Glycogen storage disease due to lactate dehydrogenase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GSD due to lactate dehydrogenase deficiency
LDH deficiency
Glycogenosis due to lactate dehydrogenase deficiency
Number of Symptoms 13
OrphanetNr: 2364
OMIM Id: 612933
614128
ICD-10: E74.4
UMLs:
MeSH:
MedDRA:
Snomed: 237982007

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002913) Myoglobinuria 22 / 7739
2
 (HPO:0000083) Renal insufficiency 232 / 7739
3
 (HPO:0002063) Rigidity 92 / 7739
4
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
5
 (HPO:0003542) Increased serum pyruvate 18 / 7739
6
 (HPO:0002151) Increased serum lactate 92 / 7739
7
 (HPO:0003394) Muscle cramps 106 / 7739
8
 (HPO:0003326) Myalgia 143 / 7739
9
 (HPO:0003552) Muscle stiffness 23 / 7739
10
 (HPO:0003546) Exercise intolerance 62 / 7739
11
 (HPO:0003201) Rhabdomyolysis 27 / 7739
12
 (HPO:0003621) Juvenile onset 105 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: