Details of Disease

General Information of Disease (ID: DISFHHF0)

Disease Name Ullrich congenital muscular dystrophy 1A
Synonyms
Ullrich Scleroatonic muscular dystrophy; Ullrich disease; muscular dystrophy, Scleroatonic; UCMD1; Ullrich congenital muscular dystrophy; Ullrich congenital muscular dystrophy type 1; Ullrich congenital muscular dystrophy 1
Disease Hierarchy
DISJWD0V: Ullrich congenital muscular dystrophy
DISF4E3M: Collagen 6-related myopathy
DISFHHF0: Ullrich congenital muscular dystrophy 1A
Disease Identifiers
MONDO ID
MONDO_0009681
MESH ID
C537521
UMLS CUI
C0410179
OMIM ID
254090
MedGen ID
98046

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CSPG4 TT7MYXI moderate Biomarker [1]
COL6A3 TT5WCAH Strong Genetic Variation [2]
COL6A3 TT5WCAH Definitive Autosomal recessive [3]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL6A5 OTJT8O80 moderate Genetic Variation [4]
LAMA2 OTFROQWE moderate Biomarker [5]
SMCP OTXKY794 moderate Biomarker [1]
COL12A1 OTHLTV53 Strong GermlineCausalMutation [6]
COL6A1 OTYKSCOB Strong Autosomal dominant [7]
COL6A2 OTQC6PPO Definitive Autosomal dominant [8]
COL6A3 OTAS6R6I Definitive Autosomal recessive [3]
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⏷ Show the Full List of 7 DOT(s)

References

1 Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency.Mol Cell Neurosci. 2005 Nov;30(3):408-17. doi: 10.1016/j.mcn.2005.08.005.
2 Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.Gene. 2018 Sep 25;672:165-171. doi: 10.1016/j.gene.2018.06.026. Epub 2018 Jun 9.
3 Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet. 2002 Jun;70(6):1446-58. doi: 10.1086/340608. Epub 2002 Apr 24.
4 Expression of the collagen VI 5 and 6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.J Invest Dermatol. 2011 Jan;131(1):99-107. doi: 10.1038/jid.2010.284. Epub 2010 Sep 30.
5 Congenital muscular dystrophies.Handb Clin Neurol. 2013;113:1377-85. doi: 10.1016/B978-0-444-59565-2.00008-3.
6 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11.
7 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
8 Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. doi: 10.1093/hmg/ddi025. Epub 2004 Nov 24.