CADEDS
MCID: CRB169
MIFTS: 29

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 73 29 6
Cadeds 57 73
Neurodevelopmental Disorders 71

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 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 seizure disorder and paroxysmal dyskinesia. An important gene associated with Cerebellar Atrophy, Developmental Delay, and Seizures is KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1). The drugs Methamphetamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and colon, and related phenotypes are eeg abnormality and global developmental delay

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:

# Related Disease Score Top Affiliating Genes
1 seizure disorder 10.2
2 paroxysmal dyskinesia 10.2
3 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy 9.6 KCNMA1-AS1 KCNMA1
4 disease of mental health 9.5 KCNMA1-AS1 KCNMA1

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 eeg abnormality 31 HP:0002353
2 global developmental delay 31 HP:0001263
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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
5
Cyproheptadine Approved Phase 4 129-03-3 2913
6
Iron Approved Phase 4 7439-89-6 23925 29936
7
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
8
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
9
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
10
Ferrous fumarate Approved Phase 4 141-01-5
11
Copper Approved, Investigational Phase 4 7440-50-8 27099
12
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
13
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
14
Iodine Approved, Investigational Phase 4 7553-56-2 807
15
Tocopherol Approved, Investigational Phase 4 1406-66-2
16
Zinc Approved, Investigational Phase 4 7440-66-6 32051
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
18
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
19
Pantothenic acid Approved, Nutraceutical, Vet_approved Phase 4 79-83-4 6613
20
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
21
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
22
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
23
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
24
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
25
Beta carotene Approved, Nutraceutical Phase 4 7235-40-7 5280489
26
Biotin Approved, Investigational, Nutraceutical Phase 4 58-85-5 171548
27
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
28
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
29
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
30
Manganese Approved, Nutraceutical Phase 4 7439-96-5 27854
31
Cobalamin Experimental Phase 4 13408-78-1 6857388
32
Cadexomer iodine Experimental Phase 4 94820-09-4
33 Tocotrienol Investigational Phase 4 6829-55-6
34 Gastrointestinal Agents Phase 4
35 Dopamine Agents Phase 4
36 Dopamine Uptake Inhibitors Phase 4
37 Central Nervous System Stimulants Phase 4
38 Histamine Antagonists Phase 4
39
Histamine Phosphate Phase 4 51-74-1 65513
40 Dermatologic Agents Phase 4
41 Anti-Allergic Agents Phase 4
42 Histamine H1 Antagonists Phase 4
43 Trace Elements Phase 4
44 Micronutrients Phase 4
45 Vitamin B Complex Phase 4
46 Vitamin B 12 Phase 4
47 Vitamins Phase 4
48 Vitamin B12 Phase 4
49 Vitamin B9 Phase 4
50 Folate Phase 4

Interventional clinical trials:

(show top 50) (show all 126)
# 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 Prenatal Iodine Supplementation and Early Childhood Neurodevelopment Not yet recruiting NCT04586348 Phase 4
3 Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery on Peri-operative Outcomes and Neurocognitive Development in Infants: A Randomized Controlled Trial Unknown status NCT02559102 Phase 3 Dexmedetomidine sedation;General sevoflurane anaesthesia
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 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
6 6-Year Follow-up of a Prevention Program for Bereaved Families Completed NCT01008189 Phase 3
7 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
8 Choline Supplementation in Children With Fetal Alcohol Spectrum Disorders Completed NCT01911299 Phase 2
9 Postnatal Choline Supplementation in Children With Prenatal Alcohol Exposure Completed NCT01149538 Phase 1, Phase 2 Choline bitartrate
10 Neurocognitive Habilitation for Children With FAS/ARND Completed NCT00164346 Phase 1, Phase 2
11 A Trial of Prophylaxis for the PANDAS Subgroup Completed NCT00001359 Phase 2 Penicillin or Placebo
12 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
13 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
14 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
15 Intention-based Therapy for Autism Spectrum Disorder: Promising Results of a Wait-List Control Study in Children Completed NCT00503191 Phase 1
16 A Randomized, Investigator- /Subject-blind, Single- and Multiple-ascending Dose, Placebo-controlled Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 Following Oral Administration in Healthy Male Participants Recruiting NCT04475848 Phase 1 RO6953958;Placebo
17 Characterization of Ascending and Descending Auditory Processing Involved in the Encoding of Speech Sounds in Adult and Children: Variability Related to Changes in Sensory Input or a Neurodevelopmental Disorder or Targeted Remediation Unknown status NCT02574299
18 High Energy Formula Feeding in Infants With Congenital Heart Disease Unknown status NCT01850784
19 Development, Implementation, and Evaluation of an Internet-based Behavioural Sleep Intervention for Children With NDD and Insomnia Unknown status NCT02694003
20 Intrauterine Growth Restriction Has an Impact on Amplitude-integrated EEG in Preterm Infants Unknown status NCT01942525
21 Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial Unknown status NCT02871674
22 Longitudinal Family/Molecular Genetic Study to Validate Research Domain Criteria Unknown status NCT02415647
23 A Formative Study to Develop Culturally Valid Psychosocial Assessment Tools and Interventions to Promote Family Well-Being in Kenya - Part II Unknown status NCT03360201
24 Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers (GD-BRAIN) Unknown status NCT03032991
25 Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit - an Interprofessional Approach Unknown status NCT02912780
26 Paternal Involvement in Psychiatric Care of Adolescents Managed for Depression or Suicide Attempt Unknown status NCT03661008
27 Computer-Aided System for the Improvement of Nodule Detection and Characterization in Thoracic CT Based on a Novel Vessel Suppressed CT Volume Unknown status NCT02440139
28 Evaluation of Family Networks (FaNs) for Children With Developmental Disorders and Delays Program: A Cluster Randomized Control Trial Completed NCT02792894
29 KneuroKnits: Evaluating Social Participation and Anxiety Response Associated With Participation in a Knitting Group for People With Neurological Conditions (Pilot Study) Completed NCT04639570
30 Screening for Neurodevelopmental Disorders in Children With Congenital Heart Disease Aged From 6 to 66 Months in Nord-Pas-de-Calais Completed NCT03360370
31 Cognitive Enhancement Therapy for Adult Autism Spectrum Disorder Completed NCT00902798
32 A Prospective Study to Evaluate the Effectiveness of Thermalytix (AI-based Thermographic Solution Developed by Niramai) for Breast Cancer Screening as Compared to Standard Screening Modalities for Breast Cancer Completed NCT04688086
33 Iron Supplement Effect Over Immune System and Neurobehavioral Child Development. Completed NCT02690675
34 Validity of Neurocognitive Assessment Methods in Childhood ADHD Completed NCT04201509
35 Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge Completed NCT03229928
36 Pilot Study of "Let's Get Organized" - a Group Intervention for Improving Time Management Completed NCT03659279
37 A Feasibility Study to Determine the Acceptability and Impact of an Exercise Intervention for Children With Neurodevelopmental Difficulties and Sleep Problems Completed NCT04416789
38 A Small-step Program for Development of New Treatment Principles for Children With Cerebral Palsy and Other Neurodevelopmental Disorders Completed NCT02166801
39 Characterization of Potential Biomarkers to Assess Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment Completed NCT01364818
40 Mobile-based Games for Cognitive Training in Children With Neurodevelopmental Disorders Completed NCT04308915
41 CYP2D6 PHARMACOGENETICS IN RISPERIDONE-TREATED CHILDREN AND ADOLESCENTS WITH PSYCHIATRIC OR NEURODEVELOPMENTAL DISORDERS Completed NCT00783783
42 Changes in Motor Skill Proficiency After Equine-Assisted Activities and Brain-Building Tasks in Youth With Neurodevelopmental Disorders Completed NCT04158960
43 Proof of Concept Study of Vagus Nerve Stimulation Using an External Device for the Treatment of Behaviour Problems in People With Neurodevelopmental Disorders, Specifically Prader Willi Syndrome Completed NCT03689621
44 Using New Genetic Technology to Diagnose Neurodevelopmental Disorders Completed NCT02227381
45 Prevention of Child Mental Health Problems in Southeastern Europe - Adapt, Optimize, Test and Extend Parenting for Lifelong Health Completed NCT03552250
46 Measurement of Cardiometabolic Risk in Antipsychotic-Treated Children Completed NCT01222494
47 Investigating the Neuro-Cognitive Underpinnings of the Emotional Dysfunction Linked to Childhood Behavioral Disturbance Completed NCT00104039
48 Development of Education Materials for Prevention of Fetal Alcohol Syndrome (FAS) in Russia Completed NCT01971398
49 Trial of Psychosocial Training for Pediatric Generalists Completed NCT00070876
50 Genetic Aspects of Neurologic and Psychiatric Disorders Completed NCT00001544

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
Breast, Bone, Colon

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 57 6 61
29545233 2018
2
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures. 6 57 61
27567911 2016

Variations for Cerebellar Atrophy, Developmental Delay, and Seizures

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNMA1 NM_001161352.2(KCNMA1):c.2026dup (p.Tyr676fs) Duplication Pathogenic 437872 rs762705295 10:78771790-78771791 10:77012032-77012033
2 KCNMA1 NM_001161352.2(KCNMA1):c.1372C>T (p.Arg458Ter) SNV Pathogenic 691495 rs1328294721 10:78846314-78846314 10:77086556-77086556
3 KCNMA1 NM_001161352.2(KCNMA1):c.1699G>A (p.Gly567Ser) SNV Likely pathogenic 981162 10:78832905-78832905 10:77073147-77073147
4 KCNMA1 NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) SNV Uncertain significance 501214 rs142858967 10:79163700-79163700 10:77403942-77403942
5 KCNMA1-AS1 NM_001161352.2(KCNMA1):c.2660A>G (p.Lys887Arg) SNV Uncertain significance 626124 rs753684298 10:78708949-78708949 10:76949191-76949191

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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