CASVDD
MCID: CRB205
MIFTS: 22

Cerebellar Atrophy with Seizures and Variable Developmental Delay (CASVDD)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cerebellar Atrophy with Seizures and Variable Developmental...

MalaCards integrated aliases for Cerebellar Atrophy with Seizures and Variable Developmental Delay:

Name: Cerebellar Atrophy with Seizures and Variable Developmental Delay 56 73 6
Casvdd 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
one patient with only a single seizure and normal cognitive development has been reported


HPO:

31
cerebellar atrophy with seizures and variable developmental delay:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Cerebellar Atrophy with Seizures and Variable Developmental...

OMIM : 56 Cerebellar atrophy with seizures and variable developmental delay (CASVDD) is an autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging. Most patients also have onset of severe refractory seizures in the first year of life and show global developmental delay, compatible with epileptic encephalopathy (summary by Edvardson et al., 2013). However, at least 1 patient with normal cognitive development and only 1 febrile seizure has been reported (Valence et al., 2019), suggesting significant clinical variability of this disorder. (618501)

MalaCards based summary : Cerebellar Atrophy with Seizures and Variable Developmental Delay, also known as casvdd, is related to early infantile epileptic encephalopathy. An important gene associated with Cerebellar Atrophy with Seizures and Variable Developmental Delay is CACNA2D2 (Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2). Affiliated tissues include brain and eye, and related phenotypes are abnormal facial shape and nystagmus

UniProtKB/Swiss-Prot : 73 Cerebellar atrophy with seizures and variable developmental delay: An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported.

Related Diseases for Cerebellar Atrophy with Seizures and Variable Developmental...

Diseases related to Cerebellar Atrophy with Seizures and Variable Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 9.2 CYB561D2 CACNA2D2

Symptoms & Phenotypes for Cerebellar Atrophy with Seizures and Variable Developmental...

Human phenotypes related to Cerebellar Atrophy with Seizures and Variable Developmental Delay:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 very rare (1%) HP:0001999
2 nystagmus 31 HP:0000639
3 dysarthria 31 HP:0001260
4 chorea 31 HP:0002072
5 global developmental delay 31 HP:0001263
6 strabismus 31 HP:0000486
7 gait ataxia 31 HP:0002066
8 dysmetria 31 HP:0001310
9 inability to walk 31 HP:0002540
10 epileptic encephalopathy 31 HP:0200134
11 cerebellar vermis atrophy 31 HP:0006855
12 poor eye contact 31 HP:0000817
13 muscular hypotonia of the trunk 31 HP:0008936

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
strabismus
poor eye contact
abnormal eye movements

Muscle Soft Tissue:
axial hypotonia
peripheral hypertonia

Neurologic Central Nervous System:
ataxia
dysarthria
dysmetria
cerebellar vermis atrophy
ataxic gait
more
Head And Neck Face:
dysmorphic facial features (1 patient)

Clinical features from OMIM:

618501

Drugs & Therapeutics for Cerebellar Atrophy with Seizures and Variable Developmental...

Search Clinical Trials , NIH Clinical Center for Cerebellar Atrophy with Seizures and Variable Developmental Delay

Genetic Tests for Cerebellar Atrophy with Seizures and Variable Developmental...

Anatomical Context for Cerebellar Atrophy with Seizures and Variable Developmental...

MalaCards organs/tissues related to Cerebellar Atrophy with Seizures and Variable Developmental Delay:

40
Brain, Eye

Publications for Cerebellar Atrophy with Seizures and Variable Developmental...

Articles related to Cerebellar Atrophy with Seizures and Variable Developmental Delay:

# Title Authors PMID Year
1
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. 56 6
29997391 2019
2
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants. 56 6
30410802 2018
3
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 56 6
24358150 2013
4
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 56
23339110 2013
5
entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. 56
14660671 2004
6
The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated alpha 2 delta-2 protein with abnormal function. 56
11756448 2002

Variations for Cerebellar Atrophy with Seizures and Variable Developmental...

ClinVar genetic disease variations for Cerebellar Atrophy with Seizures and Variable Developmental Delay:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA2D2 NM_001174051.3(CACNA2D2):c.1295del (p.Asn432fs)deletion Pathogenic 100785 rs587777165 3:50416390-50416390 3:50378959-50378959
2 CACNA2D2 NM_001174051.3(CACNA2D2):c.3158T>C (p.Leu1053Pro)SNV Pathogenic 637020 3:50402577-50402577 3:50365146-50365146
3 CACNA2D2 NM_001174051.3(CACNA2D2):c.2992G>A (p.Asp998Asn)SNV Pathogenic 637021 3:50403064-50403064 3:50365633-50365633
4 CACNA2D2 NM_001174051.3(CACNA2D2):c.782C>T (p.Pro261Leu)SNV Uncertain significance 530501 rs1211603072 3:50418428-50418428 3:50380997-50380997

Expression for Cerebellar Atrophy with Seizures and Variable Developmental...

Search GEO for disease gene expression data for Cerebellar Atrophy with Seizures and Variable Developmental Delay.

Pathways for Cerebellar Atrophy with Seizures and Variable Developmental...

GO Terms for Cerebellar Atrophy with Seizures and Variable Developmental...

Sources for Cerebellar Atrophy with Seizures and Variable Developmental...

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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