NEDMISBA
MCID: NRD102
MIFTS: 33
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Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities (NEDMISBA)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:
Name: Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities
57
12
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset at birth variable phenotype and severity HPO:31
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities:
Inheritance autosomal recessive inheritance Onset and clinical course progressive congenital onset Classifications: |
OMIM® :
57
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) is an autosomal recessive disorder characterized by a spectrum of neurologic abnormalities apparent from early infancy. Affected individuals have impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death (summary by Harel et al., 2018). (616486) (Updated 05-Mar-2021)
MalaCards based summary : Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities, also known as primary autosomal recessive microcephaly 15, is related to seckel syndrome 8 and microcephaly 18, primary, autosomal dominant. An important gene associated with Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities is MFSD2A (Major Facilitator Superfamily Domain Containing 2A). Affiliated tissues include brain and cortex, and related phenotypes are hyperreflexia and global developmental delay Disease Ontology : 12 A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has material basis in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. UniProtKB/Swiss-Prot : 73 Microcephaly 15, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. |
Human phenotypes related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616486 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:40
Brain,
Cortex
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Articles related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:6
UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:73
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities.
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Cellular components related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities according to GeneCards Suite gene sharing:
Biological processes related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities according to GeneCards Suite gene sharing:
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