CADEDS
MCID: CRB169
MIFTS: 42

Cerebellar Atrophy, Developmental Delay, and Seizures (CADEDS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Cerebellar Atrophy, Developmental Delay, and Seizures

MalaCards integrated aliases for Cerebellar Atrophy, Developmental Delay, and Seizures:

Name: Cerebellar Atrophy, Developmental Delay, and Seizures 57 75 6
Neurodevelopmental Disorders 44 73
Cadeds 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
variable response to anti-epileptic drugs
two sisters born of consanguineous saudi parents have been reported (last curated august 2017)


HPO:

32
cerebellar atrophy, developmental delay, and seizures:
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

OMIM 57 617643
SNOMED-CT via HPO 69 224958001 95646004 274521009
UMLS 73 C1535926

Summaries for Cerebellar Atrophy, Developmental Delay, and Seizures

UniProtKB/Swiss-Prot : 75 Cerebellar atrophy, developmental delay, and seizures: An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy.

MalaCards based summary : Cerebellar Atrophy, Developmental Delay, and Seizures, also known as neurodevelopmental disorders, is related to alacrima, achalasia, and mental retardation syndrome and neurodevelopmental disorder with severe motor impairment and absent language. An important gene associated with Cerebellar Atrophy, Developmental Delay, and Seizures is KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1). Affiliated tissues include brain, heart and testes, and related phenotypes are eeg abnormality and global developmental delay

Description from OMIM: 617643

Related Diseases for Cerebellar Atrophy, Developmental Delay, and Seizures

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

(show top 50) (show all 238)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 29.6 BRPF1 EBF3
2 neurodevelopmental disorder with severe motor impairment and absent language 12.4
3 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 12.4
4 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 12.4
5 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.4
6 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 12.4
7 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 12.4
8 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 12.4
9 neurodevelopmental disorder with involuntary movements 12.4
10 neurodevelopmental disorder with midbrain and hindbrain malformations 12.4
11 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 12.4
12 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 12.4
13 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 12.3
14 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 12.3
15 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 12.3
16 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 12.3
17 neurodevelopmental disorder with or without seizures and gait abnormalities 12.3
18 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 12.3
19 neurodevelopmental disorder with brain, liver, and lung abnormalities 12.3
20 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.3
21 neurodevelopmental disorder with microcephaly, ataxia, and seizures 12.3
22 neurodevelopmental disorder with poor language and loss of hand skills 12.3
23 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 12.3
24 grin2b-related neurodevelopmental disorder 12.3
25 alcohol-related neurodevelopmental disorder 12.3
26 gatad2b-associated neurodevelopmental disorder 12.2
27 chd2-related neurodevelopmental disorders 12.2
28 pura-related neurodevelopmental disorders 12.2
29 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 12.1
30 neurodevelopmental disorder with spasticity and poor growth 12.1
31 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 12.1
32 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 12.1
33 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 12.0
34 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion 12.0
35 plaa-associated neurodevelopmental disorder 12.0
36 fetal alcohol syndrome 11.8
37 mbd5 haploinsufficiency 11.7
38 pura syndrome 11.6
39 fetal alcohol spectrum disorder 11.5
40 chd2 myoclonic encephalopathy 11.5
41 rett syndrome 11.4
42 deaf1-associated disorders 11.4
43 smith-kingsmore syndrome 11.3
44 angelman syndrome 11.3
45 au-kline syndrome 11.2
46 alcohol-related birth defect 11.1
47 you-hoover-fong syndrome 11.0
48 squalene synthase deficiency 11.0
49 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 11.0
50 hyperparathyroidism, neonatal severe 10.9

Graphical network of the top 20 diseases related to Cerebellar Atrophy, Developmental Delay, and Seizures:



Diseases related to Cerebellar Atrophy, Developmental Delay, and Seizures

Symptoms & Phenotypes for Cerebellar Atrophy, Developmental Delay, and Seizures

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
cerebellar atrophy
poor speech
abnormal eeg
delayed psychomotor development, severe
seizures, myoclonic
more
Head And Neck Head:
decline in head circumference with age

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617643

Human phenotypes related to Cerebellar Atrophy, Developmental Delay, and Seizures:

32
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 32 HP:0002353
2 global developmental delay 32 HP:0001263
3 cerebellar atrophy 32 HP:0001272
4 poor speech 32 HP:0002465
5 generalized tonic-clonic seizures with focal onset 32 HP:0007334

Drugs & Therapeutics for Cerebellar Atrophy, Developmental Delay, and Seizures

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

Cochrane evidence based reviews: neurodevelopmental disorders

Genetic Tests for Cerebellar Atrophy, Developmental Delay, and Seizures

Anatomical Context for Cerebellar Atrophy, Developmental Delay, and Seizures

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

41
Brain, Heart, Testes, Thyroid, Skin, Eye, Liver

Publications for Cerebellar Atrophy, Developmental Delay, and Seizures

Articles related to Cerebellar Atrophy, Developmental Delay, and Seizures:

(show top 50) (show all 739)
# Title Authors Year
1
Attention-deficit/hyperactivity disorder and risk for psychiatric and neurodevelopmental disorders in siblings. ( 29607791 )
2018
2
Dysregulated Translation in Neurodevelopmental Disorders: An Overview of Autism-Risk Genes Involved in Translation. ( 30430754 )
2018
3
Neurodevelopmental Disorders Affecting Sociability: Recent Research Advances and Future Directions in Autism Spectrum Disorder and Williams Syndrome. ( 30328520 )
2018
4
Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia. ( 30170228 )
2018
5
Atypical fetal development: Fetal alcohol syndrome, nutritional deprivation, teratogens, and risk for neurodevelopmental disorders and psychopathology. ( 30068419 )
2018
6
Neurodevelopmental disorders associated with juvenile fibromyalgia. ( 30407706 )
2018
7
Platelets as a surrogate disease model of neurodevelopmental disorders: Insights from Fragile X Syndrome. ( 28660769 )
2018
8
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome. ( 29217836 )
2018
9
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders. ( 30216533 )
2018
10
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies. ( 29523172 )
2018
11
Erratum to: Oxytocin Signaling in the Early Life of Mammals: Link to Neurodevelopmental Disorders Associated with ASD. ( 29569160 )
2018
12
Oxytocin Signaling in the Early Life of Mammals: Link to Neurodevelopmental Disorders Associated with ASD. ( 28812269 )
2018
13
A possible connection between childhood pain, joint hypermobility and Neurodevelopmental disorders. ( 29637603 )
2018
14
Perinatal insults and neurodevelopmental disorders may impact Huntington's disease age of diagnosis. ( 29804730 )
2018
15
Cryptorchidism and increased risk of neurodevelopmental disorders. ( 29065375 )
2018
16
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. ( 30167849 )
2018
17
Inaugural annual special section of the intellectual and developmental disabilities research centers: developmental cognitive neuroscience and neurodevelopmental disorders. ( 30541435 )
2018
18
Increasing Role of Maternal Immune Activation in Neurodevelopmental Disorders. ( 30344483 )
2018
19
Bridging the species gap in translational research for neurodevelopmental disorders. ( 30347236 )
2018
20
Advances in our understanding of the genetics of childhood neurodevelopmental disorders. ( 30361329 )
2018
21
Should Heritage Languages be Incorporated into Interventions for Bilingual Individuals with Neurodevelopmental Disorders? A Systematic Review. ( 30368629 )
2018
22
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders. ( 30370994 )
2018
23
Erratum: Primary Health Care as a guide for assistance to infants at risk of neurodevelopmental disorders. ( 30379192 )
2018
24
Preterm Birth and the Risk of Neurodevelopmental Disorders - Is There a Role for Epigenetic Dysregulation? ( 30386170 )
2018
25
Increased Risk for Neurodevelopmental Disorders in Children With Orofacial Clefts. ( 30392629 )
2018
26
Assessment of upper limb use in children with typical development and neurodevelopmental disorders by inertial sensors: a systematic review. ( 30400992 )
2018
27
Strength and weakness of the guidelines of Rights of Persons with Disabilities Act, 2016 (dated January 5, 2018): With respect to the persons with neurodevelopmental disorders. ( 30405249 )
2018
28
Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders. ( 30405350 )
2018
29
Parental Intention to Support the Use of Computerized Cognitive Training for Children With Genetic Neurodevelopmental Disorders. ( 30406073 )
2018
30
Attachment style: The neurobiological substrate, interaction with genetics and role in neurodevelopmental disorders risk pathways. ( 30412700 )
2018
31
Prenatal stress and the developing brain: Risks for neurodevelopmental disorders - ERRATUM. ( 30419979 )
2018
32
Effectiveness of serotonergic drugs in the management of problem behaviors in patients with neurodevelopmental disorders. ( 30439864 )
2018
33
Assessing risk of neurodevelopmental disorders after birth with oxytocin: a systematic review and meta-analysis. ( 30444210 )
2018
34
Human Models Are Needed for Studying Human Neurodevelopmental Disorders. ( 30526865 )
2018
35
Putative contributions of the sex chromosome proteins SOX3 and SRY to neurodevelopmental disorders. ( 30537354 )
2018
36
Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders. ( 30537371 )
2018
37
Rehabilitation-induced brain changes detected through magnetic resonance imaging in children with neurodevelopmental disorders: A systematic review. ( 30550748 )
2018
38
Upregulated levels and pathological aggregation of abnormally phosphorylated Tau-Protein in children with neurodevelopmental disorders. ( 30550860 )
2018
39
The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes. ( 29309830 )
2018
40
Maternal thyroid hormone insufficiency during pregnancy and risk of neurodevelopmental disorders in offspring: A systematic review and meta-analysis. ( 29325223 )
2018
41
Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders. ( 29327725 )
2018
42
Neural circuit dysfunction in mouse models of neurodevelopmental disorders. ( 29329089 )
2018
43
CNV biology in neurodevelopmental disorders. ( 29331932 )
2018
44
ASQ-3: Validation of the Ages and Stages Questionnaire for the detection of neurodevelopmental disorders in Argentine children. ( 29333806 )
2018
45
Development and disease in a dish: the epigenetics of neurodevelopmental disorders. ( 29334242 )
2018
46
Neuroimaging in neurodevelopmental disorders: focus on resting-state fMRI analysis of intrinsic functional brain connectivity. ( 29351108 )
2018
47
Abnormal behaviours relevant to neurodevelopmental disorders in Kirrel3-knockout mice. ( 29362445 )
2018
48
Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders. ( 29365100 )
2018
49
The Promise of Electroencephalography for Advancing Diagnosis and Treatment in Neurodevelopmental Disorders. ( 29397082 )
2018
50
Temporal changes in the incidence of treated psychiatric and neurodevelopmental disorders during adolescence: an analysis of two national Finnish birth cohorts. ( 29398636 )
2018

Variations for Cerebellar Atrophy, Developmental Delay, and Seizures

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBR1 NM_006593.3(TBR1): c.1588_1594dupGGCTGCA (p.Thr532Argfs) duplication Likely pathogenic rs869312704 GRCh37 Chromosome 2, 162280277: 162280283
2 TBR1 NM_006593.3(TBR1): c.1588_1594dupGGCTGCA (p.Thr532Argfs) duplication Likely pathogenic rs869312704 GRCh38 Chromosome 2, 161423766: 161423772
3 BRPF1 NM_001003694.1(BRPF1): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs1057519511 GRCh37 Chromosome 3, 9776186: 9776187
4 BRPF1 NM_001003694.1(BRPF1): c.362_363delAG (p.Glu121Glyfs) deletion Pathogenic rs1057519511 GRCh38 Chromosome 3, 9734502: 9734503
5 EBF3 NM_001005463.2(EBF3): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs1057519522 GRCh37 Chromosome 10, 131676052: 131676052
6 EBF3 NM_001005463.2(EBF3): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic rs1057519522 GRCh38 Chromosome 10, 129877788: 129877788
7 AIMP2 NM_006303.3(AIMP2): c.105C> A (p.Tyr35Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs529613640 GRCh38 Chromosome 7, 6009468: 6009468
8 AIMP2 NM_006303.3(AIMP2): c.105C> A (p.Tyr35Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs529613640 GRCh37 Chromosome 7, 6049099: 6049099
9 KCNMA1 NM_001014797.2(KCNMA1): c.2038dup (p.Tyr680Leufs) duplication Pathogenic rs762705295 GRCh37 Chromosome 10, 78771791: 78771791
10 KCNMA1 NM_001014797.2(KCNMA1): c.2038dup (p.Tyr680Leufs) duplication Pathogenic rs762705295 GRCh38 Chromosome 10, 77012033: 77012033

Copy number variations for Cerebellar Atrophy, Developmental Delay, and Seizures from CNVD:

7 (show top 50) (show all 62)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 42289 10 31400000 34500000 Translocation Neurodevelopmental disorder
2 44658 10 61200000 64800000 Translocation ANK3 Neurodevelopmental disorder
3 45071 10 6700000 17300000 Translocation FAM107B Neurodevelopmental disorder
4 51157 11 123500000 127400000 Translocation KIRREL3 Neurodevelopmental disorder
5 53586 11 31000000 36400000 Translocation Neurodevelopmental disorder
6 54384 11 43400000 48800000 Translocation Neurodevelopmental disorder
7 64293 12 12600000 85100000 Inversion GRIN2B Neurodevelopmental disorder
8 65756 12 21200000 26300000 Translocation SOX5 Neurodevelopmental disorder
9 74663 13 110074168 110350829 Translocation PAK3 Neurodevelopmental disorder
10 79799 13 77800000 86500000 Translocation Neurodevelopmental disorder
11 83028 14 19100000 23600000 Translocation CHD8 Neurodevelopmental disorder
12 84106 10 30762871 30790767 Translocation EST Neurodevelopmental disorder
13 85228 14 41000000 43200000 Translocation Neurodevelopmental disorder
14 89766 15 19000000 33600000 Duplication Neurodevelopmental disorder
15 91411 X 152940457 153016382 Deletion MECP2 Neurodevelopmental disorder
16 97902 16 14700000 16700000 Deletion NDE1 Neurodevelopmental Syndrome
17 98911 16 21700000 27600000 Translocation Neurodevelopmental disorder
18 99621 16 27600000 34400000 Microduplication neurodevelopmental Syndrome
19 102740 16 56700000 65200000 Translocation Neurodevelopmental disorder
20 106835 17 1 3300000 Deletion Neurodevelopmental disorder
21 107576 17 16000000 22200000 Deletion Neurodevelopmental disorder
22 109392 17 25800000 31800000 Deletion Neurodevelopmental disorder
23 111432 17 3600000 6800000 Translocation NLRP1 Neurodevelopmental disorder
24 119293 18 10900000 15400000 Translocation C18orf1 Neurodevelopmental disorder
25 121720 18 46400000 52000000 Translocation TCF4 Neurodevelopmental disorder
26 124213 19 1 6900000 Translocation GTF2F1 Neurodevelopmental disorder
27 127258 19 30200000 37100000 Translocation ZNF507 Neurodevelopmental disorder
28 134327 2 1 4300000 Translocation Neurodevelopmental disorder
29 140385 2 197100000 203500000 Translocation SATB2 Neurodevelopmental disorder
30 144935 2 31900000 182700000 Inversion SPAST Neurodevelopmental disorder
31 145436 2 38400000 41600000 Translocation Neurodevelopmental disorder
32 161252 22 17900000 25900000 Deletion or duplicat ion Neurodevelopmental disorder
33 167443 3 118800000 120500000 Translocation Neurodevelopmental disorder
34 170389 3 153500000 156300000 Translocation MBNL1 Neurodevelopmental disorder
35 170572 3 156300000 158100000 Translocation Neurodevelopmental disorder
36 172151 3 177300000 180600000 Translocation Neurodevelopmental disorder
37 173417 3 193800000 199501827 Deletion Neurodevelopmental disorder
38 178371 3 71800000 74200000 Translocation FOXP1 Neurodevelopmental disorder
39 178908 3 81800000 118800000 Inversion ZBTB20 Neurodevelopmental disorder
40 198019 5 18500000 24700000 Inversion Neurodevelopmental disorder
41 201090 5 65300000 130400000 Translocation Neurodevelopmental disorder
42 204683 6 113900000 170899992 Inversion BET3L Neurodevelopmental disorder
43 204684 6 113900000 170899992 Inversion PDE10A Neurodevelopmental disorder
44 215985 6 84700000 87500000 Translocation Neurodevelopmental disorder
45 216424 6 92100000 98700000 Translocation MIR548H3 Neurodevelopmental disorder
46 216902 6 99900000 104800000 Translocation RTN4IP1 Neurodevelopmental disorder
47 217059 2 936554 1350391 Translocation SNTG2 Neurodevelopmental disorder
48 218782 7 117200000 120900000 Translocation KCND2 Neurodevelopmental disorder
49 219436 7 126900000 129000000 Translocation METTL2B Neurodevelopmental disorder
50 224632 7 35600000 37500000 Translocation LOC401324 Neurodevelopmental disorder

Expression for Cerebellar Atrophy, Developmental Delay, and Seizures

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

Pathways for Cerebellar Atrophy, Developmental Delay, and Seizures

GO Terms for Cerebellar Atrophy, Developmental Delay, and Seizures

Sources for Cerebellar Atrophy, Developmental Delay, and Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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