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MCID: MLT161
MIFTS: 28
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Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly
Categories:
Genetic diseases, Neuronal diseases, Nephrological diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...
MalaCards integrated aliases for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:
Name: Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly
57
37
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
death in utero or within minutes after birth HPO:32
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Nephrological diseases
Orphanet: 59
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis
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OMIM
:
57
MARCH is an autosomal recessive lethal congenital disorder 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. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017). (236500)
MalaCards based summary : Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly, also known as hydranencephaly with renal aplasia-dysplasia, is related to yusho disease and influenza. An important gene associated with Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly is CEP55 (Centrosomal Protein 55). Affiliated tissues include kidney, brain and skin, and related phenotypes are renal hypoplasia and renal agenesis UniProtKB/Swiss-Prot : 75 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly: An autosomal recessive, congenital disease characterized by severe hydranencephaly with multinucleated neurons, renal aplasia or dysplasia, and hypoplastic kidneys. Hydranencephaly is an anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. MARCH results in death in utero or in the perinatal period. |
Symptoms & Phenotypes for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:236500Human phenotypes related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:32
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Drugs & Therapeutics for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar...
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MalaCards organs/tissues related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:41
Kidney,
Brain,
Skin,
Cortex
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Genes related to Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly:6
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Search
GEO
for disease gene expression data for Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly.
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