Details of Disease

General Information of Disease (ID: DISW3KEU)

• Disease Name: Congenital merosin-deficient muscular dystrophy 1A
• Synonyms: laminin alpha-2 deficiency; muscular dystrophy, congenital merosin-deficient; muscular dystrophy, congenital merosin-deficient, 1A; muscular dystrophy, congenital, due to partial LAMA2 deficiency; merosin-deficient congenital muscular dystrophy; muscular dystrophy, congenital, merosin-deficient; congenital muscular dystrophy type 1A; LAMA2-related muscular dystrophy; merosin-deficient congenital muscular dystrophy type 1A; muscular dystrophy, congenital merosin-deficient, type 1A; congenital muscular dystrophy caused by mutation in LAMA2; merosin-negative congenital muscular dystrophy; LAMA2 congenital muscular dystrophy; CMD1A; congenital merosin-deficient muscular dystrophy type 1A; MDC1A; congenital muscular dystrophy due to laminin alpha2 deficiency; muscular dystrophy, congenital, merosin deficient or partially deficient
• Definition: Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.
• Disease Hierarchy:
  DIS99VM0: LAMA2-related muscular dystrophy
  DISKY7OY: Congenital muscular dystrophy
  DISW3KEU: Congenital merosin-deficient muscular dystrophy 1A
• Disease Identifiers:
  MONDO ID: MONDO_0011925
  MESH ID: C537384
  UMLS CUI: C1263858
  OMIM ID: 607855
  MedGen ID: 224728
  Orphanet ID: 258
  SNOMED CT ID: 111503008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSPG4	TT7MYXI	Strong	Altered Expression	[1]
DYSF	TTA7MXQ	Strong	Biomarker	[2]
SGCG	TTSMT9W	Strong	Genetic Variation	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITGA7	OTTBTAYW	Definitive	Autosomal recessive	[3]
LAMA2	OTFROQWE	Definitive	Autosomal recessive	[4]

References

• [1] Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies.Mol Cell Neurosci. 2003 Jun;23(2):219-31. doi: 10.1016/s1044-7431(03)00033-2.
• [2] Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion.Methods Mol Biol. 2018;1828:79-90. doi: 10.1007/978-1-4939-8651-4_5.
• [3] Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet. 1998 May;19(1):94-7. doi: 10.1038/ng0598-94.
• [4] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.