DiseaseID 3755
丹迪-沃克综合征
disease
NCI2016_02D:A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa.|MSH2017_2016_
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Disease: 1Symptom: 3Target: 22Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3755
- Core Entity Id
- 59998
- Source Entity Count
- 1
- Preferred Name
- Dandy-Walker Syndrome
- Name Cn
- 丹迪-沃克综合征
- Name Pinyin
- Dan Di - Wo Ke Zong He Zheng
- Name En
- Dandy-Walker 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 DiseasesNervous System Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
- Hpo Class Name
- Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa.|MSH2017_2016_08_12:A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)|JABL99:Hydrocephalus, absence of the cerebellar vermis, and posterior fossa cyst continuous with the fourth ventricle are the main characteristics of this syndrome. About 4% of all cases of hydrocephalus are complicated by DWS. Associated disorders may include Aase-Smith syndrome 1, Aicardi, Coffin-Siris, cryptophthalmos, Ehlers-Danlos, Ellis-van Creveld, Jones syndrome, Joubert, Ruvalcaba-Myhre-Smith, Walker-Warburg, Meckel, Ritscher-Schinzel, and Veradi syndromes. Dandy-Walker syndrome associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis inherited as an X-linked recessive trait was reported as a separate syndrome.|HPO2016_07_04:A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. [HPO:probinson]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dandy-Walker Syndrome
Role
preferred
Name
Dandy-Walker Syndrome, Familial
Role
preferred
Name
Internal Hydrocephalus
Role
preferred
Name
Atresia of Foramina of Magendie And Luschka
Role
alias
Name
Dandy-Walker Anomaly
Role
alias
Name
Dandy-Walker Cyst
Role
alias
Name
Dandy-Walker Malformation
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001305
Herb
HBDIS000715HBDIS012323HBDIS022727
Me Sh
D003616
Umls
C0010964
Icd10
Q03.1
Sym Map
SMDE07727
Do Class
DOID:7
Dis Ge Net
C0010964C0878515C3887633
Umls Sty
T047
Hpo Class
HP:0000152HP:0000707HP:0000924
Me Sh Class
C10C16
Etcm Disease
Dandy-Walker Syndrome
Tcmbank Disease
26794317223260
Itcmdb Generated
ITX-DISEASE-94D9E8FAB841
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Dandy-Walker Syndrome Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of the nervous system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Dandy-Walker Syndrome
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Definition
NCI2016_02D:A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa.|MSH2017_2016_08_12:A congenital abnormality of the central nervous system marked by failure of the midline structures of the cerebellum to develop, dilation of the fourth ventricle, and upward displacement of the transverse sinuses, tentorium, and torcula. Clinical features include occipital bossing, progressive head enlargement, bulging of anterior fontanelle, papilledema, ataxia, gait disturbances, nystagmus, and intellectual compromise. (From Menkes, Textbook of Child Neurology, 5th ed, pp294-5)|JABL99:Hydrocephalus, absence of the cerebellar vermis, and posterior fossa cyst continuous with the fourth ventricle are the main characteristics of this syndrome. About 4% of all cases of hydrocephalus are complicated by DWS. Associated disorders may include Aase-Smith syndrome 1, Aicardi, Coffin-Siris, cryptophthalmos, Ehlers-Danlos, Ellis-van Creveld, Jones syndrome, Joubert, Ruvalcaba-Myhre-Smith, Walker-Warburg, Meckel, Ritscher-Schinzel, and Veradi syndromes. Dandy-Walker syndrome associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis inherited as an X-linked recessive trait was reported as a separate syndrome.|HPO2016_07_04:A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. [HPO:probinson]
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
Umls Semantic Type Name
Disease or Syndrome