ACOGS
MCID: AGN018
MIFTS: 58

Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome (ACOGS)

Categories: Genetic diseases, Neuronal diseases, Reproductive diseases

Aliases & Classifications for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

MalaCards integrated aliases for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome:

Name: Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 72 6
Acogs 57 72
Neurodevelopmental Disorders 44
Neurodevelopmental Disorder 17

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
phenotypic variability

Inheritance:
autosomal dominant


HPO:

31
agenesis of corpus callosum, cardiac, ocular, and genital syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

OMIM® : 57 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies (Accogli et al., 2019). (618929) (Updated 20-May-2021)

MalaCards based summary : Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome, also known as acogs, is related to alacrima, achalasia, and mental retardation syndrome and white-sutton syndrome. An important gene associated with Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome is CDH2 (Cadherin 2). The drugs Methylphenidate and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and eye, and related phenotypes are macrocephaly and intellectual disability

UniProtKB/Swiss-Prot : 72 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome: An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies.

Related Diseases for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

Diseases related to Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 822)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 31.9 ZNF292 SYNGAP1 MYT1L CUX1 CHD3 BRPF1
2 white-sutton syndrome 31.8 ASXL3 AHDC1
3 disease of mental health 30.8 ZNF292 SYNGAP1 MYT1L CUX1 CHD3 CDH2
4 autosomal dominant non-syndromic intellectual disability 30.2 TAOK1 SYNGAP1 MYT1L CUX1 AHDC1
5 periventricular nodular heterotopia 29.9 CUX1 CDH2 CDC42
6 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.6
7 neurodevelopmental disorder with severe motor impairment and absent language 11.6
8 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 11.5
9 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 11.5
10 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 11.5
11 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.5
12 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 11.5
13 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 11.5
14 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 11.5
15 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 11.5
16 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 11.5
17 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 11.5
18 baker-gordon syndrome 11.5
19 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 11.5
20 neurodevelopmental disorder with hypotonia, seizures, and absent language 11.5
21 neurodevelopmental disorder with visual defects and brain anomalies 11.5
22 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 11.5
23 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 11.5
24 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 11.5
25 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 11.5
26 smith-kingsmore syndrome 11.5
27 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 11.5
28 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 11.5
29 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 11.4
30 neurodevelopmental disorder with seizures and speech and walking impairment 11.4
31 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 11.4
32 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 11.4
33 neurodevelopmental disorder with involuntary movements 11.4
34 neurodevelopmental disorder with midbrain and hindbrain malformations 11.4
35 neurodevelopmental disorder with or without seizures and gait abnormalities 11.4
36 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 11.4
37 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 11.4
38 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 11.4
39 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 11.4
40 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 11.4
41 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 11.4
42 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 11.4
43 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.4
44 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 11.4
45 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 11.4
46 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 11.4
47 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 11.4
48 neurodevelopmental disorder with absent language and variable seizures 11.4
49 neurodevelopmental disorder with central and peripheral motor dysfunction 11.4
50 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 11.4

Graphical network of the top 20 diseases related to Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome:



Diseases related to Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome

Symptoms & Phenotypes for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

Human phenotypes related to Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 intellectual disability 31 very rare (1%) HP:0001249
3 agenesis of corpus callosum 31 very rare (1%) HP:0001274
4 frontal bossing 31 very rare (1%) HP:0002007
5 high palate 31 very rare (1%) HP:0000218
6 self-injurious behavior 31 very rare (1%) HP:0100716
7 global developmental delay 31 very rare (1%) HP:0001263
8 depressed nasal bridge 31 very rare (1%) HP:0005280
9 hypertelorism 31 very rare (1%) HP:0000316
10 smooth philtrum 31 very rare (1%) HP:0000319
11 prominent forehead 31 very rare (1%) HP:0011220
12 strabismus 31 very rare (1%) HP:0000486
13 cryptorchidism 31 very rare (1%) HP:0000028
14 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
15 low-set ears 31 very rare (1%) HP:0000369
16 anxiety 31 very rare (1%) HP:0000739
17 low posterior hairline 31 very rare (1%) HP:0002162
18 coarctation of aorta 31 very rare (1%) HP:0001680
19 sprengel anomaly 31 very rare (1%) HP:0000912
20 downslanted palpebral fissures 31 very rare (1%) HP:0000494
21 micropenis 31 very rare (1%) HP:0000054
22 thin upper lip vermilion 31 very rare (1%) HP:0000219
23 long philtrum 31 very rare (1%) HP:0000343
24 deeply set eye 31 very rare (1%) HP:0000490
25 short philtrum 31 very rare (1%) HP:0000322
26 telecanthus 31 very rare (1%) HP:0000506
27 pointed chin 31 very rare (1%) HP:0000307
28 broad forehead 31 very rare (1%) HP:0000337
29 thickened helices 31 very rare (1%) HP:0000391
30 synophrys 31 very rare (1%) HP:0000664
31 infantile spasms 31 very rare (1%) HP:0012469
32 dextrocardia 31 very rare (1%) HP:0001651
33 atrioventricular canal defect 31 very rare (1%) HP:0006695
34 focal impaired awareness seizure 31 very rare (1%) HP:0002384
35 supernumerary nipple 31 very rare (1%) HP:0002558
36 posteriorly rotated ears 31 very rare (1%) HP:0000358
37 delayed gross motor development 31 very rare (1%) HP:0002194
38 autistic behavior 31 very rare (1%) HP:0000729
39 tricuspid regurgitation 31 very rare (1%) HP:0005180
40 auditory hallucinations 31 very rare (1%) HP:0008765
41 impulsivity 31 very rare (1%) HP:0100710
42 peters anomaly 31 very rare (1%) HP:0000659
43 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
44 bimanual synkinesia 31 very rare (1%) HP:0001335
45 enlarged cisterna magna 31 very rare (1%) HP:0002280
46 periventricular heterotopia 31 very rare (1%) HP:0007165
47 delayed fine motor development 31 very rare (1%) HP:0010862
48 interhemispheric cyst 31 very rare (1%) HP:0032327
49 interhypothalamic adhesion 31 very rare (1%) HP:0033105

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly
low posterior hairline
low anterior hairline

Head And Neck Eyes:
nystagmus
hypertelorism
strabismus
myopia
astigmatism
more
Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nares
flat nasal bridge
broad nasal root

Abdomen External Features:
umbilical hernia

Head And Neck Neck:
webbed neck

Skin Nails Hair Hair:
low posterior hairline
low anterior hairline
facial hypertrichosis
double hair whorls at vertex

Cardiovascular Heart:
dextrocardia
atrioventricular canal defect
tricuspid regurgitation

Head And Neck Mouth:
thin upper lip
small mouth
high narrow palate

Chest Ribs Sternum Clavicles And Scapulae:
sprengel deformity
short scapula
absence of shoulder muscles

Genitourinary Internal Genitalia Male:
cryptorchidism, unilateral or bilateral

Head And Neck Face:
frontal bossing
smooth philtrum
prominent forehead
micrognathia
long philtrum
more
Neurologic Central Nervous System:
hydrocephalus
global developmental delay
absent septum pellucidum
infantile spasms
hyposmia
more
Genitourinary External Genitalia Male:
inguinal hernia
micropenis

Head And Neck Ears:
low-set ears
posteriorly rotated ears
sensorineural hearing loss
attached earlobes
thick helices
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
auditory hallucinations
impulsivity
mood swings
attention-deficit/hyperactivity disorder
more
Chest External Features:
pectus excavatum

Chest Breasts:
supernumerary nipple
widely spaced nipples

Cardiovascular Vascular:
coarctation of the aorta
hypoplasia of aortic arch
hypoplasia of right pulmonary artery

Skin Nails Hair Skin:
aplasia cutis congenita of vertex

Clinical features from OMIM®:

618929 (Updated 20-May-2021)

Drugs & Therapeutics for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

Drugs for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 148)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
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
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
8
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
9
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
10
Ferrous fumarate Approved Phase 4 141-01-5
11
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
12
Copper Approved, Investigational Phase 4 7440-50-8 27099
13
Tocopherol Approved, Investigational Phase 4 1406-66-2
14
Iodine Approved, Investigational Phase 4 7553-56-2 807
15
Zinc Approved, Investigational Phase 4 7440-66-6 32051
16
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
17
Labetalol Approved Phase 4 36894-69-6 3869
18
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
19
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
20
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
21
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
23
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
24
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
25
Manganese Approved, Nutraceutical Phase 4 7439-96-5 27854
26
Pantothenic acid Approved, Nutraceutical, Vet_approved Phase 4 79-83-4 6613
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
28
Beta carotene Approved, Nutraceutical Phase 4 7235-40-7 5280489
29
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
30
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
31
Biotin Approved, Investigational, Nutraceutical Phase 4 58-85-5 171548
32
Cobalamin Experimental Phase 4 13408-78-1 6857388
33 Tocotrienol Investigational Phase 4 6829-55-6
34
Cadexomer iodine Experimental Phase 4 94820-09-4
35 Central Nervous System Stimulants Phase 4
36 Dopamine Agents Phase 4
37 Dopamine Uptake Inhibitors Phase 4
38 Gastrointestinal Agents Phase 4
39 Anti-Allergic Agents Phase 4
40 Histamine Antagonists Phase 4
41
Histamine Phosphate Phase 4 51-74-1 65513
42 Dermatologic Agents Phase 4
43 Histamine H1 Antagonists Phase 4
44 Micronutrients Phase 4
45 Trace Elements Phase 4
46 Nutrients Phase 4
47 Vitamin B12 Phase 4
48 Vitamin B 12 Phase 4
49 Folate Phase 4
50 Vitamin B Complex Phase 4

Interventional clinical trials:

(show top 50) (show all 143)
# 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 Lifestyle Intervention to Limit Excessive Weight Gain During Pregnancy in Minority Women Completed NCT01084941 Phase 4
3 Prenatal Iodine Supplementation and Early Childhood Neurodevelopment Not yet recruiting NCT04586348 Phase 4
4 A Prospective Randomized Clinical Research Trial Comparing the Incidence of Preeclampsia Between Pregnant Women Receiving Tdap Vaccinations at Week 28 and Those Receiving Tdap Vaccinations at Week 36 Not yet recruiting NCT04424693 Phase 4 Tdap Vaccine Administration
5 Acute Control of Chronic Hypertension in Preeclampsia Terminated NCT03877692 Phase 4 Experimental dosing of labetalol
6 Acute Labetalol Use in Preeclampsia Randomized Trial Terminated NCT03872336 Phase 4 Experimental labetalol dose
7 Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery on Peri-operative Outcomes and Neurocognitive Development in Infants: A Randomized Controlled Trial Completed NCT02559102 Phase 3 Dexmedetomidine sedation;General sevoflurane anaesthesia
8 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
9 6-Year Follow-up of a Prevention Program for Bereaved Families Completed NCT01008189 Phase 3
10 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
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 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
13 Choline Supplementation in Children With Fetal Alcohol Spectrum Disorders Completed NCT01911299 Phase 2
14 Postnatal Choline Supplementation in Children With Prenatal Alcohol Exposure Completed NCT01149538 Phase 1, Phase 2 Choline bitartrate
15 Neurocognitive Habilitation for Children With FAS/ARND Completed NCT00164346 Phase 1, Phase 2
16 A Trial of Prophylaxis for the PANDAS Subgroup Completed NCT00001359 Phase 2 Penicillin or Placebo
17 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
18 Influence of Physical Exercise on Endothelial Function in Pregnant Women: Randomized Clinical Trial Completed NCT00741312 Phase 1, Phase 2
19 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
20 Intention-based Therapy for Autism Spectrum Disorder: Promising Results of a Wait-List Control Study in Children Completed NCT00503191 Phase 1
21 Effect of Regular Exercise in Prevention of Excessive Weight Gain in Pregnancy. A Single Blind Randomized Controlled Trial Completed NCT00617149 Phase 1
22 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
23 Development, Implementation, and Evaluation of an Internet-based Behavioural Sleep Intervention for Children With NDD and Insomnia Unknown status NCT02694003
24 Longitudinal Family/Molecular Genetic Study to Validate Research Domain Criteria Unknown status NCT02415647
25 Paternal Involvement in Psychiatric Care of Adolescents Managed for Depression or Suicide Attempt Unknown status NCT03661008
26 Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial Unknown status NCT02871674
27 Intrauterine Growth Restriction Has an Impact on Amplitude-integrated EEG in Preterm Infants Unknown status NCT01942525
28 A Formative Study to Develop Culturally Valid Psychosocial Assessment Tools and Interventions to Promote Family Well-Being in Kenya - Part II Unknown status NCT03360201
29 Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit - an Interprofessional Approach Unknown status NCT02912780
30 High Energy Formula Feeding in Infants With Congenital Heart Disease Unknown status NCT01850784
31 Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers (GD-BRAIN) Unknown status NCT03032991
32 A Customized Low Glycaemic-index (GI) Diet, Introduced at First Trimester of Pregnancy by Both Gynecologist and Dietitian, Prevents Large for Gestational Age (LGA) Newborns in Overweight/Obese Pregnant Women Unknown status NCT02750774
33 Evaluation of Family Networks (FaNs) for Children With Developmental Disorders and Delays Program: A Cluster Randomized Control Trial Completed NCT02792894
34 Anxiety Disorders in Children - Association With Neurodevelopmental Delay/Disorder and Temperament/Personality. A Clinical Case-control Study Completed NCT00553085
35 Follow up of Increased Nuchal Translucency :Study of 2010 to 2018 of Limoges Hospital Completed NCT04028453
36 Cognitive Enhancement Therapy for Adult Autism Spectrum Disorder Completed NCT00902798
37 KneuroKnits: Evaluating Social Participation and Anxiety Response Associated With Participation in a Knitting Group for People With Neurological Conditions (Pilot Study) Completed NCT04639570
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 Pilot Study of "Let's Get Organized" - a Group Intervention for Improving Time Management Completed NCT03659279
40 A Feasibility Study to Determine the Acceptability and Impact of an Exercise Intervention for Children With Neurodevelopmental Difficulties and Sleep Problems Completed NCT04416789
41 Validity of Neurocognitive Assessment Methods in Childhood ADHD Completed NCT04201509
42 Iron Supplement Effect Over Immune System and Neurobehavioral Child Development. Completed NCT02690675
43 Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge Completed NCT03229928
44 Mobile-based Games for Cognitive Training in Children With Neurodevelopmental Disorders Completed NCT04308915
45 Characterization of Potential Biomarkers to Assess Brain Connectivity in Neurodevelopmental Disorders in Response to Treatment Completed NCT01364818
46 CYP2D6 PHARMACOGENETICS IN RISPERIDONE-TREATED CHILDREN AND ADOLESCENTS WITH PSYCHIATRIC OR NEURODEVELOPMENTAL DISORDERS Completed NCT00783783
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 Using New Genetic Technology to Diagnose Neurodevelopmental Disorders Completed NCT02227381
50 A Small-step Program for Development of New Treatment Principles for Children With Cerebral Palsy and Other Neurodevelopmental Disorders Completed NCT02166801

Search NIH Clinical Center for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome

Cochrane evidence based reviews: neurodevelopmental disorders

Genetic Tests for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

Anatomical Context for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

MalaCards organs/tissues related to Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome:

40
Brain, Cortex, Eye, Prefrontal Cortex, Amygdala, Heart, Cerebellum

Publications for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

Articles related to Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome:

(show top 50) (show all 6768)
# Title Authors PMID Year
1
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. 6 57
31650526 2020
2
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. 57 6
31585109 2019
3
Mutation analysis of B3GALTL in Peters Plus syndrome. 6 57
18798333 2008
4
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. 61 6
31723249 2020
5
Paralog Studies Augment Gene Discovery: DDX and DHX Genes. 61 6
31256877 2019
6
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. 6 61
30057029 2018
7
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 6
31616000 2019
8
Bain type of X-linked syndromic mental retardation in boys. 6
30887513 2019
9
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development. 57
30796522 2019
10
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. 6
30194818 2018
11
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. 6
29394990 2018
12
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. 6
27513193 2017
13
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. 6
27545675 2016
14
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6
27108799 2016
15
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 6
25485910 2015
16
ZFHX4 interacts with the NuRD core member CHD4 and regulates the glioblastoma tumor-initiating cell state. 6
24440720 2014
17
Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. 6
21802062 2011
18
A glycine-rich domain of hnRNP H/F promotes nucleocytoplasmic shuttling and nuclear import through an interaction with transportin 1. 6
20308327 2010
19
A homeodomain-zinc finger protein, ZFHX4, is expressed in neuronal differentiation manner and suppressed in muscle differentiation manner. 6
16946494 2006
20
Molecular basis for interactions of G protein betagamma subunits with effectors. 6
9596582 1998
21
Decidual cells are the initial target of polyriboinosinic-polyribocytidylic acid in a mouse model of maternal viral infection. 61
33732901 2021
22
Ultrasonic vocalizations in mice: relevance for ethologic and neurodevelopmental disorders studies. 61
33269765 2021
23
Role of PKA/CREB/BDNF signaling in PM2.5-induced neurodevelopmental damage to the hippocampal neurons of rats. 61
33640725 2021
24
Parental ADHD in pregnancy and the postpartum period - A systematic review. 61
33516734 2021
25
The conserved alternative splicing factor caper regulates neuromuscular phenotypes during development and aging. 61
33508255 2021
26
Sex differences in neurodevelopmental disorders. 61
33792030 2021
27
Inhibitory control and impulsive responses in neurodevelopmental disorders. 61
33340369 2021
28
The postnatal GABA shift: A developmental perspective. 61
33549742 2021
29
Inducible uniparental chromosome disomy to probe genomic imprinting at single-cell level in brain and beyond. 61
33600873 2021
30
Forebrain expression of serine racemase during postnatal development. 61
33592203 2021
31
LPIAT1/MBOAT7 contains a catalytic dyad transferring polyunsaturated fatty acids to lysophosphatidylinositol. 61
33513444 2021
32
Stem cell therapies in cerebral palsy and autism spectrum disorder. 61
33398874 2021
33
Elementary visuospatial perception deficit in children with neurodevelopmental disorders. 61
33314050 2021
34
Effects and mechanisms of phthalates' action on neurological processes and neural health: a literature review. 61
33460007 2021
35
Internalizing and neurodevelopmental problems in young people: Educational outcomes in a large population-based cohort of twins. 61
33596506 2021
36
Poor glycaemic control is associated with increased risk of neurodevelopmental disorders in childhood-onset type 1 diabetes: a population-based cohort study. 61
33454829 2021
37
Adult glut3 homozygous null mice survive to demonstrate neural excitability and altered neurobehavioral responses reminiscent of neurodevelopmental disorders. 61
33482226 2021
38
Predictors of ADHD persistence in elementary school children who were assessed in earlier grades: A prospective cohort study from Istanbul, Turkey. 61
33349455 2021
39
Gender-specific approach in psychiatric diseases: Because sex matters. 61
33508283 2021
40
Restless sleep in children: A systematic review. 61
33341437 2021
41
Influence of the disordered domain structure of MeCP2 on its structural stability and dsDNA interaction. 61
33548325 2021
42
GNAO1 mutation-related severe involuntary movements treated with gabapentin. 61
33358199 2021
43
Visuospatial deficit in neurodevelopmental disorders: what's in a name? 61
33521951 2021
44
Screening for neurodevelopmental disorders in children with congenital heart disease. 61
33119792 2021
45
Flexible Stoichiometry: Implications for KCNQ2- and KCNQ3-Associated Neurodevelopmental Disorders. 61
33794528 2021
46
Author Correction: Sodium channelopathies in neurodevelopmental disorders. 61
33686192 2021
47
Expression Analyses of Mediator Complex Subunit 13-Like: A Responsible Gene for Neurodevelopmental Disorders during Mouse Brain Development. 61
33794529 2021
48
A Role for Vasoactive Intestinal Peptide Interneurons in Neurodevelopmental Disorders. 61
33794534 2021
49
Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature. 61
33111303 2021
50
Germ cell mosaicism for AUTS2 exon 6 deletion. 61
33577136 2021

Variations for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

ClinVar genetic disease variations for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome:

6 (show top 50) (show all 534)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AHDC1 NM_001371928.1(AHDC1):c.808_811del (p.Glu270fs) Deletion Pathogenic 984537 GRCh37: 1:27877816-27877819
GRCh38: 1:27551305-27551308
2 SETD5 NM_001080517.3(SETD5):c.2807_2809delinsAA (p.Leu936fs) Indel Pathogenic 984543 GRCh37: 3:9512225-9512227
GRCh38: 3:9470541-9470543
3 DDX3X NM_001356.5(DDX3X):c.1601_1611del (p.Arg534fs) Deletion Pathogenic 984544 GRCh37: X:41205859-41205869
GRCh38: X:41346606-41346616
4 SMG9 NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter) SNV Pathogenic 984562 GRCh37: 19:44237811-44237811
GRCh38: 19:43733659-43733659
5 MSL3 NM_078629.4(MSL3):c.1171+1G>A SNV Pathogenic 984579 GRCh37: X:11783849-11783849
GRCh38: X:11765730-11765730
6 MYT1L NM_001303052.2(MYT1L):c.2188del (p.His730fs) Deletion Pathogenic 984602 GRCh37: 2:1895904-1895904
GRCh38: 2:1892132-1892132
7 KDM6B NM_001348716.2(KDM6B):c.403C>T (p.Arg135Ter) SNV Pathogenic 984608 GRCh37: 17:7749562-7749562
GRCh38: 17:7846244-7846244
8 PRMT7 NM_019023.4(PRMT7):c.1056-1G>T SNV Pathogenic 266024 rs201824659 GRCh37: 16:68380047-68380047
GRCh38: 16:68346144-68346144
9 PRMT7 NM_019023.5(PRMT7):c.148C>T (p.Gln50Ter) SNV Pathogenic 984615 GRCh37: 16:68358601-68358601
GRCh38: 16:68324698-68324698
10 BAZ2B NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter) SNV Pathogenic 224124 rs767318278 GRCh37: 2:160310216-160310216
GRCh38: 2:159453705-159453705
11 BAZ2B NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter) SNV Pathogenic 800361 rs780189423 GRCh37: 2:160303361-160303361
GRCh38: 2:159446850-159446850
12 BAZ2B NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr) SNV Pathogenic 800362 rs1576949430 GRCh37: 2:160287442-160287442
GRCh38: 2:159430931-159430931
13 BAZ2B NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val) SNV Pathogenic 800363 rs1575883384 GRCh37: 2:160205619-160205619
GRCh38: 2:159349108-159349108
14 ASXL1 NM_015338.6(ASXL1):c.3583dup (p.Gln1195fs) Duplication Pathogenic 984623 GRCh37: 20:31024095-31024096
GRCh38: 20:32436292-32436293
15 SATB2 , PNPT1 NM_033109.5:c.652A>T SNV Pathogenic 635926 GRCh37:
GRCh38:
16 KMT2C NM_170606.3(KMT2C):c.8649del (p.Arg2884fs) Deletion Pathogenic 984613 GRCh37: 7:151873889-151873889
GRCh38: 7:152176804-152176804
17 AHDC1 NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs) Duplication Pathogenic 816930 rs1064797043 GRCh37: 1:27876868-27876869
GRCh38: 1:27550357-27550358
18 NARS1 NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter) SNV Pathogenic 982711 GRCh37: 18:55268931-55268931
GRCh38: 18:57601699-57601699
19 overlap with 28 genes Deletion Pathogenic 635875 GRCh37: 12:53784698-54741363
GRCh38:
20 overlap with 13 genes Deletion Pathogenic 635876 GRCh37: 15:30405535-32914190
GRCh38:
21 overlap with 26 genes Deletion Pathogenic 635890 GRCh37: 16:29656717-30158469
GRCh38:
22 overlap with 7 genes Deletion Pathogenic 635896 GRCh37: 2:186356601-188906835
GRCh38:
23 overlap with 3 genes Deletion Pathogenic 635898 GRCh37: 2:225317517-226707110
GRCh38:
24 overlap with 19 genes Deletion Pathogenic 635933 GRCh37: 4:171316973-180632505
GRCh38:
25 overlap with 2 genes Duplication Pathogenic 635958 GRCh37: 4:190816609-191024533
GRCh38:
26 overlap with 27 genes Deletion Pathogenic 635959 GRCh37: 7:72699382-74142329
GRCh38:
27 overlap with 26 genes Deletion Pathogenic 635960 GRCh37: 7:72726590-74142329
GRCh38:
28 overlap with 3 genes GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1 copy number loss Pathogenic 800359 GRCh37: 2:160076188-160537539
GRCh38:
29 overlap with 3 genes GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1 copy number loss Pathogenic 800360 GRCh37: 2:160076188-160276186
GRCh38:
30 TBCK NM_001163435.3(TBCK):c.658+1G>A SNV Pathogenic 635859 rs1579395680 GRCh37: 4:107171574-107171574
GRCh38: 4:106250417-106250417
31 overlap with 2 genes Deletion Pathogenic 635946 GRCh37: 4:178174991-178942685
GRCh38:
32 TCF20 NM_005650.3(TCF20):c.2088_2089del (p.Glu697fs) Deletion Pathogenic 599636 rs1569150635 GRCh37: 22:42609223-42609224
GRCh38: 22:42213217-42213218
33 TCF20 NM_005650.3(TCF20):c.932_933del (p.Gln311fs) Deletion Pathogenic 599637 rs1569153159 GRCh37: 22:42610379-42610380
GRCh38: 22:42214373-42214374
34 TCF20 NM_005650.3(TCF20):c.622del (p.Leu208fs) Deletion Pathogenic 599639 rs1569153915 GRCh37: 22:42610690-42610690
GRCh38: 22:42214684-42214684
35 TCF20 NM_005650.3(TCF20):c.364dup (p.Gln122fs) Duplication Pathogenic 599640 rs777979354 GRCh37: 22:42610947-42610948
GRCh38: 22:42214941-42214942
36 TCF20 NM_005650.3(TCF20):c.1707del (p.Arg570fs) Deletion Pathogenic 504312 rs1555926655 GRCh37: 22:42609605-42609605
GRCh38: 22:42213599-42213599
37 TCF20 NM_005650.3(TCF20):c.2155C>T (p.Arg719Ter) SNV Pathogenic 599642 rs1569150452 GRCh37: 22:42609157-42609157
GRCh38: 22:42213151-42213151
38 TCF20 NM_005650.3(TCF20):c.4739_4740AG[1] (p.Arg1581fs) Microsatellite Pathogenic 599643 rs1569144348 GRCh37: 22:42606570-42606571
GRCh38: 22:42210564-42210565
39 TCF20 NM_005650.3(TCF20):c.3486dup (p.Cys1163fs) Duplication Pathogenic 599644 rs1569147315 GRCh37: 22:42607825-42607826
GRCh38: 22:42211819-42211820
40 TCF20 NM_005650.3(TCF20):c.2883C>G (p.Tyr961Ter) SNV Pathogenic 599645 rs1208949378 GRCh37: 22:42608429-42608429
GRCh38: 22:42212423-42212423
41 TCF20 NM_005650.3(TCF20):c.4786C>T (p.Arg1596Ter) SNV Pathogenic 599647 rs1569144264 GRCh37: 22:42606526-42606526
GRCh38: 22:42210520-42210520
42 TCF20 NM_005650.3(TCF20):c.5725C>T (p.His1909Tyr) SNV Pathogenic 590780 rs1569110700 GRCh37: 22:42575639-42575639
GRCh38: 22:42179633-42179633
43 CLN5 NM_006493.4:c.679C>T SNV Pathogenic 635925 GRCh37:
GRCh38:
44 TCF20 NM_001378418.1(TCF20):c.5087_5088del (p.Glu1696fs) Microsatellite Pathogenic 984540 GRCh37: 22:42606224-42606225
GRCh38: 22:42210218-42210219
45 overlap with 10 genes Deletion Pathogenic 635889 GRCh37: 18:12774-1652788
GRCh38:
46 DDX3X NM_001193416.3(DDX3X):c.1541T>C (p.Ile514Thr) SNV Pathogenic 207808 rs796052226 GRCh37: X:41205801-41205801
GRCh38: X:41346548-41346548
47 AHDC1 NM_001371928.1(AHDC1):c.1289del (p.Pro430fs) Deletion Pathogenic 817789 rs1571240391 GRCh37: 1:27877338-27877338
GRCh38: 1:27550827-27550827
48 overlap with 39 genes Deletion Pathogenic 635891 GRCh37: 18:62984563-78015117
GRCh38:
49 overlap with 47 genes Deletion Pathogenic 635906 GRCh37: 22:18890264-21540347
GRCh38:
50 overlap with 121 genes Deletion Pathogenic 635907 GRCh37: 1:554375-9779842
GRCh38:

Copy number variations for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 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 MAP3K8 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 LDLRAD4 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 TRAPPC3L 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 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

Search GEO for disease gene expression data for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome.

Pathways for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

GO Terms for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

Cellular components related to Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 PR-DUB complex GO:0035517 8.62 ASXL3 ASXL1

Biological processes related to Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of muscle cell differentiation GO:0051149 8.96 CDH2 CDC42
2 homeostasis of number of cells GO:0048872 8.62 CDH2 ASXL1

Molecular functions related to Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.28 ZNF292 MYT1L CUX1 CHD3 BRPF1 BAZ2B
2 peroxisome proliferator activated receptor binding GO:0042975 8.96 ASXL3 ASXL1

Sources for Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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