POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615895
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
2
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
3
 (HPO:0002910) Elevated hepatic transaminases rare [HPO:skoehler] 158 / 7739
4
 (HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
5
 (HPO:0001508) Failure to thrive 454 / 7739
6
 (HPO:0001510) Growth delay 295 / 7739
7
 (HPO:0000964) Eczema rare [HPO:skoehler] 81 / 7739
8
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
9
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
10
 (HPO:0002716) Lymphadenopathy rare [HPO:skoehler] 129 / 7739
11
 (HPO:0002721) Immunodeficiency rare [HPO:skoehler] 97 / 7739
12
 (HPO:0002719) Recurrent infections rare [HPO:skoehler] 107 / 7739
13
 (HPO:0003701) Proximal muscle weakness 105 / 7739
14
 (HPO:0003326) Myalgia 143 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: