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Lethal polymalformative syndrome, Boissel type
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Lethal polymalformative syndrome, Boissel type
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

FTO
(UniProt - OMIM)
 LDHA
(UniProt - OMIM)

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


Citations in the biomedical literature:


Lethal polymalformative syndrome, Boissel type
FTO
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
LDHA



Lethal polymalformative syndrome, Boissel type
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Synonym(s):
(no synonyms)

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):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.