
PMID:7701349
  Authors
Schipani E, Kruse K, Juppner H
  Title
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
  Journal
Science 268:98-100 (1995)
DOI:10.1126/science.7701349
Reference
  Authors
Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S
  Title
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
  Journal
J Med Genet 44:e73 (2007)
DOI:10.1136/jmg.2006.043869
Reference
PMID:9916842
  Authors
Nishimura G, Ikegawa S, Saga T, Nagai T, Aya M, Kawano T
  Title
Metaphyseal anadysplasia: evidence of genetic heterogeneity.
  Journal
Reference
  Authors
Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B
  Title
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
  Journal
Am J Hum Genet 85:168-78 (2009)
DOI:10.1016/j.ajhg.2009.06.014
Reference
PMID:1867263
  Authors
Maroteaux P, Verloes A, Stanescu V, Stanescu R
  Title
Metaphyseal anadysplasia: a metaphyseal dysplasia of early onset with radiological regression and benign course.
  Journal
Am J Med Genet 39:4-10 (1991)
DOI:10.1002/ajmg.1320390103

» Japanese version

DBGET integrated database retrieval system