MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expand
amyotrophic lateral sclerosis (MONDO:0004976)
Parent Node:
expand
hereditary motor neuron disease (MONDO:0024257)
Parent Node:
expand
inherited neurodegenerative disorder (MONDO:0024237)
..Starting node
..expand
familial amyotrophic lateral sclerosis ()

       Child Nodes:
........expandamyotrophic lateral sclerosis type 1 ()
........expandamyotrophic lateral sclerosis type 11 ()
........expandamyotrophic lateral sclerosis type 12 ()
........expandamyotrophic lateral sclerosis type 15 ()
........expandamyotrophic lateral sclerosis type 17 ()
........expandamyotrophic lateral sclerosis type 18 ()
........expandamyotrophic lateral sclerosis type 19 ()
........expandamyotrophic lateral sclerosis type 20 ()
........expandamyotrophic lateral sclerosis type 4 ()
........expandamyotrophic lateral sclerosis, susceptibility to, 25 ()
........expandFTDALS ()
........expandjuvenile amyotrophic lateral sclerosis ()
........expandspinocerebellar ataxia type 2 ()



 Sister Nodes: 
..expandadult spinal muscular atrophy ()
..expandAlexander disease ()
..expandangioid streaks of choroid ()
..expandattenuated ChC)diak-Higashi syndrome ()
..expandautosomal dominant childhood-onset proximal spinal muscular atrophy without contractures ()
..expandautosomal recessive cerebral atrophy ()
..expandboylan dew greco syndrome ()
..expandCanavan disease ()
..expandChediak-Higashi syndrome ()
..expandCockayne syndrome ()
..expanddeafness dystonia syndrome ()  LSDB  L: 00113;
..expanddystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities ()
..expandearly-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome ()
..expandencephalopathy due to beta-mercaptolactate-cysteine disulfiduria ()
..expandfacial onset sensory and motor neuronopathy ()
..expandfamilial amyotrophic lateral sclerosis ()
..expandfamilial infantile bilateral striatal necrosis ()  LSDB  L: 00075;
..expandfatal post-viral neurodegenerative disorder ()
..expandferro-cerebro-cutaneous syndrome ()
..expandgenetic neurodegenerative disease with dementia ()
..expandGM2 gangliosidosis ()
..expandhereditary optic atrophy ()
..expandhereditary spastic paraplegia ()
..expandHuntington disease and related disorders ()
..expandhypotonia-speech impairment-severe cognitive delay syndrome ()
..expandinfantile cerebellar-retinal degeneration ()  LSDB  L: 00108;
..expandinfantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ()
..expandintermediate spinal muscular atrophy ()
..expandITPA-related encephalopathy ()
..expandjuvenile spinal muscular atrophy ()
..expandKrabbe disease ()
..expandlateral sclerosis ()
..expandleukoencephalopathy-metaphyseal chondrodysplasia syndrome ()
..expandmicrophthalmia-brain atrophy syndrome ()
..expandmitochondrial DNA depletion syndrome 4a ()  LSDB  L: 00032;
..expandmultiple mitochondrial dysfunctions syndrome 4 ()  LSDB  L: 00530;
..expandmultiple sclerosis, susceptibility to, 2 ()
..expandmultiple sclerosis, susceptibility to, 3 ()
..expandmultiple sclerosis, susceptibility to, 4 ()
..expandmuscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ()
..expandmyoclonic cerebellar dyssynergia ()
..expandneurodegenerative syndrome due to cerebral folate transport deficiency ()
..expandneuronal ceroid lipofuscinosis ()
..expandneuronal intranuclear inclusion disease ()
..expandneuronopathy, distal hereditary motor, type 2A ()
..expandneuronopathy, distal hereditary motor, type 7A ()
..expandParkinson disease 18, autosomal dominant, susceptibility to ()
..expandParkinson disease 5, autosomal dominant, susceptibility to ()
..expandPEHO syndrome ()
..expandPelizaeus-Merzbacher disease ()
..expandposterior cortical atrophy ()
..expandpsychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ()
..expandradiation sensitivity/chromosome instability syndrome, autosomal dominant ()
..expandrecurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome ()
..expandsevere neurodegenerative syndrome with lipodystrophy ()
..expandstriatonigral degeneration, childhood-onset ()
..expandtuberous sclerosis ()
..expandvitreoretinal degeneration ()
..expandX-linked adrenoleukodystrophy ()
..expandX-linked neurodegenerative syndrome, Bertini type ()
..expandX-linked neurodegenerative syndrome, Hamel type ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5144
Name:familial amyotrophic lateral sclerosis
Definition:An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:hereditary amyotrophic lateral sclerosis
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal