Details of Disease

General Information of Disease (ID: DISHZE8T)

Disease Name Rigid spine muscular dystrophy 1
Synonyms
SEPN1-related myopathy; classic multiminicore disease; classic multiminicore myopathy; classic MmD; rigid spine syndrome; myopathy, SEPN1-related; multicore myopathy, severe classic form; multiminicore disease, severe classic form; muscular dystrophy, congenital, merosin-positive, with early spine rigidity; Eichsfeld type congenital muscular dystrophy; rigid spine muscular dystrophy 1; MDRS1; minicore myopathy, severe classic form; severe classic form minicore myopathy; RSMD1; RSS; severe classic form multiminicore disease; muscular dystrophy, congenital, Eichsfeld type; rigid spine muscular dystrophy type 1; severe classic form multicore myopathy; SELENON rigid spine syndrome; muscular dystrophy, rigid spine, 1; rigid spine syndrome caused by mutation in SELENON; desmin-related myopathy with Mallory bodies; congenital merosin-positive muscular dystrophy with early spine rigidity
Definition
An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.
Disease Hierarchy
DISE6VYN: Multiminicore myopathy
DISA1BDS: Rigid spine syndrome
DISKAULK: SELENON-related myopathy
DISHZE8T: Rigid spine muscular dystrophy 1
Disease Identifiers
MONDO ID
MONDO_0011271
MESH ID
C535683
UMLS CUI
C0410180
OMIM ID
602771
MedGen ID
98047
SNOMED CT ID
240063002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FHL1 TTI7ENL Strong Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACTA1 OTOVGLPG Strong GermlineCausalMutation [2]
CCDC22 OT1A1ZXH Strong Genetic Variation [3]
FKTN OTQ9GCXL Strong Biomarker [4]
SELENON OTSGKO5M Definitive Biomarker [5]
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References

1 Fhl1 W122S causes loss of protein function and late-onset mild myopathy.Hum Mol Genet. 2015 Feb 1;24(3):714-26. doi: 10.1093/hmg/ddu490. Epub 2014 Sep 30.
2 Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet. 2015 Jun;23(6):883-6. doi: 10.1038/ejhg.2014.169. Epub 2014 Sep 3.
3 Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur J Hum Genet. 2015 May;23(5):633-8. doi: 10.1038/ejhg.2014.109. Epub 2014 Jun 11.
4 A new mutation of the fukutin gene causing late-onset limb girdle muscular dystrophy.Neuromuscul Disord. 2013 Jul;23(7):562-7. doi: 10.1016/j.nmd.2013.04.006. Epub 2013 Jun 6.
5 SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance.Redox Biol. 2019 Jun;24:101176. doi: 10.1016/j.redox.2019.101176. Epub 2019 Mar 23.