Polyglucosan body myopathy type 1

General Information (adopted from Orphanet):

Synonyms, Signs: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
PGBM1
Number of Symptoms 20
OrphanetNr:
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
Age of onset: Childhood
Adolescent

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
 (HPO:0002910) Elevated hepatic transaminases 158 / 7739
2
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
3
 (HPO:0002716) Lymphadenopathy 129 / 7739
4
 (HPO:0010975) Abnormality of B cell number 1 / 7739
5
 (HPO:0003261) Increased IgA level 12 / 7739
6
 (HPO:0012649) Increased inflammatory response 2 / 7739
7
 (HPO:0002719) Recurrent infections 107 / 7739
8
 (HPO:0002721) Immunodeficiency 97 / 7739
9
 (OMIM) Lack of independent ambulation 6 / 7739
10
 (HPO:0003326) Myalgia 143 / 7739
11
 (HPO:0003701) Proximal muscle weakness 105 / 7739
12
 (HPO:0000964) Eczema 81 / 7739
13
 (HPO:0002650) Scoliosis 705 / 7739
14
 (HPO:0002240) Hepatomegaly 467 / 7739
15
 (OMIM) Polyglucosan bodies in perikarya, cortex and cerebellum 2 / 7739
16
 (MedDRA:10053240) Glycogen storage disease type VI 1 / 7739
17
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
18
 (HPO:0000508) Ptosis 459 / 7739
19
 (HPO:0001510) Growth delay 295 / 7739
20
 (HPO:0001508) Failure to thrive 454 / 7739

Associated genes:

RBCK1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: