KEGG DISEASE: Myosclerosis

DISEASE: Myosclerosis

Entry

H01338                      Disease

Name

Myosclerosis

Supergrp

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

Description

Myosclerosis is an autosomal recessive disorder caused by nonsense mutation of COL6A2. This disease is one of the collagen VI myopathies, characterized by difficulty in walking in early childhood, toe walking, and progressive contractures of calf muscles. In the early 30s the muscles are slender with a firm woody consistency and associated with contractures that restrict range of motion of many joints.

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
    8C72  Congenital myopathies
     H01338  Myosclerosis
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H01338  Myosclerosis

Pathway

hsa04151

PI3K-Akt signaling pathway

hsa04518

Integrin signaling

hsa04510

Focal adhesion

hsa04512

ECM-receptor interaction

Network

nt06548 Integrin signaling

Gene

COL6A2 [HSA:1292] [KO:K06238]

Other DBs

ICD-11:

8C72.0Y

MeSH:

C564968

OMIM:

255600

Reference

PMID:18852439

Authors

Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P

Title

Autosomal recessive myosclerosis myopathy is a collagen VI disorder.

Journal

Neurology 71:1245-53 (2008)
DOI:10.1212/01.wnl.0000327611.01687.5e

LinkDB

» Japanese version

DISEASE: Bethlem myopathy

Entry

H01340                      Disease

Name

Bethlem myopathy

Subgroup

Bethlem myopathy 2 [DS:H02247]

Supergrp

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

Description

Bethlem myopathy is one of the collagen VI myopathies, caused by mutation of COL6A. Bethlem myopathy is usually inherited in an autosomal dominant manner, but a rare autosomal recessive inheritance has recently been reported. This disease is characterized by a combination of proximal muscle weakness and contractures of finger, elbow, and ankle joints.

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
     H01340  Bethlem myopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H01340  Bethlem myopathy

Pathway

hsa04151

PI3K-Akt signaling pathway

hsa04518

Integrin signaling

hsa04510

Focal adhesion

hsa04512

ECM-receptor interaction

Network

nt06548 Integrin signaling

Gene

(BTHLM1A) COL6A1 [HSA:1291] [KO:K06238]
(BTHLM1B) COL6A2 [HSA:1292] [KO:K06238]
(BTHLM1C) COL6A3 [HSA:1293] [KO:K06238]

Other DBs

ICD-11:

8C70.6

MeSH:

C535436

OMIM:

158810 620725 620726

Reference

PMID:20301676

Authors

Lampe AK, Flanigan KM, Bushby KM, Hicks D

Title

Collagen Type VI-Related Disorders

Journal

GeneReviews (1993)

Reference

PMID:19949035

Authors

Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L

Title

Autosomal recessive Bethlem myopathy.

Journal

Neurology 73:1883-91 (2009)
DOI:10.1212/WNL.0b013e3181c3fd2a

Reference

PMID:8782832 (BTHLM1A BTHLM1B)

Authors

Jobsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA

Title

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

Journal

Nat Genet 14:113-5 (1996)
DOI:10.1038/ng0996-113

Reference

PMID:9536084 (BTHLM1C)

Authors

Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC

Title

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy.

Journal

Hum Mol Genet 7:807-12 (1998)
DOI:10.1093/hmg/7.5.807

LinkDB

» Japanese version

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.