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NDMSCA
MCID: NRD038
MIFTS: 29
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Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy (NDMSCA)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Seizures, and...
MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy progressive disorder early death may occur HPO:31
neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset progressive Classifications: |
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OMIM :
56
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) is an autosomal recessive disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth, as well as postnatal progressive microcephaly. Most patients develop early-onset, frequent, and often intractable seizures, compatible with an epileptic encephalopathy. Other features include poor feeding, poor overall growth, absent speech, poor or absent eye contact, inability to achieve walking, hypotonia, and peripheral spasticity. Brain imaging usually shows progressive cerebral atrophy, thin corpus callosum, and abnormalities in myelination. Death in childhood may occur (summary by Siekierska et al., 2019). (617802)
MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy, also known as ndmsca, is related to combined oxidative phosphorylation deficiency 2 and combined oxidative phosphorylation deficiency 20. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy is VARS1 (Valyl-TRNA Synthetase 1), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include brain, eye and liver, and related phenotypes are global developmental delay and depressed nasal bridge UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy: An autosomal recessive neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, severe microcephaly, and cortical atrophy. |
Diseases related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:
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Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:31 (show all 19)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617802 |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:40
Brain,
Eye,
Liver
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Articles related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:
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Genes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy:6 (show all 19)
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy.
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Biological processes related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy according to GeneCards Suite gene sharing:
Molecular functions related to Neurodevelopmental Disorder with Microcephaly, Seizures, and Cortical Atrophy according to GeneCards Suite gene sharing:
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