Polyglucosan body myopathy 1 with immunodeficiency

MedGen UID:: 865668
•Concept ID:: C4017231
•: Finding

Synonym:	POLYGLUCOSAN BODY MYOPATHY 1 WITH IMMUNODEFICIENCY

OMIM®:	610924

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPolyglucosan body myopathy
- CROGVPolyglucosan body myopathy type 1
  - CROGVPolyglucosan body myopathy 1 with immunodeficiency
  - CROGVPolyglucosan body myopathy 1 without immunodeficiency
- CROGVPolyglucosan body myopathy type 2

Non-Neoplastic Disorder by Special Category
- Metabolic disease
  - Carbohydrate metabolism disease
    - Inborn carbohydrate metabolic disorder
      - Glycogen storage disease
        Polyglucosan body myopathy type 1
        Polyglucosan body myopathy 1 with immunodeficiency

Recent clinical studies

Diagnosis

Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China.

Chen L, Wang N, Hu W, Yu X, Yang R, Han Y, Yan Y, Nian N, Sha C
BMC Musculoskelet Disord 2021 Jan 7;22(1):35. doi: 10.1186/s12891-020-03884-0. PMID: 33413275 Free PMC Article

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Prognosis

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.

MozafaryBazargany M, Esmaeili S, Hesami M, Houshmand G, Mahdavi M, Maleki M, Kalayinia S
ESC Heart Fail 2024 Jun;11(3):1472-1482. Epub 2024 Feb 8 doi: 10.1002/ehf2.14702. PMID: 38329383 Free PMC Article

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F
J Neurol 2018 Feb;265(2):394-401. Epub 2017 Dec 19 doi: 10.1007/s00415-017-8710-x. PMID: 29260357 Free PMC Article

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Clinical prediction guides

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.

See all (1)

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Polyglucosan body myopathy 1 with immunodeficiency

Term Hierarchy

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

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