BAGOS
MCID: BKR002
MIFTS: 18

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

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation


Classifications:



External Ids:

OMIM 58 618218
Orphanet 60 ORPHA522077

Summaries for Baker-Gordon Syndrome

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)

MalaCards based summary : Baker-Gordon Syndrome, also known as neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram; nedimae, is related to avian influenza and influenza. An important gene associated with Baker-Gordon Syndrome is SYT1 (Synaptotagmin 1). Affiliated tissues include eye.

Related Diseases for Baker-Gordon Syndrome

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

# Related Disease Score Top Affiliating Genes
1 avian influenza 10.1
2 influenza 10.1

Symptoms & Phenotypes for Baker-Gordon Syndrome

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

Genetic Tests for Baker-Gordon Syndrome

Anatomical Context for Baker-Gordon Syndrome

MalaCards organs/tissues related to Baker-Gordon Syndrome:

42
Eye

Publications for Baker-Gordon Syndrome

Variations for Baker-Gordon Syndrome

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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