Cytoscape Web
Click node...

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
1 OMIM reference -
1 associated gene
31 connected diseases
No signs/symptoms info
Disease Type of connection
Charcot-Marie-Tooth disease type 4D
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Acromegaloid facial appearance syndrome
Familial atrial fibrillation
Familial isolated dilated cardiomyopathy
Hypertrichotic osteochondrodysplasia, Cantu type
Fibronectin glomerulopathy
Auriculocondylar syndrome
B-cell chronic lymphocytic leukemia
Cowden syndrome
Dyskeratosis congenita
Encephalopathy due to hydroxykynureninuria
Estrogen resistance syndrome
Hemolytic anemia due to glutathione reductase deficiency
Hoyeraal-Hreidarsson syndrome
Huntington disease
Hyperinsulinism due to HNF1A deficiency
Intellectual deficit, X-linked, Snyder type
Juvenile Huntington disease
LIG4 syndrome
Leigh syndrome with nephrotic syndrome
Lethal polymalformative syndrome, Boissel type
MODY syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Omenn syndrome
Phosphoenolpyruvate carboxykinase 1 deficiency
Proteus syndrome
Pseudohypoaldosteronism type 2E
Pyruvate dehydrogenase E3 deficiency
Retinopathy - anemia- central nervous system anomalies
Young adult-onset Parkinsonism
Synonym(s):
- GSD due to lactate dehydrogenase M-subunit deficiency
- GSD type 11
- Glycogen storage disease type 11
- Glycogenosis due to lactate dehydrogenase M-subunit deficiency
- Glycogenosis type 11
- LDH-M subunit deficiency
- Lactate dehydrogenase A deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LDHA P00338150000
No signs/symptoms info available.