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 lipidosis with dementia (MONDO:0020143)
Parent Node: neuronal ceroid lipofuscinosis (MONDO:0016295)
Parent Node: progressive myoclonic epilepsy (MONDO:0020074)
..Starting node ..adult neuronal ceroid lipofuscinosis ()
Child Nodes:
........neuronal ceroid lipofuscinosis 1 ()
........neuronal ceroid lipofuscinosis 10 ()
........neuronal ceroid lipofuscinosis 11 ()
........neuronal ceroid lipofuscinosis 13 ()
........neuronal ceroid lipofuscinosis 4A ()
........neuronal ceroid lipofuscinosis 4B ()
Sister Nodes:
..action myoclonus-renal failure syndrome ()
..adult neuronal ceroid lipofuscinosis ()
..early-onset Lafora body disease ()
..epilepsy, progressive myoclonic, 1B ()
..familial encephalopathy with neuroserpin inclusion bodies ()
..infantile neuronal ceroid lipofuscinosis ()
..juvenile neuronal ceroid lipofuscinosis ()
..Lafora disease ()
..late infantile neuronal ceroid lipofuscinosis ()
..MERRF syndrome () L: 00162;
..progressive myoclonic epilepsy type 3 ()
..progressive myoclonic epilepsy type 5 ()
..progressive myoclonic epilepsy type 6 ()
..progressive myoclonic epilepsy type 7 ()
..progressive myoclonic epilepsy type 8 ()
..progressive myoclonic epilepsy type 9 ()
..Unverricht-Lundborg syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19260
Name:	adult neuronal ceroid lipofuscinosis
Definition:	adult neuronal ceroid lipofuscinoses (ANCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	adult NCL; ANCL; CLN4 disease, adult autosomal dominant; Kuf's disease; Kufs disease; neuronal ceroid lipofuscinosis 4; neuronal ceroid lipofuscinosis of adults
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal