DiseaseID 9359
开曼型小脑性共济失调
disease
Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral anirid
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Disease: 1Symptom: 7Target: 22Links: 31
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 9359
- Core Entity Id
- 66423
- Source Entity Count
- 1
- Preferred Name
- Cerebellar Ataxia, Cayman Type
- Name Cn
- 开曼型小脑性共济失调
- Name Pinyin
- Kai Man Xing Xiao Nao Xing Gong Ji Shi Tiao
- Name En
- Cerebellar Ataxia, Cayman Type
- 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 Diseases; Pathological Conditions, Signs and SymptomsNervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease; disease of anatomical entity
- Disease Definition
- Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral anirid
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cerebellar Ataxia, Cayman Type
Role
preferred
Name
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Role
preferred
Name
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Role
preferred
Name
Congenital Non-Progressive Ataxia
Role
preferred
Name
ATCAY
Role
alias
Name
Cayman Type Cerebellar Ataxia
Role
alias
Name
Congenital Nonprogressive Ataxia
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS008749HBDIS028761
Omim
601238
Umls
C0431401C1832585C1859298
Icd10
G11.0
Sym Map
SMDE00338SMDE01040SMDE02662
Do Class
DOID:630DOID:7
Dis Ge Net
C0394004C1832585
Orphanet
10651170
Umls Sty
T047
Me Sh Class
C10C16C23
Etcm Disease
Cerebellar Ataxia, Cayman Type
Tcmbank Disease
16374
Itcmdb Generated
ITX-DISEASE-23EC196F8154
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2
Suppress
0
Page Title
Disease Cerebellar Ataxia, Cayman Type Details page
Do Class Name
genetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Cerebellar Ataxia, Cayman Type
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridSNOMEDCT_US_2016_09_01:Cerebellar ataxia Cayman type has characteristics of psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. The prevalence is unknown, but the disorder is very rare in the general population. However, a founder mutation has led to a high incidence in the Cayman island population. The disorder is transmitted as an autosomal recessive trait and is caused by mutations in the ATCAY gene (19p13.3), encoding Caytaxin.SNOMEDCT_US_2016_09_01:In this disorder cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive.|SNOMEDCT_US_2016_09_01:In this disorder cerebellar ataxia is congenital (non-progressive) and characterised by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. The mode of inheritance in the few reported families is autosomal recessive.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsNervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome