BAGOS
MCID: BKR002
MIFTS: 26

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 57 72
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome 58 6
Neurodevelopmental Disorder with Involuntary Movement and Abnormal Electroencephalogram 57 72
Nedimae 57 72
Bagos 57 72
Neurodevelopmental Disorder with Involuntary Movement and Abnormal Electroencephalogram; Nedimae 57
Syt1-Related Neurodevelopmental Disorder 58

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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 : 72 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, is also known as infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome. An important gene associated with Baker-Gordon Syndrome is SYT1 (Synaptotagmin 1). Affiliated tissues include eye, and related phenotypes are absent speech and motor delay

OMIM® : 57 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) (Updated 05-Apr-2021)

Wikipedia : 73 SYT1-associated neurodevelopmental disorder, also known as Baker-Gordon Syndrome, is a rare genetic... more...

Related Diseases for 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 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
7 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
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 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
15 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
16 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
17 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
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 brachyturricephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000244
26 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
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®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
ataxia
global developmental delay
dyskinesia
involuntary movements
dystonia
more
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

Head And Neck Eyes:
nystagmus
strabismus
epicanthal folds
almond-shaped eyes
central visual impairment
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 (Updated 05-Apr-2021)

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:

40
Eye

Publications for Baker-Gordon Syndrome

Articles related to Baker-Gordon Syndrome:

# Title Authors PMID Year
1
SYT1-associated neurodevelopmental disorder: a case series. 6 57
30107533 2018
2
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. 6 57
25712080 2015
3
Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. 57 6
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
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYT1 NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) SNV Likely pathogenic 590280 rs1565962725 GRCh37: 12:79842733-79842733
GRCh38: 12:79448953-79448953
2 SYT1 NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys) SNV Likely pathogenic 590281 rs144900171 GRCh37: 12:79842748-79842748
GRCh38: 12:79448968-79448968
3 SYT1 NM_005639.3(SYT1):c.908T>A (p.Met303Lys) SNV Likely pathogenic 590278 rs1565922388 GRCh37: 12:79747379-79747379
GRCh38: 12:79353599-79353599
4 SYT1 NM_005639.3(SYT1):c.911A>G (p.Asp304Gly) SNV Likely pathogenic 590279 rs1565922395 GRCh37: 12:79747382-79747382
GRCh38: 12:79353602-79353602
5 SYT1 NM_005639.3(SYT1):c.1100_1102dup (p.Lys367dup) Duplication Likely pathogenic 828098 rs1593076474 GRCh37: 12:79842733-79842734
GRCh38: 12:79448953-79448954
6 SYT1 NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) SNV Likely pathogenic 431484 rs1135402761 GRCh37: 12:79842738-79842738
GRCh38: 12:79448958-79448958

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

72
# 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

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