DiseaseID 4370
北方癫痫综合征
disease
NCI2016_02D:A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocard
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Disease: 1Experiment: 1Formula: 21Herb: 7Symptom: 12Target: 24Links: 65
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4370
- Core Entity Id
- 60709
- Source Entity Count
- 1
- Preferred Name
- Northern Epilepsy Syndrome
- Name Cn
- 北方癫痫综合征
- Name Pinyin
- Bei Fang Dian Xian Zong He Zheng
- Name En
- Northern Epilepsy Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- NCI2016_02D:A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.|MSH2017_2016_08_12: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.|CSP2006:inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Northern Epilepsy Syndrome
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal 1, Infantile
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 1
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 10
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 11
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 13
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 2
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 3
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 4A, Autosomal Recessive
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 5
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 6
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 7
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, 8
Role
preferred
Name
Infantile Neuronal Ceroid Lipofuscinosis
Role
preferred
Name
Late-Infantile Neuronal Ceroid Lipfuscinosis
Role
preferred
Name
Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency
Role
preferred
Name
Neuronal Ceroid Lipofuscinosis, Congenital
Role
preferred
Name
Adult Neuronal Ceroid Lipofuscinosis
Role
preferred
Name
Ceroid Lipofuscinosis, Neuronal, Parry Type
Role
preferred
Name
Juvenile Neuronal Ceroid Lipofuscinosis
Role
preferred
Name
Neuronal Ceroid-Lipofuscinoses
Role
preferred
Name
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Role
preferred
Name
BATTEN DISEASE
Role
alias
Name
CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET
Role
alias
Name
CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE
Role
alias
Name
CEROID LIPOFUSCINOSIS, NEURONAL, 2, VARIABLE AGE AT ONSET
Role
alias
Name
CEROID LIPOFUSCINOSIS, NEURONAL, 5, VARIABLE AGE AT ONSET
Role
alias
Name
CEROID LIPOFUSCINOSIS, NEURONAL, 6, VARIABLE AGE AT ONSET
Role
alias
Name
CEROID LIPOFUSCINOSIS, NEURONAL, CATHEPSIN D-DEFICIENT
Role
alias
Name
CLN1
Role
alias
Name
CLN10
Role
alias
Name
CLN11
Role
alias
Name
CLN13
Role
alias
Name
CLN2
Role
alias
Name
CLN3
Role
alias
Name
CLN4A
Role
alias
Name
CLN5
Role
alias
Name
CLN6
Role
alias
Name
CLN7
Role
alias
Name
CLN8
Role
alias
Name
Ceroid Lipofuscinosis, Neuronal 5
Role
alias
Name
Ceroid Lipofuscinosis, Neuronal 8
Role
alias
Name
Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant
Role
alias
Name
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Role
alias
Name
Ceroid Storage Disease
Role
alias
Name
Epmr
Role
alias
Name
FINNISH VLINCL
Role
alias
Name
INCL
Role
alias
Name
JANSKY-BIELSCHOWSKY DISEASE
Role
alias
Name
JNCL
Role
alias
Name
LINCL
Role
alias
Name
NEURONAL CEROID LIPOFUSCINOSIS, INFANTILE
Role
alias
Name
NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE
Role
alias
Name
NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE
Role
alias
Name
NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT
Role
alias
Name
NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, VARIANT
Role
alias
Name
Neuronal Ceroid Lipofuscinosis
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 1
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 10
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 11
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 13
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 2
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 3
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 4A
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 4B
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 5
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 6
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 7
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 8
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
Role
alias
Name
Neuronal Ceroid Lipofuscinosis 9
Role
alias
Name
SANTAVUORI DISEASE
Role
alias
Name
SANTAVUORI-HALTIA DISEASE
Role
alias
Name
SPIELMEYER-SJOGREN DISEASE
Role
alias
Name
VLINCL
Role
alias
Name
VOGT-SPIELMEYER DISEASE
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001582HBDIS001633HBDIS002121HBDIS006242HBDIS011273HBDIS015226HBDIS015690HBDIS015691HBDIS016714HBDIS016716HBDIS018111HBDIS018112HBDIS018156HBDIS018301HBDIS018505HBDIS020331HBDIS021621HBDIS022136
Me Sh
D009472
Omim
162350204200204300204500214200256730256731600143601780610003610127610951614706615362
Umls
C0022340C0022797C0027877C0268281C0751383C1834207C1838570C1838571C1850442C1850451C1864669C1864670C1864923C1866282C1876161C2931673C3539123C3715049
Icd10
E75.4
Sym Map
SMDE00704SMDE00813SMDE00994SMDE01083SMDE01273SMDE02990SMDE03206SMDE03267SMDE03552SMDE04242SMDE04620SMDE05198SMDE06908SMDE06910SMDE09838SMDE10330SMDE11450SMDE11451SMDE11452
Do Class
DOID:0014667DOID:630
Dis Ge Net
C0022340C0022797C0027877C0268281C0751383C1834207C1838570C1838571C1850442C1850451C1864669C1864670C1864923C1866282C1876161C2931673C3539123C3715049
Orphanet
1947
Umls Sty
T047
Me Sh Class
C10C16C18
Etcm Disease
Adult Neuronal Ceroid LipofuscinosisCeroid Lipofuscinosis, Neuronal, 1Ceroid Lipofuscinosis, Neuronal, 10Ceroid Lipofuscinosis, Neuronal, 11Ceroid Lipofuscinosis, Neuronal, 13Ceroid Lipofuscinosis, Neuronal, 2Ceroid Lipofuscinosis, Neuronal, 3Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal RecessiveCeroid Lipofuscinosis, Neuronal, 5Ceroid Lipofuscinosis, Neuronal, 6Ceroid Lipofuscinosis, Neuronal, 7Ceroid Lipofuscinosis, Neuronal, 8
Tcmbank Disease
11659124591333713356144881481915232179521888721300243232478926386293334469603565889127
Itcmdb Generated
ITX-DISEASE-07B0E370B0C1ITX-DISEASE-118B05B1B5C6ITX-DISEASE-1892EEAFBCFDITX-DISEASE-212FB9F0007DITX-DISEASE-30F21726B836ITX-DISEASE-5954DCDF7EBFITX-DISEASE-ABB2D27CDE6BITX-DISEASE-AC05CD3FFA7AITX-DISEASE-C2F8880D7AADITX-DISEASE-CEDC08E5A8EEITX-DISEASE-DA69146FF1D7ITX-DISEASE-F056A8A6BEE0ITX-DISEASE-F6073E63AEA0ITX-DISEASE-F65EFB9EACBEITX-DISEASE-F863636179BF
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Adult Neuronal Ceroid Lipofuscinosis Details pageDisease Ceroid Lipofuscinosis, Neuronal, 1 Details pageDisease Ceroid Lipofuscinosis, Neuronal, 10 Details pageDisease Ceroid Lipofuscinosis, Neuronal, 11 Details pageDisease Ceroid Lipofuscinosis, Neuronal, 13 Details pageDisease Ceroid Lipofuscinosis, Neuronal, 2 Details pageDisease Ceroid Lipofuscinosis, Neuronal, 3 Details pageDisease Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Details pageDisease Ceroid Lipofuscinosis, Neuronal, 5 Details pageDisease Ceroid Lipofuscinosis, Neuronal, 6 Details pageDisease Ceroid Lipofuscinosis, Neuronal, 7 Details pageDisease Ceroid Lipofuscinosis, Neuronal, 8 Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Adult Neuronal Ceroid Lipofuscinosis
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 10
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 11
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 13
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 2
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 3
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 5
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 6
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 7
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Ceroid Lipofuscinosis, Neuronal, 8
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.|MSH2017_2016_08_12: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.|CSP2006:inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin.NCI2016_02D:A rare, often fatal, inherited neurodegenerative disorder characterized by the accumulation of lipopigments in the body. It is manifested in childhood. Signs and symptoms include progressive vision loss, progressive motor skills deterioration, mental impairment, and seizures.|MSH2017_2016_08_12:This type is caused by mutation in the CLN3 gene encoding a lysosomal integral membrane protein (Battenin).NCI2016_02D:A very rare form of neuronal ceroid lipofuscinosis inherited in an autosomal recessive pattern. During the first six to eighteen months of life development is normal. Subsequently, patients develop developmental abnormalities in speech and motor skills, blindness, epilepsy, and seizures.|MSH2017_2016_08_12: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.NCI2016_02D:Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life.|MSH2017_2016_08_12:This type is caused by mutation in the CLN2 gene encoding tripeptidyl-peptidase I, a lysosomal serine protease.Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive dec
Me Sh Disease Class
Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome