BAGOS
MCID: BKR002
MIFTS: 40

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 58 76 6
Neurodevelopmental Disorder with Involuntary Movement and Abnormal Electroencephalogram 58 76
Nedimae 58 76
Bagos 58 76
Neurodevelopmental Disorder with Involuntary Movement and Abnormal Electroencephalogram; Nedimae 58
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome 60
Syt1-Related Neurodevelopmental Disorder 60
Neurodevelopmental Disorders 45

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


HPO:

33
baker-gordon syndrome:
Onset and clinical course infantile onset


Classifications:



Summaries for Baker-Gordon Syndrome

UniProtKB/Swiss-Prot : 76 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 neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram, is related to neurodevelopmental disorder with severe motor impairment and absent language and neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. An important gene associated with Baker-Gordon Syndrome is SYT1 (Synaptotagmin 1). Affiliated tissues include brain, eye and testes, and related phenotypes are nystagmus and ataxia

OMIM : 58 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 284)
# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with severe motor impairment and absent language 12.5
2 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 12.5
3 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 12.5
4 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 12.4
5 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 12.4
6 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 12.4
7 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 12.4
8 neurodevelopmental disorder and language delay with or without structural brain abnormalities 12.4
9 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.4
10 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 12.4
11 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 12.4
12 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 12.4
13 neurodevelopmental disorder with involuntary movements 12.4
14 neurodevelopmental disorder with midbrain and hindbrain malformations 12.4
15 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 12.4
16 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 12.4
17 neurodevelopmental disorder with poor language and loss of hand skills 12.4
18 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 12.4
19 neurodevelopmental disorder with or without seizures and gait abnormalities 12.4
20 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 12.4
21 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.3
22 neurodevelopmental disorder with microcephaly, ataxia, and seizures 12.3
23 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 12.3
24 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 12.3
25 neurodevelopmental disorder with spasticity and poor growth 12.3
26 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 12.3
27 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 12.3
28 grin2b-related neurodevelopmental disorder 12.3
29 neurodevelopmental disorder, x-linked, with craniofacial abnormalities 12.3
30 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 12.3
31 neurodevelopmental disorder with central and peripheral motor dysfunction 12.3
32 neurodevelopmental disorder with impaired speech and hyperkinetic movements 12.3
33 alcohol-related neurodevelopmental disorder 12.3
34 neurodevelopmental disorder with spastic diplegia and visual defects 12.3
35 gatad2b-associated neurodevelopmental disorder 12.3
36 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 12.1
37 chd2-related neurodevelopmental disorders 12.1
38 ppp2r5d-related neurodevelopmental disorder 12.1
39 pura-related neurodevelopmental disorders 12.1
40 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion 12.1
41 fetal alcohol syndrome 11.8
42 mbd5 haploinsufficiency 11.8
43 popov-chang syndrome 11.7
44 pura syndrome 11.7
45 fetal alcohol spectrum disorder 11.5
46 smith-kingsmore syndrome 11.5
47 deaf1-associated disorders 11.4
48 rett syndrome 11.4
49 angelman syndrome 11.3
50 hyperparathyroidism, neonatal severe 11.2

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:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 ataxia 33 HP:0001251
3 eeg abnormality 33 HP:0002353
4 self-injurious behavior 33 HP:0100716
5 global developmental delay 33 HP:0001263
6 short nose 33 HP:0003196
7 dyskinesia 33 HP:0100660
8 smooth philtrum 33 HP:0000319
9 gastroesophageal reflux 33 HP:0002020
10 stereotypy 33 HP:0000733
11 feeding difficulties 33 HP:0011968
12 strabismus 33 HP:0000486
13 epicanthus 33 HP:0000286
14 dystonia 33 HP:0001332
15 inability to walk 33 HP:0002540
16 high forehead 33 HP:0000348
17 choreoathetosis 33 HP:0001266
18 prominent nasal tip 33 HP:0005274
19 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
epicanthal folds
almond-shaped eyes
central visual impairment
more
Skeletal Spine:
scoliosis

Head And Neck Nose:
short nose
prominent nasal tip

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties

Head And Neck Mouth:
thin upper lip

Muscle Soft Tissue:
hypotonia, neonatal

Neurologic Central Nervous System:
ataxia
global developmental delay
dyskinesia
dystonia
inability to walk
more
Respiratory:
sleep apnea

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

Skeletal:
joint laxity

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

Search Clinical Trials , 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:

42
Brain, Eye, Testes, Heart, Lung, Cerebellum, Cortex

Publications for Baker-Gordon Syndrome

Articles related to Baker-Gordon Syndrome:

(show top 50) (show all 866)
# Title Authors Year
1
Attention-deficit/hyperactivity disorder and risk for psychiatric and neurodevelopmental disorders in siblings. ( 29607791 )
2019
2
Social Cognition in Autism and Other Neurodevelopmental Disorders: A Co-twin Control Study. ( 30972652 )
2019
3
Neurodevelopmental Disorders: Functional Role of Ambra1 in Autism and Schizophrenia. ( 30915711 )
2019
4
Comparing parental stress of children with neurodevelopmental disorders: The case of Williams syndrome, Down syndrome and autism spectrum disorders. ( 30950174 )
2019
5
Association between feeding/mealtime behavior problems and internalizing/externalizing problems in autism spectrum disorder (ASD), other neurodevelopmental disorders (NDDs) and typically developing children. ( 30761818 )
2019
6
HNRNPU: Key to Neurodevelopmental Disorders such as Intellectual Delay, Epilepsy, and Autism. ( 30800042 )
2019
7
Dysregulated Translation in Neurodevelopmental Disorders: An Overview of Autism-Risk Genes Involved in Translation. ( 30430754 )
2019
8
Role of adherens junctions and apical-basal polarity of neural stem/progenitor cells in the pathogenesis of neurodevelopmental disorders: a novel perspective on congenital Zika syndrome. ( 30904442 )
2019
9
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. ( 31079897 )
2019
10
Epilepsy and seizures in young people with 22q11.2 deletion syndrome: Prevalence and links with other neurodevelopmental disorders. ( 30977115 )
2019
11
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders. ( 30921090 )
2019
12
Genetic predictors of celiac disease, lactose intolerance, and vitamin D function and presence of peptide morphins in urine of children with neurodevelopmental disorders. ( 28738753 )
2019
13
Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders. ( 29961565 )
2019
14
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. ( 30735662 )
2019
15
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. ( 30595372 )
2019
16
Taking Sleep Difficulties Seriously in Children With Neurodevelopmental Disorders and ASD. ( 30745434 )
2019
17
Re: Cryptorchidism and Increased Risk of Neurodevelopmental Disorders. ( 30864923 )
2019
18
Repurposing available drugs for neurodevelopmental disorders: The fragile X experience. ( 29792283 )
2019
19
Gap analysis of service needs for adults with neurodevelopmental disorders. ( 28847208 )
2019
20
Prenatal stress and the developing brain: Risks for neurodevelopmental disorders - ERRATUM. ( 30419979 )
2019
21
Assessing risk of neurodevelopmental disorders after birth with oxytocin: a systematic review and meta-analysis. ( 30444210 )
2019
22
Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders. ( 29729439 )
2019
23
The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders. ( 30563709 )
2019
24
Correction to: Physical health in children with neurodevelopmental disorders. ( 30341628 )
2019
25
Linking genetics to epigenetics: The role of folate and folate-related pathways in neurodevelopmental disorders. ( 30047142 )
2019
26
Innovations and changes in the ICD-11 classification of mental, behavioural and neurodevelopmental disorders. ( 30600616 )
2019
27
Physical health in children with neurodevelopmental disorders. ( 30043349 )
2019
28
Generating truth from error: insights from neurodevelopmental disorders. ( 30596905 )
2019
29
Molecular mechanisms underlying the models of neurodevelopmental disorders in maternal immune activation relevant to the placenta. ( 30592100 )
2019
30
Adverse drug event-related hospitalisation in persons with neurodevelopmental disorders: a state-wide retrospective cohort study. ( 30609156 )
2019
31
The NeuroDev Study: Phenotypic and Genetic Characterization of Neurodevelopmental Disorders in Kenya and South Africa. ( 30605655 )
2019
32
The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders. ( 30628890 )
2019
33
Should Heritage Languages be Incorporated into Interventions for Bilingual Individuals with Neurodevelopmental Disorders? A Systematic Review. ( 30368629 )
2019
34
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders. ( 30370994 )
2019
35
Application of Human-Induced Pluripotent Stem Cells (hiPSCs) to Study Synaptopathy of Neurodevelopmental Disorders. ( 30304570 )
2019
36
The medial pulvinar: function, origin and association with neurodevelopmental disorders. ( 30657169 )
2019
37
Mechanisms of sleep and circadian ontogeny through the lens of neurodevelopmental disorders. ( 30668981 )
2019
38
Clinical effectiveness of repetitive transcranial magnetic stimulation treatment in children and adolescents with neurodevelopmental disorders: A systematic review. ( 30663323 )
2019
39
Involving children with neurodevelopmental disorders in biomedical research. ( 30691928 )
2019
40
Synaptic Formation, Neural Circuits and Neurodevelopmental Disorders Controlled by Signaling, Translation, and Epigenetic Regulation. ( 30672130 )
2019
41
Neurodevelopmental disorders in children exposed in utero to synthetic progestins: analysis from the national cohort of the Hhorages Association. ( 30626235 )
2019
42
Functional Evaluation of Eating Difficulties Scale to predict oral motor skills in infants with neurodevelopmental disorders: a longitudinal study. ( 30720211 )
2019
43
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. ( 30732576 )
2019
44
Self-directed speech and self-regulation in childhood neurodevelopmental disorders: Current findings and future directions. ( 30704545 )
2019
45
Investigating functional brain network integrity using a traditional and novel categorical scheme for neurodevelopmental disorders. ( 30708240 )
2019
46
Clinical guidelines in neurodevelopmental disorders: following the line. ( 30734940 )
2019
47
Golden Exosomes Selectively Target Brain Pathologies in Neurodegenerative and Neurodevelopmental Disorders. ( 30761901 )
2019
48
Selective Eating: A Common Fuss in Neurodevelopmental Disorders. ( 30792030 )
2019
49
Non-invasive Brain Stimulation for the Rehabilitation of Children and Adolescents With Neurodevelopmental Disorders: A Systematic Review. ( 30787895 )
2019
50
Cyber bullying among children with neurodevelopmental disorders: A systematic review. ( 30820957 )
2019

Variations for Baker-Gordon Syndrome

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

76
# 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

ClinVar genetic disease variations for Baker-Gordon Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SYT1 NM_005639.3(SYT1): c.1103T> C (p.Ile368Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1135402761 GRCh37 Chromosome 12, 79842738: 79842738
2 SYT1 NM_005639.3(SYT1): c.1103T> C (p.Ile368Thr) single nucleotide variant Pathogenic/Likely pathogenic rs1135402761 GRCh38 Chromosome 12, 79448958: 79448958
3 SYT1 NM_005639.3(SYT1): c.908T> A (p.Met303Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 79353599: 79353599
4 SYT1 NM_005639.3(SYT1): c.908T> A (p.Met303Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 79747379: 79747379
5 SYT1 NM_005639.3(SYT1): c.911A> G (p.Asp304Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 79353602: 79353602
6 SYT1 NM_005639.3(SYT1): c.911A> G (p.Asp304Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 79747382: 79747382
7 SYT1 NM_005639.3(SYT1): c.1098C> A (p.Asp366Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 79448953: 79448953
8 SYT1 NM_005639.3(SYT1): c.1098C> A (p.Asp366Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 79842733: 79842733
9 SYT1 NM_005639.3(SYT1): c.1113C> G (p.Asn371Lys) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 79842748: 79842748
10 SYT1 NM_005639.3(SYT1): c.1113C> G (p.Asn371Lys) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 79448968: 79448968

Expression for Baker-Gordon Syndrome

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

Pathways for Baker-Gordon Syndrome

GO Terms for Baker-Gordon Syndrome

Sources for Baker-Gordon Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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