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SCA42ND
MCID: SPN424
MIFTS: 19
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Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits (SCA42ND)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:Characteristics:OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
de novo mutation onset soon after birth or in early infancy four unrelated girls have been reported (last curated august 2018) Classifications: |
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UniProtKB/Swiss-Prot
:
76
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA42ND is an early- onset, severe form associated with motor and cognitive impairment, cerebellar atrophy as well as variable features such as facial dysmorphisms, digital anomalies, microcephaly and epilepsy. SCA42ND inheritance is autosomal dominant.
MalaCards based summary : Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits, is also known as sca42nd. An important gene associated with Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits is CACNA1G (Calcium Voltage-Gated Channel Subunit Alpha1 G). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are hypertelorism and clinodactyly
Description from OMIM:
618087
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Human phenotypes related to Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:33 (show all 22)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618087 |
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MalaCards organs/tissues related to Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:42
Eye,
Spinal Cord,
Cerebellum
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Genes related to Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:76
ClinVar genetic disease variations for Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits.
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