DiseaseID 15597
卡拉克综合征
disease
Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological s
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Disease: 1Symptom: 12Target: 23Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 15597
- Core Entity Id
- 73550
- Source Entity Count
- 1
- Preferred Name
- Karak Syndrome
- Name Cn
- 卡拉克综合征
- Name Pinyin
- Ka La Ke Zong He Zheng
- Name En
- Karak Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System DiseasesNervous System Diseases; Nutritional and Metabolic Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System DiseasesNutritional and Metabolic Diseases; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological s
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Karak Syndrome
Role
preferred
Name
Infantile Neuroaxonal Dystrophy
Role
preferred
Name
Neuroaxonal Dystrophies
Role
preferred
Name
Neurodegeneration With Brain Iron Accumulation 2 (Disorder)
Role
preferred
Name
Neurodegeneration With Brain Iron Accumulation 2A
Role
preferred
Name
Neurodegeneration With Brain Iron Accumulation 2B
Role
preferred
Name
Neurodegeneration With Brain Iron Accumulation 4
Role
preferred
Name
Neurodegeneration With Brain Iron Accumulation 5
Role
preferred
Name
Neurodegeneration With Brain Iron Accumulation 6
Role
preferred
Name
Aceruloplasminemia
Role
preferred
Name
Adult Neuroaxonal Dystrophy
Role
preferred
Name
Hallervorden-Spatz Syndrome
Role
preferred
Name
Juvenile Neuroaxonal Dystrophy
Role
preferred
Name
Late Infantile Neuroaxonal Dystrophy
Role
preferred
Name
Neurodegeneration With Brain Iron Accumulation 3
Role
preferred
Name
BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION
Role
alias
Name
BPAN
Role
alias
Name
Hallervorden-Spatz Disease
Role
alias
Name
INAD
Role
alias
Name
INAD1
Role
alias
Name
MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
Role
alias
Name
MPAN
Role
alias
Name
NBIA2A
Role
alias
Name
NBIA2B
Role
alias
Name
NBIA4
Role
alias
Name
NBIA5
Role
alias
Name
NBIA6
Role
alias
Name
NEUROAXONAL DYSTROPHY, ATYPICAL
Role
alias
Name
NEUROAXONAL DYSTROPHY, INFANTILE
Role
alias
Name
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
Role
alias
Name
NEURODEGENERATION, PLA2G6-ASSOCIATED
Role
alias
Name
Neuroaxonal Dystrophy
Role
alias
Name
Neurodegeneration With Brain Iron Accumulation 1
Role
alias
Name
PLAN
Role
alias
Name
Pantothenate Kinase-Associated Neurodegeneration
Role
alias
Name
Phospholipase A2-associated Neurodegeneration
Role
alias
Name
SEITELBERGER DISEASE
Role
alias
Name
SENDA
Role
alias
Name
STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS001237HBDIS006484HBDIS007665HBDIS011431HBDIS011432HBDIS011433HBDIS017468HBDIS019844HBDIS021293HBDIS021710HBDIS022418
Me Sh
D006211D019150
Omim
234200256600300894610217614298615643
Umls
C0270724C0338473C0878682C1853578C1857747C1858583C2750220C3280371C3550973C3810230
Icd10
G23.0
Sym Map
SMDE00586SMDE00947SMDE01038SMDE01998SMDE02660SMDE02782SMDE04501SMDE04747SMDE10158SMDE11422SMDE11429
Do Class
DOID:630DOID:7
Dis Ge Net
C0018523C0270724C0338473C0751716C0751717C0751718C1857747C2750220C3280371C3550973C3810230
Orphanet
1578463506948818
Umls Sty
T047
Me Sh Class
C10C16C18
Etcm Disease
Aceruloplasminemia
Tcmbank Disease
1065111011537615661594417443189622048622239322918946
Itcmdb Generated
ITX-DISEASE-296A02D084A8ITX-DISEASE-3AB152B99E31ITX-DISEASE-C224ACDAAC32
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
01
Page Title
Disease Aceruloplasminemia Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
diseasegroup
Link Disease Id
1038.0
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Aceruloplasminemia
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Eye diseases;Neuronal diseases
Disease Definition
Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological sInfantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay MSH2017_2016_08_12:A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)NCI2016_02D:A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System DiseasesNervous System Diseases; Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System DiseasesNutritional and Metabolic Diseases; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome