Disease

multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly

Definition
A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23.
Synonyms
  • MARCH
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Gene
Species
Association
Disease Qualifier
Disease
Evidence
Based On
Source
References
Homo sapiensis implicated inmultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
  • IAGP
Danio reriois implicated inmultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
  • TAS
Homo sapiensis implicated via orthologymultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
  • IEA
MGI:6194238
Rattus norvegicusis implicated via orthologymultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
  • IEA
MGI:6194238
Mus musculusis implicated via orthologymultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
  • IEA
MGI:6194238
Xenopus laevisis implicated via orthologymultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
  • IEA
MGI:6194238
Danio reriois implicated via orthologymultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
  • IEA
MGI:6194238
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Associated Alleles

Allele
Species
Association
Disease Qualifier
Disease
Evidence
Source
References
Danio reriois implicated inmultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
  • TAS
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Associated Models

Model
Species
Experimental condition
Association
Disease Qualifiers
Disease
Condition Modifier
Genetic Modifier
Evidence
Source
References
Danio rerio
has condition:
standard conditions
is model ofmultinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
  • TAS
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