KEGG DISEASE: Ullrich disease

KEGG

DISEASE: Ullrich disease

Entry

H01778                      Disease

Name

Ullrich disease;
Ullrich congenital muscular dystrophy

Supergrp

Collagen VI myopathy [DS:H01341]
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]

Description

Ullrich disease or Ullrich congenital muscular dystrophy (UCMD) is a severe congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. Mutations in the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause Ullrich disease.

Category

Nervous system disease; Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C70  Muscular dystrophy
     H01778  Ullrich disease
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H01778  Ullrich disease

Pathway

PI3K-Akt signaling pathway

Integrin signaling

Focal adhesion

ECM-receptor interaction

Network

nt06548 Integrin signaling

Gene

(UCMD1A) COL6A1 [HSA:1291] [KO:K06238]
(UCMD1B) COL6A2 [HSA:1292] [KO:K06238]
(UCMD1C) COL6A3 [HSA:1293] [KO:K06238]
(UCMD2) COL12A1 [HSA:1303] [KO:K08132]

Comment

See also H01341 Collagen VI myopathy.

Other DBs

ICD-11:

MeSH:

OMIM:

254090 620727 620728 616470

Reference

Authors

Nalini A, Gayathri N, Santosh V

Title

Ullrich congenital muscular dystrophy: report of nine cases from India.

Journal

Neurol India 57:41-5 (2009)
DOI:10.4103/0028-3886.48820

Reference

PMID:12840783 (UCMD1A)

Authors

Pan TC, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML

Title

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Journal

Am J Hum Genet 73:355-69 (2003)
DOI:10.1086/377107

Reference

PMID:11381124 (UCMD1B)

Authors

Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G

Title

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI.

Journal

Proc Natl Acad Sci U S A 98:7516-21 (2001)
DOI:10.1073/pnas.121027598

Reference

PMID:11992252 (UCMD1C)

Authors

Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P

Title

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

Journal

Am J Hum Genet 70:1446-58 (2002)
DOI:10.1086/340608

Reference

PMID:24334604 (UCMD2)

Authors

Zou Y, Zwolanek D, Izu Y, Gandhy S, Schreiber G, Brockmann K, Devoto M, Tian Z, Hu Y, Veit G, Meier M, Stetefeld J, Hicks D, Straub V, Voermans NC, Birk DE, Barton ER, Koch M, Bonnemann CG

Title

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

Journal

Hum Mol Genet 23:2339-52 (2014)
DOI:10.1093/hmg/ddt627

LinkDB

» Japanese version

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