Polyglucosan body myopathy 1 with or without immunodeficiency

Preferred Label : Polyglucosan body myopathy 1 with or without immunodeficiency;

Symbol : PGBM1;

CISMeF acronym : PBMEI; PGBM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polyglucosan body myopathy, early-onset, with or without immunodeficiency; PBMEI;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RANBP-type and C3HC4-type zinc finger-containing 1 gene (RBCK1, 610924.0001);

Laboratory abnormalities : Increased serum creatine kinase; Abnormal liver enzymes (in some patients);

Prefixed ID : #615895;

Details

Origin ID

615895;

UMLS CUI

C4014605;

Automatic exact mappings (from CISMeF team)
- RBCK1 wt Allele [NCIt concept]
CISMeF manual mappings
- Polyglucosan body myopathy type 1 [ORDO Disease]
Currated CISMeF NLP mapping
- Polyglucosan body myopathy type 1 (disorder) [SNOMED CT concept]
Genes related to phenotype
- Ranbp-type and c3hc4-type zinc finger-containing 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Eczema [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Immunodeficiency [HPO term]
- Lymphadenopathy [HPO term]
- Myalgia [HPO term]
- Progressive [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Recurrent infections [HPO term]
- Scoliosis [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis [ORDO Disease]
- Polyglucosan body myopathy type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Polyglucosan body myopathy type 1 [ORDO Disease]
- Polyglucosan body myopathy type 1 (disorder) [SNOMED CT concept]

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