CADEDS
MCID: CRB169
MIFTS: 33

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 56 73 29 6
Cadeds 56 73
Neurodevelopmental Disorders 71

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
variable response to anti-epileptic drugs
three patients from 2 unrelated consanguineous middle eastern families have been reported (last curated september 2019)


HPO:

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


Classifications:



External Ids:

OMIM 56 617643
UMLS 71 C1535926

Summaries for Cerebellar Atrophy, Developmental Delay, and Seizures

UniProtKB/Swiss-Prot : 73 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 cadeds, is related to arteries, anomalies of and hyperlipoproteinemia, type iii. An important gene associated with Cerebellar Atrophy, Developmental Delay, and Seizures is KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1). The drugs Histamine and Methamphetamine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related phenotypes are global developmental delay and eeg abnormality

More information 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 all 11)
# Related Disease Score Top Affiliating Genes
1 arteries, anomalies of 10.5
2 hyperlipoproteinemia, type iii 10.5
3 lipoprotein quantitative trait locus 10.5
4 lung cancer 10.2
5 dementia 10.2
6 adenoma 10.2
7 syncope 10.2
8 visual epilepsy 10.1
9 seizure disorder 10.1
10 paroxysmal dyskinesia 10.1
11 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 9.4 KCNMA1-AS1 KCNMA1

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

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 eeg abnormality 31 HP:0002353
3 cerebellar atrophy 31 HP:0001272
4 generalized hypotonia 31 HP:0001290
5 poor speech 31 HP:0002465
6 bilateral tonic-clonic seizure with focal onset 31 HP:0007334

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
inability to walk
poor speech
abnormal eeg
delayed psychomotor development, severe
more
Head And Neck Head:
decline in head circumference with age

Muscle Soft Tissue:
hypotonia

Skeletal Limbs:
contractures of the large joints (patient a)

Clinical features from OMIM:

617643

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

Drugs for Cerebellar Atrophy, Developmental Delay, and Seizures (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 122)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 4 51-45-6 774
2
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Cyproheptadine Approved Phase 4 129-03-3 2913
5
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
6 Gastrointestinal Agents Phase 4
7 Dopamine Agents Phase 4
8 Central Nervous System Stimulants Phase 4
9 Anti-Allergic Agents Phase 4
10 Histamine Antagonists Phase 4
11
Histamine Phosphate Phase 4 51-74-1 65513
12 Histamine H1 Antagonists Phase 4
13
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
14
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
15
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
16
Remifentanil Approved Phase 3 132875-61-7 60815
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
18
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
19
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
20 Tocotrienol Investigational Phase 3 6829-55-6
21 Pharmaceutical Solutions Phase 3
22 Tocopherols Phase 3
23 Tocotrienols Phase 3
24 Protective Agents Phase 3
25 Antibodies Phase 3
26 Rho(D) Immune Globulin Phase 3
27 Immunoglobulins, Intravenous Phase 3
28 gamma-Globulins Phase 3
29 Immunologic Factors Phase 3
30 Immunoglobulins Phase 3
31 Platelet Aggregation Inhibitors Phase 3
32 carnitine Phase 2, Phase 3
33
Ethanol Approved Phase 1, Phase 2 64-17-5 702
34
Glycerol Approved, Investigational Phase 2 56-81-5 753
35
Citalopram Approved Phase 2 59729-33-8 2771
36
leucovorin Approved Phase 2 58-05-9 6006 143
37
Choline Approved, Nutraceutical Phase 1, Phase 2 62-49-7 305
38
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750
39
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
40
Sulforaphane Investigational Phase 2 142825-10-3, 4478-93-7 5350
41 Anti-Bacterial Agents Phase 2
42 penicillins Phase 2
43 Anti-Infective Agents Phase 2
44 Trace Elements Phase 2
45 Vitamins Phase 2
46 Micronutrients Phase 2
47 Vitamin B Complex Phase 2
48 Omega 3 Fatty Acid Phase 2
49 Sulforafan Phase 2
50 Antidepressive Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 175)
# Name Status NCT ID Phase Drugs
1 A Double-Blind Placebo-Controlled Study of Combination Therapy in Children With ADHD Completed NCT01940978 Phase 4 Methylphenidate ER;Cyproheptadine
2 Combining Lovastatin and a Parent-Implemented Language Intervention in a Multimodal Treatment for Fragile X Syndrome Completed NCT02642653 Phase 4 Lovastatin
3 Clinical Trials Phase III, Double Blind, Crossover to Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Unknown status NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
4 Phase III Clinical Trial of NPC-15 - Study of the Efficacy and Safety for Sleep Disorders of Children With Neurodevelopmental Disorders - Completed NCT02757079 Phase 3 NPC-15
5 A Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Circadin® to Alleviate Sleep Disturbances in Children With Neurodevelopmental Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
6 6-Year Follow-up of a Prevention Program for Bereaved Families Completed NCT01008189 Phase 3
7 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
8 Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery on Peri-operative Outcomes and Neurocognitive Development in Infants: A Randomized Controlled Trial Recruiting NCT02559102 Phase 3 Dexmedetomidine sedation;General sevoflurane anaesthesia
9 Neurodevelopmental Outcome After Standard Dose Sevoflurane Versus Low-dose Sevoflurane/Dexmedetomidine/Remifentanil Anaesthesia in Young Children- The TREX Trial Recruiting NCT03089905 Phase 3 Sevoflurane;Remifentanil;Dexmedetomidine
10 Promotion of Maternal Gut Microbiota and Psychological Stimulation on Child Cognitive Development at 6 Months of Age Recruiting NCT03851120 Phase 3
11 A Double-Blind, Controlled, Randomized Clinical Trial of the Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants Active, not recruiting NCT01783041 Phase 2, Phase 3 L-carnitine;5% Dextrose
12 Postnatal Choline Supplementation in Children With Prenatal Alcohol Exposure Completed NCT01149538 Phase 1, Phase 2 Choline bitartrate
13 Choline Supplementation in Children With Fetal Alcohol Spectrum Disorders Completed NCT01911299 Phase 2
14 Neurocognitive Habilitation for Children With FAS/ARND Completed NCT00164346 Phase 1, Phase 2
15 A Randomized, Placebo-Controlled Trial of Omega-3 Fatty Acids in the Treatment of Young Children With Autism Completed NCT01248728 Phase 2
16 A Phase II, Randomized, Double-blind, Placebo-controlled Study of Myrosinase-enriched Glucoraphanin, a Sulforaphane Precursor System, in Autism Spectrum Disorder Completed NCT02909959 Phase 2 Sulforaphane;Placebo
17 A Controlled Trial of Citalopram Added to Methylphenidate in Youth With Severe Mood Dysregulation Completed NCT00794040 Phase 2 Add-on citalopram following optimized methylphenidate;Add-on placebo following optimized methylphenidate
18 A Trial of Prophylaxis for the PANDAS Subgroup Completed NCT00001359 Phase 2 Penicillin or Placebo
19 Pilot Study of Glycine Augmentation in Carriers of a Mutation in the Gene Encoding Glycine Decarboxylase Completed NCT01720316 Phase 2 Glycine;placebo
20 Folate Rechallenge: A Pilot Study Completed NCT00672360 Phase 2
21 Effects of AFQ056 on Language Learning in Young Children With Fragile X Syndrome (FXS) Recruiting NCT02920892 Phase 2 AFQ056
22 A Study of Divalproex Sodium in Children With Autism Spectrum Disorder and Epileptiform EEG Withdrawn NCT01170325 Phase 2 Divalproex Sodium;Placebo Comparator
23 Open Label, Single Ascending Dose, Cross-over Study to Assess the Pharmacokinetics of Circadin® (Prolonged-Release Melatonin) Mini Tablets in Children With Neurodevelopmental Disorders and Sleep Disturbances Completed NCT01903681 Phase 1 Circadin 2 mg;Circadin 10 mg
24 Intention-based Therapy for Autism Spectrum Disorder: Promising Results of a Wait-List Control Study in Children Completed NCT00503191 Phase 1
25 Targeting Microglial Activation for Treatment of Autism Spectrum Disorder (ASD): A Proof-of-Concept, Target-Engagement Study Recruiting NCT03117530 Phase 1 Minocycline
26 Phase 1 Study of Intranasal Oxytocin on Parents' Behavioral and Physiological Responses to Children With Autism Withdrawn NCT01912378 Phase 1 Oxytocin;Placebo nasal spray
27 High Energy Formula Feeding in Infants With Congenital Heart Disease Unknown status NCT01850784
28 Gut Microbiome and Serum Metabolome Alterations in Attention-deficit/Hyperactivity Disorder Patients Unknown status NCT03447223
29 Intrauterine Growth Restriction Has an Impact on Amplitude-integrated EEG in Preterm Infants Unknown status NCT01942525
30 Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit - an Interprofessional Approach Unknown status NCT02912780
31 Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial Unknown status NCT02871674
32 Paternal Involvement in Psychiatric Care of Adolescents Managed for Depression or Suicide Attempt Unknown status NCT03661008
33 Study of the Strategies of Visual Perception of Social Scenes During Emotional States Induced to Subjects With an Intrusive Disorder of the Development: Pilot Study Unknown status NCT02827279
34 Longitudinal Family/Molecular Genetic Study to Validate Research Domain Criteria Unknown status NCT02415647
35 Possible Epigenetic Changes in Offspring of Women With Pregestational and Gestational Diabetes: Molecular Studies of the Placenta and Cord Blood and Possible Correlation to Postnatal Development. Unknown status NCT01255384
36 The Development of Younger Siblings of Children With Autism Now at 10 Years of Age Unknown status NCT00695812
37 Development, Implementation, and Evaluation of an Internet-based Behavioural Sleep Intervention for Children With NDD and Insomnia Unknown status NCT02694003
38 Neurobehavioural Development of Infants Born <30 Weeks Gestational Age and Their Parents Psychological Wellbeing Between Birth and Five Years of Age Unknown status NCT03172104
39 A Formative Study to Develop Culturally Valid Psychosocial Assessment Tools and Interventions to Promote Family Well-Being in Kenya - Part II Unknown status NCT03360201
40 Efficacy of a Partially Hydrolyzed Formula, Containing Lactobacillus Reuteri, for Infant Colic: a Double Blind, Randomized-controlled Trial Unknown status NCT02813772
41 Screening for Neurodevelopmental Disorders in Children With Congenital Heart Disease Aged From 6 to 66 Months in Nord-Pas-de-Calais Completed NCT03360370
42 Mobile-based Games for Cognitive Training in Children With Neurodevelopmental Disorders Completed NCT04308915
43 CYP2D6 PHARMACOGENETICS IN RISPERIDONE-TREATED CHILDREN AND ADOLESCENTS WITH PSYCHIATRIC OR NEURODEVELOPMENTAL DISORDERS Completed NCT00783783
44 Evaluation of Family Networks (FaNs) for Children With Developmental Disorders and Delays Program: A Cluster Randomized Control Trial Completed NCT02792894
45 Characterization of Potential Biomarkers to Assess Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment Completed NCT01364818
46 Validity of Neurocognitive Assessment Methods in Childhood ADHD Completed NCT04201509
47 Pilot Study of "Let's Get Organized" - a Group Intervention for Improving Time Management Completed NCT03659279
48 Brain Plasticity Underlying Acquisition of New Organizational Skills in Children Completed NCT03148782
49 Using New Genetic Technology to Diagnose Neurodevelopmental Disorders Completed NCT02227381
50 Iron Supplement Effect Over Immune System and Neurobehavioral Child Development. Completed NCT02690675

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

Genetic Tests for Cerebellar Atrophy, Developmental Delay, and Seizures

Genetic tests related to Cerebellar Atrophy, Developmental Delay, and Seizures:

# Genetic test Affiliating Genes
1 Cerebellar Atrophy, Developmental Delay, and Seizures 29 KCNMA1

Anatomical Context for Cerebellar Atrophy, Developmental Delay, and Seizures

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

40
Brain, Heart, Testes, Thyroid, Skin, Placenta

Publications for Cerebellar Atrophy, Developmental Delay, and Seizures

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

# Title Authors PMID Year
1
Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy 56 6 61
29545233 2018
2
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures. 61 56 6
27567911 2016

Variations for Cerebellar Atrophy, Developmental Delay, and Seizures

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

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF20 NM_005650.3(TCF20):c.2088_2089del (p.Glu697fs)deletion Pathogenic 599636 rs1569150635 22:42609223-42609224 22:42213217-42213218
2 TCF20 NM_005650.3(TCF20):c.932_933del (p.Gln311fs)deletion Pathogenic 599637 rs1569153159 22:42610379-42610380 22:42214373-42214374
3 TCF20 NM_005650.3(TCF20):c.697C>T (p.Gln233Ter)SNV Pathogenic 599638 rs751610641 22:42610615-42610615 22:42214609-42214609
4 TCF20 NM_005650.3(TCF20):c.622del (p.Leu208fs)deletion Pathogenic 599639 rs1569153915 22:42610690-42610690 22:42214684-42214684
5 TCF20 NM_005650.3(TCF20):c.364dup (p.Gln122fs)duplication Pathogenic 599640 rs777979354 22:42610947-42610948 22:42214941-42214942
6 TCF20 NM_005650.3(TCF20):c.1960C>T (p.Gln654Ter)SNV Pathogenic 599641 rs1569150885 22:42609352-42609352 22:42213346-42213346
7 TCF20 NM_005650.3(TCF20):c.2155C>T (p.Arg719Ter)SNV Pathogenic 599642 rs1569150452 22:42609157-42609157 22:42213151-42213151
8 TCF20 NM_005650.3(TCF20):c.4739_4740AG[1] (p.Arg1581fs)short repeat Pathogenic 599643 rs1569144348 22:42606570-42606571 22:42210564-42210565
9 TCF20 NM_005650.3(TCF20):c.3486dup (p.Cys1163fs)duplication Pathogenic 599644 rs1569147315 22:42607825-42607826 22:42211819-42211820
10 TCF20 NM_005650.3(TCF20):c.2883C>G (p.Tyr961Ter)SNV Pathogenic 599645 rs1208949378 22:42608429-42608429 22:42212423-42212423
11 KCNMA1 NM_001161352.2(KCNMA1):c.2026dup (p.Tyr676fs)duplication Pathogenic 437872 rs762705295 10:78771790-78771791 10:77012032-77012033
12 TCF20 NM_005650.3(TCF20):c.1707del (p.Arg570fs)deletion Pathogenic 504312 rs1555926655 22:42609605-42609605 22:42213599-42213599
13 TCF20 NM_005650.3(TCF20):c.2224C>T (p.Arg742Ter)SNV Pathogenic 521787 rs1555926209 22:42609088-42609088 22:42213082-42213082
14 TCF20 NM_005650.3(TCF20):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 599647 rs1569144264 22:42606526-42606526 22:42210520-42210520
15 KCNMA1 NM_001161352.2(KCNMA1):c.1372C>T (p.Arg458Ter)SNV Pathogenic 691495 10:78846314-78846314 10:77086556-77086556
16 TCF20 NM_005650.3(TCF20):c.5725C>T (p.His1909Tyr)SNV Pathogenic/Likely pathogenic 590780 rs1569110700 22:42575639-42575639 22:42179633-42179633
17 HK1 NM_033500.2(HK1):c.1216A>G (p.Lys406Glu)SNV Likely pathogenic 599646 rs1564557037 10:71139838-71139838 10:69380082-69380082
18 AIMP2 NM_006303.4(AIMP2):c.105C>A (p.Tyr35Ter)SNV Conflicting interpretations of pathogenicity 428589 rs529613640 7:6049099-6049099 7:6009468-6009468
19 KCNMA1 NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg)SNV Uncertain significance 626124 rs753684298 10:78708949-78708949 10:76949191-76949191
20 CERT1 NM_001130105.1(CERT1):c.223_233del (p.Arg75fs)deletion Uncertain significance 689370 5:74807184-74807194 5:75511359-75511369
21 subset of 43 genes: PAFAH1B1 GRCh37/hg19 17p13.3(chr17:1-2538512)x4,5copy number gain Uncertain significance 544685 17:1-2538512
22 KCNMA1 NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser)SNV Uncertain significance 501214 rs142858967 10:79163700-79163700 10:77403942-77403942

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

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 97902 16 14700000 16700000 Deletion NDE1 Neurodevelopmental Syndrome
2 99621 16 27600000 34400000 Microduplication neurodevelopmental Syndrome

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
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10 dbSNP
11 DGIdb
17 EFO
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33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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