CADEDS
MCID: CRB169
MIFTS: 36

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 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 paroxysmal dyskinesia and visual epilepsy. An important gene associated with Cerebellar Atrophy, Developmental Delay, and Seizures is KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1). The drugs Dopamine and Methamphetamine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 paroxysmal dyskinesia 30.2 KCNMA1-AS1 KCNMA1
2 visual epilepsy 29.1 TBR1 TBCK CLN5
3 arteries, anomalies of 10.5
4 hyperlipoproteinemia, type iii 10.5
5 coronary artery anomaly 10.5
6 dementia 10.2
7 adenoma 10.2
8 syncope 10.2
9 seizure disorder 10.1
10 hypotonia 9.2 TCF20 TBCK EBF3
11 alacrima, achalasia, and mental retardation syndrome 9.0 TCF20 TBR1 EBF3 BRPF1
12 pervasive developmental disorder 8.8 TCF20 TBR1 NTNG2

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 eeg abnormality 31 HP:0002353
2 global developmental delay 31 HP:0001263
3 generalized hypotonia 31 HP:0001290
4 poor speech 31 HP:0002465
5 generalized tonic-clonic seizures with focal onset 31 HP:0007334
6 cerebellar atrophy 31 HP:0001272

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 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Histamine Approved, Investigational Phase 4 51-45-6 774
5
Cyproheptadine Approved Phase 4 129-03-3 2913
6
Lovastatin Approved, Investigational Phase 4 75330-75-5 53232
7 Dopamine Agents Phase 4
8 Serotonin Agents Phase 4
9 Serotonin Antagonists Phase 4
10 Gastrointestinal Agents Phase 4
11 Hypolipidemic Agents Phase 4
12 Lipid Regulating Agents Phase 4
13 Antimetabolites Phase 4
14 Dopamine Uptake Inhibitors Phase 4
15 Central Nervous System Stimulants Phase 4
16 Histamine H1 Antagonists Phase 4
17 Antipruritics Phase 4
18 Histamine Antagonists Phase 4
19
Histamine Phosphate Phase 4 51-74-1 65513
20 Anti-Allergic Agents Phase 4
21 Anticholesteremic Agents Phase 4
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
23 Dihydromevinolin Phase 4
24 L 647318 Phase 4
25
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
26
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
27
Remifentanil Approved Phase 3 132875-61-7 60815
28
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
29
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
30
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
31
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
32 Tocotrienol Investigational Phase 3 6829-55-6
33 Pharmaceutical Solutions Phase 3
34 Tocopherols Phase 3
35 Tocotrienols Phase 3
36 Antioxidants Phase 3
37 Protective Agents Phase 3
38 Immunoglobulins Phase 3
39 Rho(D) Immune Globulin Phase 3
40 Antibodies Phase 3
41 Immunoglobulins, Intravenous Phase 3
42 Immunologic Factors Phase 3
43 gamma-Globulins Phase 3
44 Platelet Aggregation Inhibitors Phase 3
45 carnitine Phase 2, Phase 3
46
Citalopram Approved Phase 2 59729-33-8 2771
47
leucovorin Approved Phase 2 58-05-9 6006 143
48
Choline Approved, Nutraceutical Phase 1, Phase 2 62-49-7 305
49
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
50
Glycine Approved, Nutraceutical, Vet_approved Phase 2 56-40-6 750

Interventional clinical trials:

(show top 50) (show all 156)
# 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 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
9 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
10 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
11 Postnatal Choline Supplementation in Children With Prenatal Alcohol Exposure Completed NCT01149538 Phase 1, Phase 2 Choline bitartrate
12 Choline Supplementation in Children With Fetal Alcohol Spectrum Disorders Completed NCT01911299 Phase 2
13 Neurocognitive Habilitation for Children With FAS/ARND Completed NCT00164346 Phase 1, Phase 2
14 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
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 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
17 A Trial of Prophylaxis for the PANDAS Subgroup Completed NCT00001359 Phase 2 Penicillin or Placebo
18 Pilot Study of Glycine Augmentation in Carriers of a Mutation in the Gene Encoding Glycine Decarboxylase Completed NCT01720316 Phase 2 Glycine;placebo
19 Folate Rechallenge: A Pilot Study Completed NCT00672360 Phase 2
20 Effects of AFQ056 on Language Learning in Young Children With Fragile X Syndrome (FXS) Recruiting NCT02920892 Phase 2 AFQ056
21 Promotion of Maternal Gut Microbiota and Psychological Stimulation on Child Cognitive Development at 6 Months of Age Recruiting NCT03851120 Phase 2
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 Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial Unknown status NCT02871674
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 Paternal Involvement in Psychiatric Care of Adolescents Managed for Depression or Suicide Attempt Unknown status NCT03661008
32 Longitudinal Family/Molecular Genetic Study to Validate Research Domain Criteria Unknown status NCT02415647
33 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
34 The Development of Younger Siblings of Children With Autism Now at 10 Years of Age Unknown status NCT00695812
35 Neurobehavioural Development of Infants Born <30 Weeks Gestational Age and Their Parents Psychological Wellbeing Between Birth and Five Years of Age Unknown status NCT03172104
36 A Formative Study to Develop Culturally Valid Psychosocial Assessment Tools and Interventions to Promote Family Well-Being in Kenya - Part II Unknown status NCT03360201
37 Efficacy of a Partially Hydrolyzed Formula, Containing Lactobacillus Reuteri, for Infant Colic: a Double Blind, Randomized-controlled Trial Unknown status NCT02813772
38 Screening for Neurodevelopmental Disorders in Children With Congenital Heart Disease Aged From 6 to 66 Months in Nord-Pas-de-Calais Completed NCT03360370
39 CYP2D6 PHARMACOGENETICS IN RISPERIDONE-TREATED CHILDREN AND ADOLESCENTS WITH PSYCHIATRIC OR NEURODEVELOPMENTAL DISORDERS Completed NCT00783783
40 Evaluation of Family Networks (FaNs) for Children With Developmental Disorders and Delays Program: A Cluster Randomized Control Trial Completed NCT02792894
41 Characterization of Potential Biomarkers to Assess Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment Completed NCT01364818
42 Validity of Neurocognitive Assessment Methods in Childhood ADHD Completed NCT04201509
43 Pilot Study of "Let's Get Organized" - a Group Intervention for Improving Time Management Completed NCT03659279
44 Brain Plasticity Underlying Acquisition of New Organizational Skills in Children Completed NCT03148782
45 Using New Genetic Technology to Diagnose Neurodevelopmental Disorders Completed NCT02227381
46 Iron Supplement Effect Over Immune System and Neurobehavioral Child Development. Completed NCT02690675
47 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
48 Changes in Motor Skill Proficiency After Equine-Assisted Activities and Brain-Building Tasks in Youth With Neurodevelopmental Disorders Completed NCT04158960
49 Attention Deficit Hyperactivity Disorder Drugs Use Chronic Effects Completed NCT01470261
50 Trial of Psychosocial Training for Pediatric Generalists Completed NCT00070876

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

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:

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 61 56 6
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 top 50) (show all 113) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRPF1 NM_001003694.2(BRPF1):c.360_361AG[1] (p.Glu121fs)short repeat Pathogenic 375486 rs1057519511 3:9776184-9776185 3:9734500-9734501
2 EBF3 NM_001005463.3(EBF3):c.616C>T (p.Arg206Ter)SNV Pathogenic 375503 rs1057519522 10:131676052-131676052 10:129877788-129877788
3 TCF20 NM_005650.3(TCF20):c.1707del (p.Arg570fs)deletion Pathogenic 504312 rs1555926655 22:42609605-42609605 22:42213599-42213599
4 NKX2-1 NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)deletion Pathogenic 521085 rs1555349214 14:36987043-36987043 14:36517838-36517838
5 TCF20 NM_005650.3(TCF20):c.2224C>T (p.Arg742Ter)SNV Pathogenic 521787 rs1555926209 22:42609088-42609088 22:42213082-42213082
6 TCF20 NM_005650.3(TCF20):c.2088_2089del (p.Glu697fs)deletion Pathogenic 599636 rs1569150635 22:42609223-42609224 22:42213217-42213218
7 TCF20 NM_005650.3(TCF20):c.932_933del (p.Gln311fs)deletion Pathogenic 599637 rs1569153159 22:42610379-42610380 22:42214373-42214374
8 TCF20 NM_005650.3(TCF20):c.697C>T (p.Gln233Ter)SNV Pathogenic 599638 rs751610641 22:42610615-42610615 22:42214609-42214609
9 TCF20 NM_005650.3(TCF20):c.622del (p.Leu208fs)deletion Pathogenic 599639 rs1569153915 22:42610690-42610690 22:42214684-42214684
10 TCF20 NM_005650.3(TCF20):c.364dup (p.Gln122fs)duplication Pathogenic 599640 rs777979354 22:42610947-42610948 22:42214941-42214942
11 TCF20 NM_005650.3(TCF20):c.1960C>T (p.Gln654Ter)SNV Pathogenic 599641 rs1569150885 22:42609352-42609352 22:42213346-42213346
12 TCF20 NM_005650.3(TCF20):c.2155C>T (p.Arg719Ter)SNV Pathogenic 599642 rs1569150452 22:42609157-42609157 22:42213151-42213151
13 TCF20 NM_005650.3(TCF20):c.4739_4740AG[1] (p.Arg1581fs)short repeat Pathogenic 599643 rs1569144348 22:42606570-42606571 22:42210564-42210565
14 TCF20 NM_005650.3(TCF20):c.3486dup (p.Cys1163fs)duplication Pathogenic 599644 rs1569147315 22:42607825-42607826 22:42211819-42211820
15 TCF20 NM_005650.3(TCF20):c.2883C>G (p.Tyr961Ter)SNV Pathogenic 599645 rs1208949378 22:42608429-42608429 22:42212423-42212423
16 KCNMA1 NM_001161352.2(KCNMA1):c.2026dup (p.Tyr676fs)duplication Pathogenic 437872 rs762705295 10:78771790-78771791 10:77012032-77012033
17 TCF20 NM_005650.3(TCF20):c.4786C>T (p.Arg1596Ter)SNV Pathogenic 599647 rs1569144264 22:42606526-42606526 22:42210520-42210520
18 TBCK NM_001163435.3(TBCK):c.658+1G>ASNV Pathogenic 635859 4:107171574-107171574 4:106250417-106250417
19 subset of 23 genes: MAGEL2 , SNURF , UBE3A deletion Pathogenic 635870 15:23699983-28436313
20 covers 28 genes, none of which curated to show dosage sensitivity deletion Pathogenic 635875 12:53784698-54741363
21 C12orf65 NM_152269.5(C12orf65):c.-28-1489_283-968deldeletion Pathogenic 635867 12:123736705-123740392 12:123252158-123255845
22 covers 13 genes, none of which curated to show dosage sensitivity deletion Pathogenic 635876 15:30405535-32914190
23 ADCYAP1 , CETN1 , CLUL1 , COLEC12 , ENOSF1 , THOC1 , TYMS , TYMSOS , USP14 , YES1 deletion Pathogenic 635889 18:12774-1652788
24 subset of 26 genes: PRRT2 deletion Pathogenic 635890 16:29656717-30158469
25 covers 39 genes, none of which curated to show dosage sensitivity deletion Pathogenic 635891 18:62984563-78015117
26 CALCRL , FAM171B , FSIP2 , ITGAV , TFPI , ZC3H15 , ZSWIM2 deletion Pathogenic 635896 2:186356601-188906835
27 subset of 210 genes: BMPR2 , COL3A1 , PAX3 , SATB2 duplication Pathogenic 635897 2:188926928-225298653
28 CUL3 , DOCK10 , NYAP2 deletion Pathogenic 635898 2:225317517-226707110
29 subset of 47 genes: TBX1 deletion Pathogenic 635906 22:18890264-21540347
30 subset of 121 genes: CAMTA1 , GNB1 deletion Pathogenic 635907 1:554375-9779842
31 CLN5 NM_006493.4:c.679C>TSNV Pathogenic 635925
32 PNPT1 , SATB2 NM_033109.5:c.652A>TSNV Pathogenic 635926
33 covers 19 genes, none of which curated to show dosage sensitivity deletion Pathogenic 635933 4:171316973-180632505
34 subset of 180 genes: ANOS1 , AP1S2 , ARSL , ARX , BCOR , CASK , CDKL5 , CLCN4 , CNKSR2 , CYBB , DDX3X , DMD , FANCB , GK , HCCS , IL1RAPL1 , KDM6A , MAOA , MID1 , NDP , NHS , NLGN4X , NR0B1 , NYX , OFD1 , OTC , PDHA1 , PHEX , PIGA , PTCHD1 , RP2 , RPS6KA3 , RS1 , SMS , STS , TRAPPC2 , TSPAN7 , USP9X , ZNF674 deletion Pathogenic 635934 X:1-47140860
35 AGA , NEIL3 deletion Pathogenic 635946 4:178174991-178942685
36 FRG1 , FRG2 duplication Pathogenic 635958 4:190816609-191024533
37 subset of 27 genes: ELN deletion Pathogenic 635959 7:72699382-74142329
38 subset of 26 genes: ELN deletion Pathogenic 635960 7:72726590-74142329
39 KCNMA1 NM_001161352.2(KCNMA1):c.1372C>T (p.Arg458Ter)SNV Pathogenic 691495 10:78846314-78846314 10:77086556-77086556
40 NTNG2 NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr)SNV Pathogenic/Likely pathogenic 691559 9:135073381-135073381 9:132197994-132197994
41 NTNG2 NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly)SNV Pathogenic/Likely pathogenic 691556 9:135073458-135073458 9:132198071-132198071
42 NTNG2 NM_032536.4(NTNG2):c.446T>C (p.Met149Thr)SNV Pathogenic/Likely pathogenic 691560 9:135073585-135073585 9:132198198-132198198
43 NTNG2 NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp)SNV Pathogenic/Likely pathogenic 691558 9:135114501-135114501 9:132239114-132239114
44 NTNG2 NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr)SNV Pathogenic/Likely pathogenic 691555 9:135117272-135117272 9:132241885-132241885
45 TCF20 NM_005650.3(TCF20):c.5725C>T (p.His1909Tyr)SNV Pathogenic/Likely pathogenic 590780 rs1569110700 22:42575639-42575639 22:42179633-42179633
46 TBR1 NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs)short repeat Pathogenic/Likely pathogenic 224144 rs869312704 2:162280263-162280264 2:161423752-161423753
47 HK1 NM_033500.2(HK1):c.1216A>G (p.Lys406Glu)SNV Likely pathogenic 599646 rs1564557037 10:71139838-71139838 10:69380082-69380082
48 PNPT1 NM_033109.5(PNPT1):c.420del (p.Leu141fs)deletion Likely pathogenic 635856 2:55910953-55910953 2:55683818-55683818
49 NSD1 NM_022455.4(NSD1):c.6096G>C (p.Trp2032Cys)SNV Likely pathogenic 635855 5:176710874-176710874 5:177283873-177283873
50 ANKRD11 NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs)duplication Likely pathogenic 635858 16:89349064-89349065 16:89282656-89282657

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

7 (show top 50) (show all 62)
# CNVD ID Chromosome 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 duplication 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

Biological processes related to Cerebellar Atrophy, Developmental Delay, and Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 8.8 TBR1 NKX2-1 CLN5

Molecular functions related to Cerebellar Atrophy, Developmental Delay, and Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 8.92 TCF20 TBR1 NKX2-1 EBF3

Sources for Cerebellar Atrophy, Developmental Delay, and Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
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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