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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
Retinopathy - anemia- central nervous system anomalies
1 OMIM reference -
1 associated gene
15 signs/symptoms
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Retinopathy - anemia- central nervous system anomalies

LDHA
(UniProt - OMIM)
 TINF2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
LDHA
(0.63)
TINF2


Citations in the biomedical literature:


Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
LDHA
Retinopathy - anemia- central nervous system anomalies
TINF2



Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Retinopathy - anemia- central nervous system anomalies

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):
- Revesz-DeBuse syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Retinopathy - anemia- central nervous system anomalies

Very frequent
- Anaemia
- Anomalies of tongue, gingiva and oral mucosa
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Fine hair
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intrauterine growth retardation
- Microcephaly
- Nails anomalies
- Platelets shape anomalies
- Polynuclear cells / neutrophils anomalies / neutropenia
- Prematurity
- Purpura / petichiae
- Retinal detachment
- Retinal vascular anomalies / retinal telangiectasia
- Thrombocytopenia / thrombopenia



Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

(no data available)