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Genetic recurrent myoglobinuria
2 OMIM references -
3 associated genes
18 connected diseases
No signs/symptoms info
Disease Type of connection
Isolated cytochrome C oxidase deficiency
MELAS syndrome
Maternally-inherited Leigh syndrome
Leber hereditary optic neuropathy
Mitochondrial nonsyndromic sensorineural deafness
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
LIG4 syndrome
Omenn syndrome
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Autosomal recessive primary microcephaly
Huntington disease
Juvenile Huntington disease
Citrullinemia type II
Isolated NADH-CoQ reductase deficiency
Neonatal intrahepatic cholestasis due to citrin deficiency
Autosomal dominant spastic paraplegia type 13
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
LPIN1 Q14693605518
MT-CO1 P00395516030
MT-CO3 P00414516050
No signs/symptoms info available.