MSCCA
MCID: MCR355
MIFTS: 23
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Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy (MSCCA)
Categories:
Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:
Characteristics:Orphanet epidemiological data:59
diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset at birth or early infancy dysmorphic features are variable two unrelated families have been reported (last curated april 2014) HPO:32
microcephaly, progressive, with seizures and cerebral and cerebellar atrophy:
Onset and clinical course progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases
ICD10:
34
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UniProtKB/Swiss-Prot
:
75
Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy: A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia.
MalaCards based summary : Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy, is also known as microcephaly, progressive, seizures, and cerebral and cerebellar atrophy. An important gene associated with Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy is QARS (Glutaminyl-TRNA Synthetase), and among its related pathways/superpathways are Viral mRNA Translation and tRNA Aminoacylation. Affiliated tissues include cortex, and related phenotypes are low-set ears and hyperreflexia OMIM : 57 Progressive microcephaly with seizures and cerebral and cerebellar atrophy is a severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. Patients are born with microcephaly and soon develop intractable seizures, resulting in profoundly delayed development and hypotonia (summary by Zhang et al., 2014). (615760) |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615760Human phenotypes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:32 (show all 18)
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MalaCards organs/tissues related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:41
Cortex
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UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:75
ClinVar genetic disease variations for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:6 (show top 50) (show all 228)
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Search
GEO
for disease gene expression data for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy.
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