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Fumaric aciduria
1 OMIM reference -
1 associated gene
22 connected diseases
No signs/symptoms info
Disease Type of connection
Familial leiomyomatosis
Leber congenital amaurosis
Senior-Loken syndrome
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
17p13.3 microduplication syndrome
AICA-ribosiduria
Dedifferentiated liposarcoma
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Lissencephaly due to LIS1 mutation
Methylcobalamin deficiency type cblE
Miller-Dieker syndrome
Sandhoff disease, adult form
Sandhoff disease, infantile form
Sandhoff disease, juvenile form
Subcortical band heterotopia
Well-differentiated liposarcoma
X-linked distal arthrogryposis multiplex congenita
Carbamoylphosphate synthetase deficiency
Glycogen storage disease due to phosphoglucomutase deficiency
Hereditary coproporphyria
PGM-CDG
Phosphoserine aminotransferase deficiency
Synonym(s):
- Fumarase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
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: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C538191
Gene symbol UniProt reference OMIM reference
FH P07954136850
No signs/symptoms info available.