MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: autosomal dominant optic atrophy (MONDO:0020250)
Parent Node: mitochondrial oxidative phosphorylation disorder with no known mechanism (MONDO:0016799)
..Starting node ..autosomal dominant optic atrophy and peripheral neuropathy ()
Child Nodes:
Sister Nodes:
..autosomal dominant mitochondrial myopathy with exercise intolerance () L: 00509;
..autosomal dominant optic atrophy and peripheral neuropathy ()
..autosomal dominant optic atrophy, classic form () L: 00073;
..autosomal recessive optic atrophy, OPA7 type ()
..encephalopathy due to defective mitochondrial and peroxisomal fission ()
..FASTKD2-related infantile mitochondrial encephalomyopathy ()
..growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome () L: 00514;
..non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy ()
..optic atrophy 3 ()
..Zellweger-like syndrome without peroxisomal anomalies ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16646
Name:	autosomal dominant optic atrophy and peripheral neuropathy
Definition:	Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA, see this term), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal