KEGG DISEASE: Metaphyseal dysplasias

DISEASE: Metaphyseal dysplasias

Entry

H00479                      Disease

Name

Metaphyseal dysplasias

Subgroup

Metaphyseal dysplasia, Schmid type
Metaphyseal dysplasia, McKusik type [DS:H01966]
Metaphyseal dysplasia, Jansen type (MCDJ)
Metaphyseal dysplasia, Pyle type (PYL)
Shwachman-Bodian-Diamond syndrome [DS:H00439]
Metaphyseal anadysplasia (MANDP)
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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H00479  Metaphyseal dysplasias

Pathway

hsa04310

Wnt signaling pathway

Network

nt06505 WNT signaling

Gene

(MCDS) COL10A1 [HSA:1300] [KO:K19479]
(CHH) RMRP [HSA:6023] [KO:K14576]
(MCDJ) PTH1R [HSA:5745] [KO:K04585]
(PYL) SFRP4 [HSA:6424] [KO:K02185]
(MANDP1) MMP13 [HSA:4322] [KO:K07994]
(MANDP2) MMP9 [HSA:4318] [KO:K01403]

Other DBs

ICD-11:

LD24.7

ICD-10:

Q78.5 Q78.8

MeSH:

C536252

OMIM:

156500 250250 156400 265900 602111 613073

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

Reference

PMID:9916842

Authors

Nishimura G, Ikegawa S, Saga T, Nagai T, Aya M, Kawano T

Title

Metaphyseal anadysplasia: evidence of genetic heterogeneity.

Journal

Am J Med Genet 82:43-8 (1999)
DOI:10.1002/(SICI)1096-8628(19990101)82:1<43::AID-AJMG9>3.0.CO;2-I

Reference

PMID:10901979

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

PMID:12357475

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:8220429 (MCDS)

Authors

Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA

Title

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

Journal

Nat Genet 5:79-82 (1993)
DOI:10.1038/ng0993-79

Reference

PMID:16832578 (CHH)

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

PMID:7701349 (MCDJ)

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

PMID:27355534 (PYL)

Authors

Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafe L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R

Title

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Journal

N Engl J Med 374:2553-2562 (2016)
DOI:10.1056/NEJMoa1509342

Reference

PMID:19615667 (MANDP1 MANDP2)

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

LinkDB

» Japanese version

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