KEGG DISEASE: Congenital muscular dystrophies (CMD/MDC)

KEGG

DISEASE: Congenital muscular dystrophies (CMD/MDC)

Entry

H00590                      Disease

Name

Congenital muscular dystrophies (CMD/MDC)

Subgroup

Collagen VI related myopathies [DS:H01341]
Merosin-deficient CMD (MDC1A) [DS:H01958]
Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
Rigid spine syndrome (RSS) [DS:H01310]
Integrin alpha7-deficient CMD
LMNA-deficient CMD
CMD with hyperlaxity (CMDH)
CMD Davignon-Chauveau type (MDCDC)
CMD megaconial type (MDCMC)
CMD with cataracts and intellectual disability (MDCCAID)
CMD with rapid progression (MDRP)

Description

Congenital muscular dystrophies (CMDs) are a heterogeneous group of inherited disorders characterized by muscle weakness from birth and variable clinical manifestations of the eye and central nervous system. According to the disease mechanisms, the CMDs may be grouped as follows: defects in genes encoding for structural proteins of the basal membrane or extracellular matrix of the skeletal muscle fibers, which include collagen 6 genes, laminin alpha2 chain and integrin alpha7; defects in genes encoding for putative or demonstrated glycosyltransferases, which include POMT1, POMT2, POMGnT1, fukutin, fukutin-related protein (FKRP), Large, and ISPD; defects in ER and nuclear proteins, which are selenoprotein 1 and lamin A/C.

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
     H00590  Congenital muscular dystrophies (CMD/MDC)
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00590  Congenital muscular dystrophies (CMD/MDC)

Pathway

hsa04820 Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells

Gene

(ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583]
(LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641]
(MDCDC) TRIP4 [HSA:9325] [KO:K23398]
(MDCMC) CHKB [HSA:1120] [KO:K14156]
(MDCCAID) INPP5K [HSA:51763] [KO:K24222]
(MDRP) BET1 [HSA:10282] [KO:K08504]

Comment

Collagen VI related myopathies [DS:H01341] includes Ullrich CMD (UCMD).
Muscular dystrophy-dystroglycanopathy type A [DS:H00120] includes Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama CMD (FCMD).
Muscular dystrophy-dystroglycanopathy type B [DS:H01960] includes MDC1C and MDC1D.

Other DBs

ICD-11:

MeSH:

OMIM:

613204 613205 617066 602541 617404 254100

Reference

Authors

Muntoni F, Voit T

Title

The congenital muscular dystrophies in 2004: a century of exciting progress.

Journal

Neuromuscul Disord 14:635-49 (2004)
DOI:10.1016/j.nmd.2004.06.009

Reference

Authors

Sparks SE, Escolar DM

Title

Congenital muscular dystrophies.

Journal

Handb Clin Neurol 101:47-79 (2011)
DOI:10.1016/B978-0-08-045031-5.00004-9

Reference

Authors

Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bonnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC

Title

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.

Journal

Neurology 84:1369-78 (2015)
DOI:10.1212/WNL.0000000000001416

Reference

PMID:9590299 (ITGA7)

Authors

Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K

Title

Mutations in the integrin alpha7 gene cause congenital myopathy.

Journal

Nat Genet 19:94-7 (1998)
DOI:10.1038/ng0598-94

Reference

PMID:15622532 (LMNA)

Authors

Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bonnemann CG, Korinthenberg R

Title

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.

Journal

Ann Neurol 57:148-51 (2005)
DOI:10.1002/ana.20359

Reference

PMID:27008887 (TRIP4)

Authors

Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Faure J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A

Title

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.

Journal

Hum Mol Genet 25:1559-73 (2016)
DOI:10.1093/hmg/ddw033

Reference

PMID:21665002 (CHKB)

Authors

Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I

Title

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

Journal

Am J Hum Genet 88:845-851 (2011)
DOI:10.1016/j.ajhg.2011.05.010

Reference

PMID:28190456 (INPP5K)

Authors

Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bonnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araujo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Muller J, Kingston H, Muller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmuller H, Senderek J

Title

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Journal

Am J Hum Genet 100:523-536 (2017)
DOI:10.1016/j.ajhg.2017.01.024

Reference

PMID:34779586 (MDRP)

Authors

Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bonnemann CG, Schwake M

Title

BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.

Journal

EMBO Mol Med 13:e13787 (2021)
DOI:10.15252/emmm.202013787

LinkDB

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