Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D009472 http://purl.bioontology.org/ontology/MESH/D009472
Preferred Name	Neuronal Ceroid-Lipofuscinoses
Definitions	This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins. This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease. This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin). A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
Synonyms	Lipofuscin Storage Diseases Juvenile Batten Disease Ceroid Storage Diseases Disease, Spielmeyer-Sjogren Kufs Disease, Autosomal Dominant CLN3-Related Neuronal Ceroid-Lipofuscinosis Juvenile Batten Diseases Ceroid-Lipofuscinosis, Neuronal Disease, Vogt-Spielmeyer Disease, Kuf's Neuronal Ceroid Lipofuscinosis Kufs Disease, Autosomal Recessive Storage Disease, Lipofuscin Jansky Bielschowsky Disease Cerebroretinal Degenerations, Juvenile Juvenile Cerebroretinal Degenerations Disease, Ceroid Storage Ceroid Storage Disease Kufs Disease Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Type Adult Neuronal Ceroid Lipofuscinosis Amaurotic Idiocy, Adult Type CLN3 Related Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, Parry Type CLN3-Related Neuronal Ceroid-Lipofuscinoses Disease, Vogt Spielmeyer Spielmeyer Vogt Disease Cerebroretinal Degeneration, Juvenile Neuronal Ceroid Lipofuscinosis, Infantile Spielmeyer Sjogren Disease CLN4A Ceroid Lipofuscinosis, Neuronal 4 Santavuori Haltia Disease Neuronal Ceroid-Lipofuscinosis CLN4B Neuronal Ceroid Lipofuscinoses Neuronal Ceroid Lipofuscinosis, Late-Infantile Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive Batten Mayou Disease Batten Diseases, Juvenile Neuronal Ceroid Lipofuscinosis, Juvenile Late-Infantile Neuronal Ceroid Lipofuscinosis Storage Disease, Ceroid Santavuori-Haltia Disease Neuronal Ceroid Lipofuscinosis Juvenile Type Batten Disease, Juvenile Disease, Lipofuscin Storage Kuf's Disease Neuronal Ceroid Lipofuscinosis, Late Infantile Jansky-Bielschowsky Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Juvenile Neuronal Ceroid Lipofuscinosis Kufs Type Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Vogt Spielmeyer Disease Ceroid Lipofuscinosis, Neuronal Spielmeyer Disease, Vogt Batten Disease Vogt-Spielmeyer Disease Disease, Juvenile Batten Kuf Disease Lipofuscinosis, Neuronal Ceroid Neuronal Ceroid-Lipofuscinosis, CLN3-Related Spielmeyer-Sjogren Disease Batten Spielmeyer Vogt Disease Spielmeyer-Vogt Disease Neuronal Ceroid-Lipofuscinoses, CLN3-Related CLN4As Lipofuscin Storage Disease Ceroid-Lipofuscinosis, CLN3-Related Neuronal Ceroid Lipofuscinosis, Neuronal, 3 Juvenile Cerebroretinal Degeneration Ceroid Lipofuscinosis, Neuronal 3, Juvenile Kufs Disease Autosomal Recessive See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	This type is caused by mutation in the gene (CLN1or PPT1) encoding palmitoyl-protein thioesterase (THIOLESTER HYDROLASES), an enzyme involved in catabolism of lipid-modified proteins. This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease. This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin). A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.
altLabel	Lipofuscin Storage Diseases Juvenile Batten Disease Ceroid Storage Diseases Disease, Spielmeyer-Sjogren Kufs Disease, Autosomal Dominant CLN3-Related Neuronal Ceroid-Lipofuscinosis Juvenile Batten Diseases Ceroid-Lipofuscinosis, Neuronal Disease, Vogt-Spielmeyer Disease, Kuf's Neuronal Ceroid Lipofuscinosis Kufs Disease, Autosomal Recessive Storage Disease, Lipofuscin Jansky Bielschowsky Disease Cerebroretinal Degenerations, Juvenile Juvenile Cerebroretinal Degenerations Disease, Ceroid Storage Ceroid Storage Disease Kufs Disease Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Type Adult Neuronal Ceroid Lipofuscinosis Amaurotic Idiocy, Adult Type CLN3 Related Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, Parry Type CLN3-Related Neuronal Ceroid-Lipofuscinoses Disease, Vogt Spielmeyer Spielmeyer Vogt Disease Cerebroretinal Degeneration, Juvenile Neuronal Ceroid Lipofuscinosis, Infantile Spielmeyer Sjogren Disease CLN4A Ceroid Lipofuscinosis, Neuronal 4 Santavuori Haltia Disease Neuronal Ceroid-Lipofuscinosis CLN4B Neuronal Ceroid Lipofuscinoses Neuronal Ceroid Lipofuscinosis, Late-Infantile Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive Batten Mayou Disease Batten Diseases, Juvenile Neuronal Ceroid Lipofuscinosis, Juvenile Late-Infantile Neuronal Ceroid Lipofuscinosis Storage Disease, Ceroid Santavuori-Haltia Disease Neuronal Ceroid Lipofuscinosis Juvenile Type Batten Disease, Juvenile Disease, Lipofuscin Storage Kuf's Disease Neuronal Ceroid Lipofuscinosis, Late Infantile Jansky-Bielschowsky Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Juvenile Neuronal Ceroid Lipofuscinosis Kufs Type Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Adult Vogt Spielmeyer Disease Ceroid Lipofuscinosis, Neuronal Spielmeyer Disease, Vogt Batten Disease Vogt-Spielmeyer Disease Disease, Juvenile Batten Kuf Disease Lipofuscinosis, Neuronal Ceroid Neuronal Ceroid-Lipofuscinosis, CLN3-Related Spielmeyer-Sjogren Disease Batten Spielmeyer Vogt Disease Spielmeyer-Vogt Disease Neuronal Ceroid-Lipofuscinoses, CLN3-Related CLN4As Lipofuscin Storage Disease Ceroid-Lipofuscinosis, CLN3-Related Neuronal Ceroid Lipofuscinosis, Neuronal, 3 Juvenile Cerebroretinal Degeneration Ceroid Lipofuscinosis, Neuronal 3, Juvenile Kufs Disease Autosomal Recessive See more See less
prefLabel	Neuronal Ceroid-Lipofuscinoses
TH	OMIM (2013) NLM (2000) NLM (2015) UNK (19XX) NLM (2022) GHR (2014) NLM (1998) NLM (2007) NLM (1983) NLM (2014) NLM (2011) ORD (2010) See more See less
notation	D009472
DX	19830101
Machine permutation	2007; see NEURONAL CEROID-LIPOFUSCINOSIS 1983-2006
MN	C16.320.400.600 C18.452.648.398.641.509 C16.320.565.398.641.509 C10.574.500.550 C18.452.584.563.641.509
MMR	20210630
Mapped from	http://purl.bioontology.org/ontology/MESH/C566438 http://purl.bioontology.org/ontology/MESH/C566627 http://purl.bioontology.org/ontology/MESH/C564953 http://purl.bioontology.org/ontology/MESH/C566857 http://purl.bioontology.org/ontology/MESH/C537953 http://purl.bioontology.org/ontology/MESH/C537952 http://purl.bioontology.org/ontology/MESH/C563989 http://purl.bioontology.org/ontology/MESH/C537948 http://purl.bioontology.org/ontology/MESH/C575534 See more See less
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
HN	2007 (1983)
subClassOf	http://purl.bioontology.org/ontology/MESH/D020271 http://purl.bioontology.org/ontology/MESH/D008064
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
DC	1
MDA	19820428
type	http://www.w3.org/2002/07/owl#Class
tui	T047
cui	C1834207 C5441658 C0027877 C0268281 C0022797 C0751383 C0022340 See more See less
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
TERMUI	T372157 T845013 T028230 T769369 T372153 T834217 T028233 T825408 T647813 T834215 T372155 T825409 T811339 T811336 T372156 T028232 T834216 T372158 T372154 T372161 T372160 T372152 T841843 T845011 T858835 T803075 T001106552 T372163 T826247 T811335 T843896 T372162 T769368 T841842 T372159 T811664 T845012 T803076 T841792 T028231 T028234 T811333 T372151 T845014 T028235 See more See less

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