KEGG DISEASE: Multiple epiphyseal dysplasia

DISEASE: Multiple epiphyseal dysplasia

Entry

H00476                      Disease

Name

Multiple epiphyseal dysplasia

Description

Multiple epiphyseal dysplasia (EDM) is a genetically heterogeneous condition where ossification of epiphyses is delayed. Mutations causing EDM have been identified in COMP, DTDST, MATN3, COL9A1, COL9A2, and COL9A3. Mutations in the COL2A1 gene cause multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD).

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
    H00476  Multiple epiphyseal dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00476  Multiple epiphyseal dysplasia

Pathway

hsa04820

Cytoskeleton in muscle cells

hsa04510

Focal adhesion

hsa04151

PI3K-Akt signaling pathway

hsa04512

ECM-receptor interaction

Network

nt06539 Cytoskeleton in muscle cells

Gene

(EDM1) COMP [HSA:1311] [KO:K04659]
(EDM2) COL9A2 [HSA:1298] [KO:K08131]
(EDM3) COL9A3 [HSA:1299] [KO:K08131]
(EDM4) DTDST [HSA:1836] [KO:K14701]
(EDM5) MATN3 [HSA:4148] [KO:K19467]
(EDM6) COL9A1 [HSA:1297] [KO:K08131]
(EDM7) CANT1 [HSA:124583] [KO:K12304]
(EDMMD) COL2A1 [HSA:1280] [KO:K19719]

Other DBs

ICD-11:

LD24.61

MeSH:

C535501 C535502 C535503 C535504 C535505

OMIM:

132400 600204 600969 226900 607078 614135 132450 617719

Reference

PMID:18328978

Authors

Unger S, Bonafe L, Superti-Furga A

Title

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.

Journal

Best Pract Res Clin Rheumatol 22:19-32 (2008)
DOI:10.1016/j.berh.2007.11.009

Reference

PMID:11891674

Authors

Unger S, Hecht JT

Title

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.

Journal

Am J Med Genet 106:244-50 (2001)
DOI:10.1002/ajmg.10234

Reference

PMID:12768438 (COMP)

Authors

Song HR, Lee KS, Li QW, Koo SK, Jung SC

Title

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

Journal

J Hum Genet 48:222-225 (2003)
DOI:10.1007/s10038-003-0013-7

Reference

PMID:8528240 (COL9A2)

Authors

Muragaki Y, Mariman EC, van Beersum SE, Perala M, van Mourik JB, Warman ML, Olsen BR, Hamel BC

Title

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2).

Journal

Nat Genet 12:103-5 (1996)
DOI:10.1038/ng0196-103

Reference

PMID:10655510 (COL9A3)

Authors

Bonnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM

Title

A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.

Journal

Proc Natl Acad Sci U S A 97:1212-7 (2000)
DOI:10.1073/pnas.97.3.1212

Reference

PMID:12966518 (DTDST)

Authors

Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG

Title

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

Journal

Am J Med Genet A 122A:187-92 (2003)
DOI:10.1002/ajmg.a.20282

Reference

PMID:11479597 (MATN3)

Authors

Chapman KL, Mortier GR, Chapman K, Loughlin J, Grant ME, Briggs MD

Title

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

Journal

Nat Genet 28:393-6 (2001)
DOI:10.1038/ng573

Reference

PMID:11565064 (COL9A1)

Authors

Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perala M, Carter L, Spector TD, Kolodziej L, Seppanen U, Glazar R, Krolewski J, Latos-Bielenska A, Ala-Kokko L

Title

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.

Journal

Am J Hum Genet 69:969-80 (2001)
DOI:10.1086/324023

Reference

PMID:9800905 (COL2A1)

Authors

Ballo R, Beighton PH, Ramesar RS

Title

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

Journal

Am J Med Genet 80:6-11 (1998)
DOI:10.1002/(SICI)1096-8628(19981102)80:1<6::AID-AJMG2>3.0.CO;2-0

Reference

PMID:28742282 (CANT1)

Authors

Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH

Title

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Journal

Am J Med Genet A 173:2415-2421 (2017)
DOI:10.1002/ajmg.a.38349

LinkDB

» Japanese version

DISEASE: Stickler syndrome

Entry

H02072                      Disease

Name

Stickler syndrome

Subgroup

Autosomal dominant otospondylomegaepiphyseal dysplasia (OSMEDA)

Supergrp

Vitreoretinal degeneration [DS:H00805]

Description

Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal detachment and cataracts), arthropathy, deafness, cleft palate, micrognathia, and a characteristic flat face. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes can cause Stickler syndrome.