Details of Disease

General Information of Disease (ID: DISZFHZ9)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2R1
• Synonyms: muscular dystrophy, limb-girdle, autosomal recessive 21; muscular dystrophy, limb-girdle, type 2Z; LGMD2Z; limb-girdle muscular dystrophy type 2Z; POGLUT1 autosomal recessive limb-girdle muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1; autosomal recessive limb-girdle muscular dystrophy type 2Z
• Definition: An autosomal recessive condition caused by pathogenic variant(s) of the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking. A characteristic finding of inside-to-outside?fatty degeneration on muscle imaging has been noted in patients.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISI1EG0: Disorder of protein O-glycosylation
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISZFHZ9: Autosomal recessive limb-girdle muscular dystrophy type 2R1
• Disease Identifiers:
  MONDO ID: MONDO_0014977
  UMLS CUI: C4310660
  OMIM ID: 617232
  MedGen ID: 934627
  Orphanet ID: 480682
  SNOMED CT ID: 1172703004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POGLUT1	OTDX7GZD	Strong	Autosomal recessive	[1]

References

• [1] POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, -dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathol. 2020 Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3.