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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Auriculocondylar syndrome

LDHA EDN1
GNAI3
PLCB4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LDHA
(0.63)
GNAI3



Citations in the biomedical literature:


Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
LDHA
Auriculocondylar syndrome
EDN1 GNAI3 PLCB4



Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Auriculocondylar syndrome

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):
- Question mark ear syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: C538270

No signs/symptoms info available.