MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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expandeye degenerative disease (MONDO:0004884)
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expandinherited neurodegenerative disorder (MONDO:0024237)
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expandlysosomal disease with epilepsy (MONDO:0016397)
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expandlysosomal lipid storage disorder (MONDO:0019245)
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expandunclassified primitive or secondary maculopathy (MONDO:0020244)
..Starting node
..expandneuronal ceroid lipofuscinosis ()

       Child Nodes:
........expandadult neuronal ceroid lipofuscinosis ()
........expandinfantile neuronal ceroid lipofuscinosis ()
........expandjuvenile neuronal ceroid lipofuscinosis ()
........expandlate infantile neuronal ceroid lipofuscinosis ()
........expandparkinsonism due to ATP13A2 deficiency ()
........expandprogressive myoclonic epilepsy type 3 ()



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..expandautosomal dominant osteopetrosis 2 ()
..expandBardet-Biedl syndrome ()
..expandcone-rod dystrophy ()
..expandcongenital hypotrichosis with juvenile macular dystrophy ()
..expandcystoid macular edema ()
..expandenhanced S-cone syndrome ()
..expandFarber lipogranulomatosis ()
..expandfoveal hypoplasia-presenile cataract syndrome ()
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..expandGM1 gangliosidosis ()
..expandHermansky-Pudlak syndrome 2 ()
..expandinfantile Refsum disease ()
..expandKrabbe disease ()
..expandLaurence-Moon syndrome ()
..expandLeigh disease ()
..expandmetachromatic leukodystrophy ()
..expandmucolipidosis type IV ()
..expandneuronal ceroid lipofuscinosis ()
..expandNiemann-Pick disease type C ()
..expandRubinstein-Taybi syndrome ()
..expandSjogren-Larsson syndrome ()
..expandSorsby's fundus dystrophy ()
..expandX-linked retinoschisis ()
..expandZellweger syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16295
Name:neuronal ceroid lipofuscinosis
Definition:Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
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Synonyms:ceroid lipofuscinoses; hereditary ceroid lipofuscinosis; NCL
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Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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