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NEDSPM
MCID: NRD101
MIFTS: 26
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Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly (NEDSPM)
Categories:
Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly:
Name: Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly
57
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
variable severity progressive disorder onset in the first year of life HPO:31
neurodevelopmental disorder with spastic paraplegia and microcephaly:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Mental diseases
Orphanet: 58
Rare neurological diseases |
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OMIM® :
57
Neurodevelopmental disorder with spastic paraplegia and microcephaly (NEDSPM) is an autosomal recessive neurologic syndrome characterized by delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech. More severely affected individuals show poor overall growth with progressive microcephaly, axial hypotonia, oromotor dysfunction with drooling, joint contractures, and spastic paraplegia resulting in walking difficulties. Some patients may develop seizures; nonspecific dysmorphic features have also been reported (summary by Hengel et al., 2018 and Ouyang et al., 2019). (616281) (Updated 05-Mar-2021)
MalaCards based summary : Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly, is also known as mental retardation, autosomal recessive 49. An important gene associated with Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly is GPT2 (Glutamic--Pyruvic Transaminase 2). Affiliated tissues include brain, and related phenotypes are intellectual disability and hyperreflexia UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal recessive 49: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT49 patients show a developmental encephalopathy characterized by rapid onset of failure to thrive and microcephaly, as well as profoundly delayed development. |
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Human phenotypes related to Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly:58 31 (show all 29)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616281 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly:40
Brain
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Articles related to Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly:
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Genes related to Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly:6 (show all 11)
UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly:73
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly.
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