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Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
1 OMIM reference -
1 associated gene
22 connected diseases
No signs/symptoms info
Disease Type of connection
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Young adult-onset Parkinsonism
Fibronectin glomerulopathy
Herpetic encephalitis
17q11 microdeletion syndrome
Auriculocondylar syndrome
Autosomal dominant nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
Cabezas syndrome
Craniopharyngioma
Desmoid tumor
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Hepatocellular carcinoma, childhood-onset
Huntington disease
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Juvenile Huntington disease
LIG4 syndrome
Lethal polymalformative syndrome, Boissel type
Omenn syndrome
Pilomatrixoma
Pseudohypoaldosteronism type 2E
Pyridoxine-dependent epilepsy
Synonym(s):
- GSD due to lactate dehydrogenase H-subunit deficiency
- Glycogenosis due to lactate dehydrogenase H-subunit deficiency
- LDH-H subunit deficiency
- Lactate dehydrogenase B deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
LDHB P07195150100
No signs/symptoms info available.