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- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Acute Kidney Tubular Necrosis
- Standard Disease Name
- acute kidney tubular necrosis
- MeSH Tree
- No data
- ICD-10
- Q03.1
Identifiers
- DO ID
- No data
- MeSH ID
- D003616
- OMIM ID
- 220200|MTHU003988|MTHU012375
- UMLS ID
- C0010964
- HPO ID
- No data
Description and Extensions
- Description
- 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]
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Related Targets
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