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Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Fibronectin glomerulopathy
2 OMIM references -
1 associated gene
10 signs/symptoms
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Fibronectin glomerulopathy

LDHA
(UniProt - OMIM)
 FN1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LDHA
(0.72)
FN1


Citations in the biomedical literature:


Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
LDHA
Fibronectin glomerulopathy
FN1



Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Fibronectin glomerulopathy

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
Synonym(s):
- GFND
- Glomerulopathy with fibronectin deposits
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
Fibronectin glomerulopathy

Very frequent
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Edema of the legs / lower limbs
- Functional anomalies of the kidney and the urinary tract
- Hematuria / microhematuria
- Nephrotic syndrome
- Proteinuria
- Renal failure
- Renal glomerular defect / glomerulopathy

Occasional
- Intracranial / cerebral / meningeal hemorrhage


Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

(no data available)