BAGOS
MCID: BKR002
MIFTS: 49

Baker-Gordon Syndrome (BAGOS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Baker-Gordon Syndrome

MalaCards integrated aliases for Baker-Gordon Syndrome:

Name: Baker-Gordon Syndrome 56 73
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome 58 6
Neurodevelopmental Disorder with Involuntary Movement and Abnormal Electroencephalogram 56 73
Nedimae 56 73
Bagos 56 73
Neurodevelopmental Disorder with Involuntary Movement and Abnormal Electroencephalogram; Nedimae 56
Syt1-Related Neurodevelopmental Disorder 58
Neurodevelopmental Disorders 43
Neurodevelopmental Disorder 17

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


HPO:

31
baker-gordon syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Baker-Gordon Syndrome

UniProtKB/Swiss-Prot : 73 Baker-Gordon syndrome: An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation.

MalaCards based summary : Baker-Gordon Syndrome, also known as infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, is related to alacrima, achalasia, and mental retardation syndrome and hypotonia. An important gene associated with Baker-Gordon Syndrome is SYT1 (Synaptotagmin 1), and among its related pathways/superpathways is Neuroscience. The drugs Histamine and Methamphetamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, and related phenotypes are absent speech and motor delay

OMIM : 56 Baker-Gordon syndrome (BAGOS) is a neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures (summary by Baker et al., 2018). (618218)

Related Diseases for Baker-Gordon Syndrome

Diseases related to Baker-Gordon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 659)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 30.2 TBR1 EBF3 BRPF1
2 hypotonia 29.4 TBCK NTNG2 EBF3
3 infantile hypotonia 29.2 TBCK SYT1
4 visual epilepsy 29.0 TBR1 TBCK CLN5
5 neurodevelopmental disorder with severe motor impairment and absent language 12.6
6 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 12.6
7 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 12.6
8 neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 12.6
9 neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 12.6
10 grin2b-related neurodevelopmental disorder 12.6
11 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 12.6
12 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 12.6
13 neurodevelopmental disorder and language delay with or without structural brain abnormalities 12.6
14 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 12.6
15 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 12.6
16 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 12.5
17 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 12.5
18 neurodevelopmental disorder with impaired speech and hyperkinetic movements 12.5
19 neurodevelopmental disorder with seizures and speech and walking impairment 12.5
20 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 12.5
21 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.5
22 pura-related neurodevelopmental disorders 12.5
23 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures 12.5
24 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 12.5
25 neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements 12.5
26 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 12.5
27 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 12.5
28 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 12.5
29 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 12.5
30 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.5
31 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 12.5
32 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 12.5
33 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 12.5
34 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 12.5
35 neurodevelopmental disorder with absent language and variable seizures 12.5
36 neurodevelopmental disorder with involuntary movements 12.5
37 neurodevelopmental disorder with midbrain and hindbrain malformations 12.5
38 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 12.5
39 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 12.5
40 neurodevelopmental disorder with visual defects and brain anomalies 12.5
41 neurodevelopmental disorder with cerebellar hypoplasia and spasticity 12.5
42 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 12.5
43 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 12.5
44 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 12.5
45 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 12.5
46 neurodevelopmental disorder with central and peripheral motor dysfunction 12.4
47 gatad2b-associated neurodevelopmental disorder 12.4
48 neurodevelopmental disorder with poor language and loss of hand skills 12.4
49 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 12.4
50 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 12.4

Graphical network of the top 20 diseases related to Baker-Gordon Syndrome:



Diseases related to Baker-Gordon Syndrome

Symptoms & Phenotypes for Baker-Gordon Syndrome

Human phenotypes related to Baker-Gordon Syndrome:

58 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0001344
2 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
3 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
4 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
5 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
6 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
7 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
8 poor eye contact 58 31 frequent (33%) Frequent (79-30%) HP:0000817
9 esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0000565
10 hyperkinetic movements 58 31 frequent (33%) Frequent (79-30%) HP:0002487
11 poor visual behavior for age 58 31 frequent (33%) Frequent (79-30%) HP:0025152
12 repetitive compulsive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0008762
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
15 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
16 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
17 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
18 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
19 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
20 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
21 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
22 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
23 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
24 hemiballismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100248
25 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
26 brachyturricephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000244
27 bilateral talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001776
28 choreoathetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001266
29 almond-shaped palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007874
30 central apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002871
31 progressive flexion contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0005876
32 self-mutilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000742
33 widow's peak 58 31 occasional (7.5%) Occasional (29-5%) HP:0000349
34 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
35 hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000540
36 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
37 horizontal eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0011228
38 dermoid cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0025247
39 hyperventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002883
40 lumbar hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002938
41 prominent nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0005274
42 eeg with spike-wave complexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0010850
43 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
44 self-biting 58 31 occasional (7.5%) Occasional (29-5%) HP:0012169
45 pes valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008081
46 equinus calcaneus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008138
47 eeg with focal sharp waves 58 31 occasional (7.5%) Occasional (29-5%) HP:0011196
48 athetoid cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0011445
49 eeg with series of focal spikes 58 31 occasional (7.5%) Occasional (29-5%) HP:0011194
50 abnormal location of the eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0040296

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
dyskinesia
ataxia
involuntary movements
dystonia
more
Head And Neck Nose:
short nose
prominent nasal tip

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Skeletal:
joint laxity

Head And Neck Mouth:
thin upper lip

Muscle Soft Tissue:
hypotonia, neonatal

Skeletal Spine:
scoliosis

Head And Neck Face:
smooth philtrum
high forehead
fine facial features

Head And Neck Eyes:
nystagmus
strabismus
epicanthal folds
almond-shaped eyes
central visual impairment
more
Respiratory:
sleep apnea

Skeletal Feet:
foot deformities

Neurologic Behavioral Psychiatric Manifestations:
angry outbursts
stereotypic behavior
self-harm
unpredictable behavior

Clinical features from OMIM:

618218

Drugs & Therapeutics for Baker-Gordon Syndrome

Drugs for Baker-Gordon Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 163)
# 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
Cyproheptadine Approved Phase 4 129-03-3 2913
4
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
5 Gastrointestinal Agents Phase 4
6 Central Nervous System Stimulants Phase 4
7 Anti-Allergic Agents Phase 4
8 Histamine Antagonists Phase 4
9
Histamine Phosphate Phase 4 51-74-1 65513
10 Histamine H1 Antagonists Phase 4
11 Anti-Bacterial Agents Phase 4
12 Antibiotics, Antitubercular Phase 4
13 Anti-Infective Agents Phase 4
14
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
15
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
16
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
17
Risperidone Approved, Investigational Phase 2, Phase 3 106266-06-2 5073
18
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
19
Galantamine Approved Phase 3 357-70-0 9651
20
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
21
Remifentanil Approved Phase 3 132875-61-7 60815
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
23
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
24
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
25 Tocotrienol Investigational Phase 3 6829-55-6
26 Tocopherols Phase 3
27 Tocotrienols Phase 3
28 Respiratory System Agents Phase 3
29 Antitussive Agents Phase 3
30 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
31 triamcinolone acetonide Phase 3
32 Triamcinolone diacetate Phase 3
33 Triamcinolone hexacetonide Phase 3
34 Cholinergic Agents Phase 3
35 Cholinesterase Inhibitors Phase 3
36 Rho(D) Immune Globulin Phase 3
37 Immunoglobulins, Intravenous Phase 3
38 gamma-Globulins Phase 3
39 Fluorodeoxyglucose F18 Phase 3
40 Dopamine Antagonists Phase 2, Phase 3
41 Antipsychotic Agents Phase 2, Phase 3
42 Platelet Aggregation Inhibitors Phase 3
43 carnitine Phase 2, Phase 3
44
Glycerol Approved, Investigational Phase 2 56-81-5 753
45
Buspirone Approved, Investigational Phase 1, Phase 2 36505-84-7 2477
46 Strawberry Approved Phase 2
47
Desipramine Approved, Investigational Phase 2 50-47-5 2995
48
Donepezil Approved Phase 2 120014-06-4 3152
49
Citalopram Approved Phase 2 59729-33-8 2771
50
Methylphenidate Approved, Investigational Phase 1, Phase 2 113-45-1 4158

Interventional clinical trials:

(show top 50) (show all 283)
# 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 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
4 Connecting the Dots: An RCT Integrating Standardized ASD Screening, High-Quality Treatment, and Long-Term Outcomes Enrolling by invitation NCT03333629 Phase 4
5 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
6 Pathogenesis of Rett Syndrome: Natural History and Treatment Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
7 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
8 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
9 6-Year Follow-up of a Prevention Program for Bereaved Families Completed NCT01008189 Phase 3
10 Double Blind Placebo Controlled Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12
11 Randomized Control Trial of Using Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
12 Double-Blind Placebo Controlled, Cross-over Trial of Subcutaneous B12 on Behavioral and Metabolic Measures in Children With Autism. Completed NCT00273650 Phase 2, Phase 3 methylcobalamin
13 Childhood Onset Psychiatric Disorders: A Placebo Controlled Double-Blind Crossover Trial of Intravenous Immunoglobulin (IVIg) Completed NCT00001768 Phase 3 Intravenous immunoglobulin
14 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3
15 Pharmacogenomics in Autism Treatment Completed NCT00584701 Phase 2, Phase 3 Risperidone
16 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3 Galantamine
17 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
18 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
19 Promotion of Maternal Gut Microbiota and Psychological Stimulation on Child Cognitive Development at 6 Months of Age Recruiting NCT03851120 Phase 3
20 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
21 Choline Supplementation in Children With Fetal Alcohol Spectrum Disorders Completed NCT01911299 Phase 2
22 Neurocognitive Habilitation for Children With FAS/ARND Completed NCT00164346 Phase 1, Phase 2
23 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
24 A Phase 2A Randomized, Placebo Controlled Trial of EPI-743 in Children With Rett Syndrome Completed NCT01822249 Phase 2 EPI-743;Placebo
25 Postnatal Choline Supplementation in Children With Prenatal Alcohol Exposure Completed NCT01149538 Phase 1, Phase 2 Choline bitartrate
26 Early Pharmacotherapy Aimed at Neuroplasticity in Autism : Safety and Efficacy Completed NCT00166621 Phase 1, Phase 2 Buspirone
27 A Randomized, Double-blind, Placebo-controlled, Dose-ranging Study of the Safety and Pharmacokinetics of Oral NNZ-2566 in Pediatric Rett Syndrome Completed NCT02715115 Phase 2 NNZ-2566;Placebo
28 A Phase 1 Clinical Study to Assess Safety and Efficacy of Oral Fingolimod (FTY720) in Children With Rett Syndrome. Completed NCT02061137 Phase 1, Phase 2 fingolimod (FTY720)
29 Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett Syndrome Completed NCT00990691 Phase 2 Administration of a high dose of desipramine;Administration of a low dose of desipramine;Administration of a placebo
30 Nutritional Intervention Using Supplementation With Cysteine-Rich Whey Protein Isolate (Immunocal®) in Children With Autism: Effects in Core Areas of Behavior- A Randomized Double-Blind Study Completed NCT01366859 Phase 2
31 Augmentation of the Cholinergic System in Fragile X Syndrome: A Double-Blind Placebo-Controlled Randomized Study of Donepezil Completed NCT01120626 Phase 2 donepezil;sugar pill
32 A Randomized, Placebo-Controlled Trial of Omega-3 Fatty Acids in the Treatment of Young Children With Autism Completed NCT01248728 Phase 2
33 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
34 A Trial of Prophylaxis for the PANDAS Subgroup Completed NCT00001359 Phase 2 Penicillin or Placebo
35 Pilot Study of Glycine Augmentation in Carriers of a Mutation in the Gene Encoding Glycine Decarboxylase Completed NCT01720316 Phase 2 Glycine;placebo
36 Folate Rechallenge: A Pilot Study Completed NCT00672360 Phase 2
37 Effects of AFQ056 on Language Learning in Young Children With Fragile X Syndrome (FXS) Recruiting NCT02920892 Phase 2 AFQ056
38 Intranasal Ketamine With Dexmedetomidine for the Treatment of Children With Autism Spectrum Disorder Recruiting NCT03434366 Phase 2 ketamine and dexmedetomidine;ketamine;Saline
39 An Open-label Study to Investigate the Safety, Tolerability and Efficacy of a Single 6-hour Intravenous Infusion of AMO-01 to Treat Adolescents and Adults With Phelan-McDermid Syndrome (PMS) and Co-morbid Epilepsy Recruiting NCT03493607 Phase 2 AMO-01
40 Phase 2 Study: Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Recruiting NCT03197662 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
41 Effect of a Wide Spectrum Nutritional Supplement on Mitochondrial Function in Children With Autism Spectrum Disorder (ASD) Recruiting NCT03835117 Phase 2 Wide-spectrum nutritional supplement
42 Effects of Low-dose Versus Normal-dose Psychostimulants on Executive Functions in Individuals With Attention-Deficit Hyperactivity Disorder Recruiting NCT02167048 Phase 1, Phase 2 Psychostimulants
43 Treatment of Social and Language Deficits With Leucovorin for Young Children With Autism Not yet recruiting NCT04060030 Phase 2 Levoleucovorin Calcium
44 Early Treatment of Language Impairment in Young Children With Autism Spectrum Disorder With Leucovorin Calcium Not yet recruiting NCT04060017 Phase 2 Levoleucovorin Calcium
45 Leucovorin for the Treatment of Language Impairment in Children With Autism Spectrum Disorder Not yet recruiting NCT02839915 Phase 2 Folinic Acid
46 Fluoxetine : Clinical and Anatomy-functional Therapeutic Effects in Children With Autism Withdrawn NCT00873834 Phase 2 fluoxetine;placebo
47 Sarcosine (N-methylglycine) Trial for Individuals At Risk for Developing Schizophrenia and Related Disorders Withdrawn NCT00276263 Phase 2 Sarcosine (N-methylglycine)
48 A Study of Divalproex Sodium in Children With Autism Spectrum Disorder and Epileptiform EEG Withdrawn NCT01170325 Phase 2 Divalproex Sodium;Placebo Comparator
49 Intention-based Therapy for Autism Spectrum Disorder: Promising Results of a Wait-List Control Study in Children Completed NCT00503191 Phase 1
50 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

Search NIH Clinical Center for Baker-Gordon Syndrome

Cochrane evidence based reviews: neurodevelopmental disorders

Genetic Tests for Baker-Gordon Syndrome

Anatomical Context for Baker-Gordon Syndrome

MalaCards organs/tissues related to Baker-Gordon Syndrome:

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

Publications for Baker-Gordon Syndrome

Articles related to Baker-Gordon Syndrome:

# Title Authors PMID Year
1
SYT1-associated neurodevelopmental disorder: a case series. 6 56
30107533 2018
2
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 56 6
25712080 2015
3
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 6 56
25705886 2015
4
Pyroglutamic acid in cheese: presence, origin, and correlation with ripening time of Grana Padano cheese. 61
10791780 2000

Variations for Baker-Gordon Syndrome

ClinVar genetic disease variations for Baker-Gordon Syndrome:

6 (show top 50) (show all 115) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NKX2-1 NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)deletion Pathogenic 521085 rs1555349214 14:36987043-36987043 14:36517838-36517838
2 TBCK NM_001163435.3(TBCK):c.658+1G>ASNV Pathogenic 635859 4:107171574-107171574 4:106250417-106250417
3 C12orf65 NM_152269.5(C12orf65):c.-28-1489_283-968deldeletion Pathogenic 635867 12:123736705-123740392 12:123252158-123255845
4 subset of 23 genes: MAGEL2 , SNURF , UBE3A deletion Pathogenic 635870 15:23699983-28436313
5 covers 28 genes, none of which curated to show dosage sensitivity deletion Pathogenic 635875 12:53784698-54741363
6 covers 13 genes, none of which curated to show dosage sensitivity deletion Pathogenic 635876 15:30405535-32914190
7 ADCYAP1 , CETN1 , CLUL1 , COLEC12 , ENOSF1 , THOC1 , TYMS , TYMSOS , USP14 , YES1 deletion Pathogenic 635889 18:12774-1652788
8 subset of 26 genes: PRRT2 deletion Pathogenic 635890 16:29656717-30158469
9 covers 39 genes, none of which curated to show dosage sensitivity deletion Pathogenic 635891 18:62984563-78015117
10 CALCRL , FAM171B , FSIP2 , ITGAV , TFPI , ZC3H15 , ZSWIM2 deletion Pathogenic 635896 2:186356601-188906835
11 subset of 210 genes: BARD1 , BMPR2 , CASP10 , COL3A1 , PAX3 , SATB2 duplication Pathogenic 635897 2:188926928-225298653
12 CUL3 , DOCK10 , NYAP2 deletion Pathogenic 635898 2:225317517-226707110
13 subset of 47 genes: CRKL , TBX1 deletion Pathogenic 635906 22:18890264-21540347
14 subset of 121 genes: CAMTA1 , GNB1 deletion Pathogenic 635907 1:554375-9779842
15 CLN5 NM_006493.4:c.679C>TSNV Pathogenic 635925
16 PNPT1 , SATB2 NM_033109.5:c.652A>TSNV Pathogenic 635926
17 covers 19 genes, none of which curated to show dosage sensitivity deletion Pathogenic 635933 4:171316973-180632505
18 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
19 AGA , NEIL3 deletion Pathogenic 635946 4:178174991-178942685
20 FRG1 , FRG2 duplication Pathogenic 635958 4:190816609-191024533
21 subset of 27 genes: ELN deletion Pathogenic 635959 7:72699382-74142329
22 subset of 26 genes: ELN deletion Pathogenic 635960 7:72726590-74142329
23 BAZ2B NM_013450.4(BAZ2B):c.5036A>T (p.Glu1679Val)SNV Pathogenic 800363 2:160205619-160205619 2:159349108-159349108
24 BAZ2B NM_013450.4(BAZ2B):c.2126G>A (p.Cys709Tyr)SNV Pathogenic 800362 2:160287442-160287442 2:159430931-159430931
25 BAZ2B NM_013450.4(BAZ2B):c.628C>T (p.Arg210Ter)SNV Pathogenic 800361 2:160303361-160303361 2:159446850-159446850
26 BAZ2B GRCh37/hg19 2q24.2(chr2:160124451-160511552)x1copy number loss Pathogenic 800359 2:160076188-160537539
27 BAZ2B GRCh37/hg19 2q24.2(chr2:160124451-160219840)x1copy number loss Pathogenic 800360 2:160076188-160276186
28 BRPF1 NM_001003694.2(BRPF1):c.360_361AG[1] (p.Glu121fs)short repeat Pathogenic 375486 rs1057519511 3:9776184-9776185 3:9734500-9734501
29 EBF3 NM_001005463.3(EBF3):c.616C>T (p.Arg206Ter)SNV Pathogenic 375503 rs1057519522 10:131676052-131676052 10:129877788-129877788
30 TBR1 NM_006593.4(TBR1):c.1581_1587GGCTGCA[3] (p.Thr532fs)short repeat Pathogenic/Likely pathogenic 224144 rs869312704 2:162280263-162280264 2:161423752-161423753
31 NTNG2 NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr)SNV Pathogenic/Likely pathogenic 691559 9:135073381-135073381 9:132197994-132197994
32 NTNG2 NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly)SNV Pathogenic/Likely pathogenic 691556 9:135073458-135073458 9:132198071-132198071
33 NTNG2 NM_032536.4(NTNG2):c.446T>C (p.Met149Thr)SNV Pathogenic/Likely pathogenic 691560 9:135073585-135073585 9:132198198-132198198
34 NTNG2 NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp)SNV Pathogenic/Likely pathogenic 691558 9:135114501-135114501 9:132239114-132239114
35 NTNG2 NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr)SNV Pathogenic/Likely pathogenic 691555 9:135117272-135117272 9:132241885-132241885
36 SYT1 NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)SNV Pathogenic/Likely pathogenic 431484 rs1135402761 12:79842738-79842738 12:79448958-79448958
37 SYT1 NM_005639.3(SYT1):c.908T>A (p.Met303Lys)SNV Pathogenic/Likely pathogenic 590278 rs1565922388 12:79747379-79747379 12:79353599-79353599
38 SYT1 NM_005639.3(SYT1):c.911A>G (p.Asp304Gly)SNV Pathogenic/Likely pathogenic 590279 rs1565922395 12:79747382-79747382 12:79353602-79353602
39 SYT1 NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu)SNV Pathogenic/Likely pathogenic 590280 rs1565962725 12:79842733-79842733 12:79448953-79448953
40 SYT1 NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys)SNV Pathogenic/Likely pathogenic 590281 rs144900171 12:79842748-79842748 12:79448968-79448968
41 PNPT1 NM_033109.5(PNPT1):c.420del (p.Leu141fs)deletion Likely pathogenic 635856 2:55910953-55910953 2:55683818-55683818
42 NSD1 NM_172349.2(NSD1):c.5289G>C (p.Trp1763Cys)SNV Likely pathogenic 635855 5:176710874-176710874 5:177283873-177283873
43 ANKRD11 NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs)duplication Likely pathogenic 635858 16:89349064-89349065 16:89282656-89282657
44 subset of 24 genes: PRRT2 duplication Likely pathogenic 635880 16:29526295-30106669
45 subset of 26 genes: PRRT2 deletion Likely pathogenic 635878 16:29656657-30158469
46 subset of 15 genes: AKT3 , CHRM3 deletion Likely pathogenic 635893 1:238817623-244138230
47 TRRAP NM_003496.3(TRRAP):c.3316G>A (p.Glu1106Lys)SNV Likely pathogenic 689793 7:98527752-98527752 7:98930129-98930129
48 subset of 27 genes: ELN duplication Likely pathogenic 635951 7:72364526-73780265
49 subset of 22 genes: CNTN4 , CNTN6 deletion Likely pathogenic 635936 3:36016-9307855
50 subset of 26 genes: GATA4 duplication Likely pathogenic 635939 8:8112589-11967869

UniProtKB/Swiss-Prot genetic disease variations for Baker-Gordon Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SYT1 p.Ile368Thr VAR_072911 rs113540276
2 SYT1 p.Met303Lys VAR_081536
3 SYT1 p.Asp304Gly VAR_081537
4 SYT1 p.Asp366Glu VAR_081538
5 SYT1 p.Asn371Lys VAR_081539

Copy number variations for Baker-Gordon Syndrome from CNVD:

7 (show top 50) (show all 60)
# 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 98911 16 21700000 27600000 Translocation Neurodevelopmental disorder
17 102740 16 56700000 65200000 Translocation Neurodevelopmental disorder
18 106835 17 1 3300000 Deletion Neurodevelopmental disorder
19 107576 17 16000000 22200000 Deletion Neurodevelopmental disorder
20 109392 17 25800000 31800000 Deletion Neurodevelopmental disorder
21 111432 17 3600000 6800000 Translocation NLRP1 Neurodevelopmental disorder
22 119293 18 10900000 15400000 Translocation C18orf1 Neurodevelopmental disorder
23 121720 18 46400000 52000000 Translocation TCF4 Neurodevelopmental disorder
24 124213 19 1 6900000 Translocation GTF2F1 Neurodevelopmental disorder
25 127258 19 30200000 37100000 Translocation ZNF507 Neurodevelopmental disorder
26 134327 2 1 4300000 Translocation Neurodevelopmental disorder
27 140385 2 197100000 203500000 Translocation SATB2 Neurodevelopmental disorder
28 144935 2 31900000 182700000 Inversion SPAST Neurodevelopmental disorder
29 145436 2 38400000 41600000 Translocation Neurodevelopmental disorder
30 161252 22 17900000 25900000 Deletion or duplication Neurodevelopmental disorder
31 167443 3 118800000 120500000 Translocation Neurodevelopmental disorder
32 170389 3 153500000 156300000 Translocation MBNL1 Neurodevelopmental disorder
33 170572 3 156300000 158100000 Translocation Neurodevelopmental disorder
34 172151 3 177300000 180600000 Translocation Neurodevelopmental disorder
35 173417 3 193800000 199501827 Deletion Neurodevelopmental disorder
36 178371 3 71800000 74200000 Translocation FOXP1 Neurodevelopmental disorder
37 178908 3 81800000 118800000 Inversion ZBTB20 Neurodevelopmental disorder
38 198019 5 18500000 24700000 Inversion Neurodevelopmental disorder
39 201090 5 65300000 130400000 Translocation Neurodevelopmental disorder
40 204683 6 113900000 170899992 Inversion BET3L Neurodevelopmental disorder
41 204684 6 113900000 170899992 Inversion PDE10A Neurodevelopmental disorder
42 215985 6 84700000 87500000 Translocation Neurodevelopmental disorder
43 216424 6 92100000 98700000 Translocation MIR548H3 Neurodevelopmental disorder
44 216902 6 99900000 104800000 Translocation RTN4IP1 Neurodevelopmental disorder
45 217059 2 936554 1350391 Translocation SNTG2 Neurodevelopmental disorder
46 218782 7 117200000 120900000 Translocation KCND2 Neurodevelopmental disorder
47 219436 7 126900000 129000000 Translocation METTL2B Neurodevelopmental disorder
48 224632 7 35600000 37500000 Translocation LOC401324 Neurodevelopmental disorder
49 227254 7 66100000 158821424 Inversion AUTS2 Neurodevelopmental disorder
50 227255 7 66100000 158821424 Inversion PTPRN2 Neurodevelopmental disorder

Expression for Baker-Gordon Syndrome

Search GEO for disease gene expression data for Baker-Gordon Syndrome.

Pathways for Baker-Gordon Syndrome

Pathways related to Baker-Gordon Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.33 TBR1 SYT1 NKX2-1

GO Terms for Baker-Gordon Syndrome

Biological processes related to Baker-Gordon Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of neuron projection development GO:0010975 8.96 TBR1 NTNG2
2 brain development GO:0007420 8.92 TBR1 SYT1 NKX2-1 CLN5

Sources for Baker-Gordon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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