MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: cerebral organic aciduria (MONDO:0019213)
Parent Node: inherited lipoic acid biosynthesis defect (MONDO:0018424)
Parent Node: mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes (MONDO:0017718)
Parent Node: phosphorus metabolism disease (MONDO:0002319)
..Starting node ..fatal multiple mitochondrial dysfunctions syndrome ()
Child Nodes:
........multiple mitochondrial dysfunctions syndrome 1 () L: 00043;
........multiple mitochondrial dysfunctions syndrome 2 () L: 00044;
........multiple mitochondrial dysfunctions syndrome 3 () L: 00013;
........multiple mitochondrial dysfunctions syndrome 4 () L: 00530;
........multiple mitochondrial dysfunctions syndrome 5 () L: 00531;
........multiple mitochondrial dysfunctions syndrome 6 () L: 00568;
Sister Nodes:
..fatal multiple mitochondrial dysfunctions syndrome ()
..hyperphosphatemia (disease) ()
..hypophosphatemia (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17338
Name:	fatal multiple mitochondrial dysfunctions syndrome
Definition:	Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual.
Alternative IDs:
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Synonyms:	fatal multiple mitochondrial dysfunction syndrome; MMDS; multiple mitochondrial dysfunctions syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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