Details of Disease

General Information of Disease (ID: DISKOIME)

Disease Name Polyglucosan body myopathy 1 with or without immunodeficiency
Synonyms polyglucosan body myopathy 1 with or without immunodeficiency; PGBM1; polyglucosan body myopathy, early-onset, with or without immunodeficiency; polyglucosan body myopathy type 1
Definition
A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.
Disease Hierarchy
DIS689Y8: Polyglucosan body myopathy
DISYGNOB: Disorder of glycogen metabolism
DISKOIME: Polyglucosan body myopathy 1 with or without immunodeficiency
Disease Identifiers
MONDO ID
MONDO_0014389
UMLS CUI
C4014605
OMIM ID
615895
MedGen ID
863042
Orphanet ID
397937
SNOMED CT ID
774148007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RBCK1 TTIKUVC Strong Autosomal recessive [1]
RBCK1 TTIKUVC Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RNF31 OT4BZONL Limited Biomarker [3]
RBCK1 OTOOXC7B Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 LUBAC, a novel ubiquitin ligase for linear ubiquitination, is crucial for inflammation and immune responses. Microbes Infect. 2012 Jul;14(7-8):563-72. doi: 10.1016/j.micinf.2012.01.011. Epub 2012 Jan 25.
2 Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19.
3 Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med. 2015 Jun 1;212(6):939-51. doi: 10.1084/jem.20141130. Epub 2015 May 25.