POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (PGBM1)

Question 1

What is  POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (PGBM1)?

Accepted Answer

very rare

autosomal recessive

mutation in the RBCK1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615895

Question 3

Which enzymes are involved?

Accepted Answer

RanBP-type and C3HC4-type zinc finger-containing protein 1

Disease	POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (PGBM1)
Synonym	POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY; PBMEI ;RBCK1
OMIM	615895 OMIM = Online Mendelian Inheritance of Men
Orphanet	329173
Protein (UniProt)	RanBP-type and C3HC4-type zinc finger-containing protein 1
Gene locus	20q13
ICD
Summary	very rare autosomal recessive mutation in the RBCK1 gene
Laboratory findings	Creatine kinase inc (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	cardiomyopathy cardiomyopathy, dilated failure to thrive growth retardation, poor growth hepatomegaly (large liver) immunodeficiency infections (severe or recurrent) MRI, muscle, abnormalities [-] onset, infancy onset, neonatal pain, muscle ptosis (drooping eyelid) scoliosis skin rash, eczematous or seborrhoic