KOS
MCID: KGM001
MIFTS: 51

Kagami-Ogata Syndrome (KOS)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kagami-Ogata Syndrome

MalaCards integrated aliases for Kagami-Ogata Syndrome:

Name: Kagami-Ogata Syndrome 56 12 52 58 36 15 39
Paternal Uniparental Disomy of Chromosome 14 52 29 6
Uniparental Disomy, Paternal, Chromosome 14 56 71
Kos 12 58
Kagami-Ogata Syndrome Due to Paternal Uniparental Disomy of Chromosome 14 58
Kagami-Ogata Syndrome Due to Maternal 14q32.2 Hypermethylation 58
Kagami-Ogata Syndrome Due to Maternal 14q32.2 Microdeletion 58
Mca Due to 14q32.2 Maternally Expressed Gene Defect 52
Paternal Uniparental Disomy 14 52
Maternal Monosomy 14q32.2 58
Maternal Del(14)(q32.2) 58
Upd(14)pat 58

Characteristics:

Orphanet epidemiological data:

58
kagami-ogata syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
kagami-ogata syndrome due to maternal 14q32.2 microdeletion
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
kagami-ogata syndrome due to maternal 14q32.2 hypermethylation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant (loss of maternal allele)

Miscellaneous:
imprinted disorder
mechanical ventilation may be required
thorax anomaly ameliorates with age (in some patients)


HPO:

31
kagami-ogata syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Kagami-Ogata Syndrome

KEGG : 36 Paternal uniparental disomy 14 syndrome is characterized by characteristic face, a small bell-shaped thorax with coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly and polyhydramnios. Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3, RTL1as (RTL1 antisense) and MEG8, together with the intergenic differentially methylated region (IG-DMR) and the MEG3-DMR. It has been reported that epimutations (hypermethylations) and microdeletions affecting the IG-DMR and/or the MEG3-DMR, result in paternal uniparental disomy 14 like phenotype. Recently, the name 'Kagami-Ogata syndrome' has been approved for this clinically recognizable disorder.

MalaCards based summary : Kagami-Ogata Syndrome, also known as paternal uniparental disomy of chromosome 14, is related to kaufman oculocerebrofacial syndrome and beckwith-wiedemann syndrome. An important gene associated with Kagami-Ogata Syndrome is KAOGS (Kagami-Ogata Syndrome), and among its related pathways/superpathways are Transmission across Chemical Synapses and Circadian entrainment. Affiliated tissues include lung, placenta and cortex, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has material basis in heterozygous mutation in an imprinting region on chromosome 14q32.

More information from OMIM: 608149

Related Diseases for Kagami-Ogata Syndrome

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

(show top 50) (show all 316)
# Related Disease Score Top Affiliating Genes
1 kaufman oculocerebrofacial syndrome 33.6 SLC32A1 SLC17A7 SLC17A6 RPS3A PSMD4 PRDM10
2 beckwith-wiedemann syndrome 32.2 RTL1 MEG3 H2AC18 FMR1 DLK1
3 temple syndrome 31.9 RTL1 PPIEL MEG3 DLK1
4 silver-russell syndrome 1 31.9 RTL1 MEG3 H2AC18 DLK1
5 fragile x syndrome 31.8 NRXN2 NLGN2 NLGN1 H2AC18 GRIN2B GRIA1
6 autism 31.2 NRXN2 NLGN2 NLGN1 GRIN2B GRIA1 FMR1
7 phelan-mcdermid syndrome 30.9 NRXN2 NLGN2 NLGN1 FMR1 DLG4
8 retinitis pigmentosa 30.8 SLC32A1 SLC17A7 SLC17A6 RPS3A PSMD4 PRDM10
9 pervasive developmental disorder 30.8 SLC32A1 SLC17A7 RPS3A PRDM10 NRXN2 NLGN2
10 amyotrophic lateral sclerosis 1 30.6 RPS3A PSMD4 PRDM10 H2AC18 GRIA1 GAPDH
11 platelet groups--ko system 12.4
12 disseminated intravascular coagulation 11.5
13 varicose veins 11.2
14 fanconi anemia, complementation group a 11.2
15 narcolepsy 11.2
16 bronchopulmonary dysplasia 11.2
17 polyhydramnios 10.9
18 maternal uniparental disomy 10.8 RTL1 MEG3 DLK1
19 hereditary lymphedema 10.8 RPS3A PRDM10 H2AC18
20 x-linked monogenic disease 10.8 RPS3A PRDM10 H2AC18 GRIA1 GAPDH FMR1
21 wilson-turner x-linked mental retardation syndrome 10.8 RPS3A PSMD4 PRDM10 H2AC18 GAPDH DLG4
22 retinitis pigmentosa 23 10.8 RPS3A PSMD4 PRDM10 H2AC18 GAPDH
23 hypotrichosis 1 10.8 RPS3A PSMD4 PRDM10 H2AC18 GAPDH
24 toxic encephalopathy 10.8 PRDM10 H2AC18 GRIN2B GRIA1 GAPDH DLG4
25 hereditary lymphedema i 10.8 RPS3A PRDM10 H2AC18 GAPDH
26 speech disorder 10.8 RPS3A PRDM10 H2AC18 GRIN2B FMR1
27 pelizaeus-merzbacher disease 10.8 RPS3A PSMD4 PRDM10 H2AC18 GAPDH
28 specific developmental disorder 10.8 PRDM10 H2AC18 GRIN2B GRIA1 GAPDH FMR1
29 disease of mental health 10.8 PRDM10 H2AC18 GRIN2B GRIA1 FMR1 DLG4
30 cerebral degeneration 10.8 PRDM10 H2AC18 GAPDH DLG4
31 suppression of tumorigenicity 12 10.8 RPS3A PSMD4 PRDM10 H2AC18 GAPDH
32 autosomal genetic disease 10.8 RPS3A PSMD4 PRDM10 H2AC18 GAPDH
33 cardiomyopathy, familial hypertrophic, 2 10.8 RPS3A PRDM10 GAPDH
34 childhood disintegrative disease 10.8 NRXN2 NLGN2 NLGN1
35 x-linked recessive disease 10.8 RPS3A PRDM10 H2AC18 GAPDH
36 paternal uniparental disomy 10.8
37 pitt-hopkins-like syndrome 1 10.8 NRXN2 NLGN2 NLGN1
38 diffuse idiopathic skeletal hyperostosis 10.8 RPS3A PRDM10 GAPDH
39 retinitis pigmentosa 24 10.8 PRDM10 H2AC18 GAPDH
40 actinomycosis 10.8 PRDM10 H2AC18 GAPDH
41 drug-induced lupus erythematosus 10.8 PRDM10 H2AC18 GAPDH
42 tarp syndrome 10.8 GRIN2B GRIA1 DLG4
43 crouzon syndrome with acanthosis nigricans 10.8 GRIN2B GRIA1 DLG4
44 asperger syndrome 10.8 NRXN2 NLGN2 NLGN1 FMR1
45 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.8 RPS3A PRDM10 H2AC18 GAPDH
46 glioblastoma neural subtype 10.8 RPS3A PSMD4
47 griscelli syndrome, type 3 10.8 RPS3A PSMD4 PRDM10
48 parkinson disease, late-onset 10.8 RPS3A PRDM10 H2AC18 GRIN2B GRIA1 GAPDH
49 psychotic disorder 10.8 H2AC18 GRIN2B GRIA1 DLG4
50 distal arthrogryposis 10.7 RPS3A PRDM10 H2AC18 GAPDH

Graphical network of the top 20 diseases related to Kagami-Ogata Syndrome:



Diseases related to Kagami-Ogata Syndrome

Symptoms & Phenotypes for Kagami-Ogata Syndrome

Human phenotypes related to Kagami-Ogata Syndrome:

58 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 occasional (7.5%) Very frequent (99-80%) HP:0001263
3 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
4 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
5 anteverted nares 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000463
6 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
7 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
8 micrognathia 58 31 occasional (7.5%) Very frequent (99-80%) HP:0000347
9 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
10 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%) HP:0001561
11 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
12 large placenta 58 31 hallmark (90%) Very frequent (99-80%) HP:0006267
13 broad philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000289
14 poor head control 58 31 hallmark (90%) Very frequent (99-80%) HP:0002421
15 respiratory failure requiring assisted ventilation 58 31 hallmark (90%) Very frequent (99-80%) HP:0004887
16 poor suck 58 31 hallmark (90%) Very frequent (99-80%) HP:0002033
17 thoracic hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0005257
18 bell-shaped thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001591
19 delayed ability to sit 58 31 hallmark (90%) Very frequent (99-80%) HP:0025336
20 coat hanger sign of ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006665
21 frontal bossing 58 31 occasional (7.5%) Frequent (79-30%) HP:0002007
22 kyphoscoliosis 58 31 occasional (7.5%) Frequent (79-30%) HP:0002751
23 laryngomalacia 58 31 occasional (7.5%) Frequent (79-30%) HP:0001601
24 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
25 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
26 pursed lips 58 31 frequent (33%) Frequent (79-30%) HP:0000205
27 coxa valga 58 31 occasional (7.5%) Frequent (79-30%) HP:0002673
28 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
29 diastasis recti 58 31 frequent (33%) Frequent (79-30%) HP:0001540
30 large for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001520
31 omphalocele 58 31 occasional (7.5%) Frequent (79-30%) HP:0001539
32 frontal hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0011335
33 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
34 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
35 abnormality of the cardiovascular system 58 31 occasional (7.5%) Occasional (29-5%) HP:0001626
36 postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008897
37 hepatoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002884
38 overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001548
39 splenomegaly 31 occasional (7.5%) HP:0001744
40 hepatomegaly 31 occasional (7.5%) HP:0002240
41 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
42 atrial septal defect 31 occasional (7.5%) HP:0001631
43 hypoplasia of the maxilla 31 occasional (7.5%) HP:0000327
44 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
45 ventricular septal defect 31 occasional (7.5%) HP:0001629
46 pulmonic stenosis 31 occasional (7.5%) HP:0001642
47 pulmonary hypoplasia 31 occasional (7.5%) HP:0002089
48 thin ribs 31 occasional (7.5%) HP:0000883
49 generalized hypotonia 31 occasional (7.5%) HP:0001290
50 short palpebral fissure 31 occasional (7.5%) HP:0012745

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
depressed nasal bridge
anteverted nares (in some patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen External Features:
diastasis recti
inguinal hernia (in some patients)
omphalocele (in some patients)

Prenatal Manifestations Delivery:
premature delivery
low apgar scores

Skeletal:
joint contractures

Neurologic Central Nervous System:
seizures (rare)
hypotonia (in some patients)
developmental retardation (in some patients)

Cardiovascular Vascular:
patent ductus arteriosus (rare)
pulmonary hypertension (rare)

Abdomen Liver:
hepatomegaly (in some patients)

Head And Neck Head:
frontal bossing (in some patients)

Head And Neck Neck:
short neck or webbed neck

Respiratory Larynx:
laryngomalacia (rare)

Chest External Features:
small bell-shaped thorax

Abdomen Spleen:
splenomegaly (rare)

Skeletal Skull:
hypoplastic maxilla (rare)
hypoplastic mandible (rare)
small anterior fossa (rare)

Prenatal Manifestations Placenta And Umbilical Cord:
placental abnormality (in some patients)

Head And Neck Face:
retrognathia
micrognathia
hairy forehead
prominent or protruding philtrum
elongated philtrum
more
Head And Neck Eyes:
blepharophimosis
short palpebral fissures (in some patients)

Head And Neck Ears:
small ears

Cardiovascular Heart:
ventricular septal defect (in some patients)
pulmonary stenosis (rare)
atrial septal defect (in some patients)
aortic valve anomaly (rare)

Skeletal Limbs:
short limbs

Skeletal Spine:
kyphoscoliosis (in some patients)

Skeletal Hands:
long fingers (in some patients)

Skin Nails Hair Hair:
hairy forehead

Head And Neck Mouth:
puckered lips (in some patients)

Respiratory:
lethal respiratory failure (in some patients)

Respiratory Lung:
lung hypoplasia (rare)

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs (in some patients)
wavy or 'coat-hanger shaped' ribs (in some patients)
elongated clavicles (in some patients)

Abdomen Gastrointestinal:
feeding difficulty

Skeletal Pelvis:
hypoplasia of the ilia (in some patients)
coxa valga (in some patients)

Clinical features from OMIM:

608149

MGI Mouse Phenotypes related to Kagami-Ogata Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.83 DLG4 DLK1 FMR1 GAPDH GRIA1 GRIN2B
2 mortality/aging MP:0010768 9.44 DLG4 DLK1 GAPDH GRIN2B NLGN1 NLGN2

Drugs & Therapeutics for Kagami-Ogata Syndrome

Search Clinical Trials , NIH Clinical Center for Kagami-Ogata Syndrome

Genetic Tests for Kagami-Ogata Syndrome

Genetic tests related to Kagami-Ogata Syndrome:

# Genetic test Affiliating Genes
1 Paternal Uniparental Disomy of Chromosome 14 29

Anatomical Context for Kagami-Ogata Syndrome

MalaCards organs/tissues related to Kagami-Ogata Syndrome:

40
Lung, Placenta, Cortex

Publications for Kagami-Ogata Syndrome

Articles related to Kagami-Ogata Syndrome:

(show all 35)
# Title Authors PMID Year
1
Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion. 56 61
15747166 2005
2
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. 56
17702046 2007
3
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. 56
16152632 2005
4
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). 56
12938037 2003
5
Paternal UPD14 is responsible for a distinctive malformation complex. 56
12116236 2002
6
Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12. 56
10996796 2000
7
Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. 56
10951461 2000
8
Paternal uniparental disomy for chromosome 14: a case report and review. 56
9129745 1997
9
[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]. 61
31853915 2020
10
Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory. 61
32346853 2020
11
Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome. 61
31994200 2020
12
A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation. 61
32211354 2020
13
Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report. 61
31753000 2019
14
Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms. 61
30693591 2019
15
Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome. 61
30232357 2018
16
Anesthetic management of a child with Kagami-Ogata syndrome complicated with marked tracheal deviation: a case report. 61
32025889 2018
17
Snord116-dependent diurnal rhythm of DNA methylation in mouse cortex. 61
29691382 2018
18
Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. 61
29375845 2018
19
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. 61
28640239 2017
20
DLK1-DIO3 imprinted locus deregulation in development, respiratory disease, and cancer. 61
28715922 2017
21
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. 61
28635951 2017
22
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. 61
27632690 2017
23
Familial Kagami-Ogata syndrome in Chinese. 61
27753651 2017
24
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. 61
27406249 2016
25
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. 61
26377239 2016
26
Paternal Uniparental Disomy of Chromosome 14 with Hypospadias. 61
27300571 2016
27
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). 61
25689926 2015
28
Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. 61
26322139 2015
29
Paternal uniparental disomy of chromosome 14. 61
25179385 2014
30
Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy. 61
22797553 2012
31
Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14. 61
20656731 2010
32
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. 61
21731585 2009
33
A review of known imprinting syndromes and their association with assisted reproduction technologies. 61
18703582 2008
34
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. 61
17601927 2007
35
Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype. 61
15368501 2004

Variations for Kagami-Ogata Syndrome

ClinVar genetic disease variations for Kagami-Ogata Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 19 genes: MEG3 NC_000014.9:g.100489287_100900640del411354deletion Pathogenic 162009 14:100955624-101366977 14:100489287-100900640
2 DLK1 , LOC112163682 , MEG3 , MIR2392 NC_000014.9:g.100720531_100829298del108768deletion Pathogenic 162007 14:101186869-101295636 14:100720531-100829298
3 NR_039729.1(MIR2392):n.-10132_-1575deldeletion Pathogenic 162012 14:101270696-101279253 14:100804359-100812916
4 subset of 102 genes: MEG3 NC_000014.9:g.100806482_101281031del474550deletion Pathogenic 162011 14:101272819-101747368 14:100806482-101281031
5 MEG3 indel Pathogenic 162014 14:101291225-101295527 14:100824888-100829190

Expression for Kagami-Ogata Syndrome

Search GEO for disease gene expression data for Kagami-Ogata Syndrome.

Pathways for Kagami-Ogata Syndrome

GO Terms for Kagami-Ogata Syndrome

Cellular components related to Kagami-Ogata Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.97 SLC32A1 NLGN1 GRIA1 FMR1 DLG4
2 cell junction GO:0030054 9.97 SLC17A7 SLC17A6 NLGN2 NLGN1 GRIN2B GRIA1
3 postsynaptic density GO:0014069 9.83 NLGN1 GRIN2B GRIA1 FMR1 DLG4
4 dendritic spine GO:0043197 9.81 NLGN1 GRIA1 FMR1 DLG4
5 presynapse GO:0098793 9.8 NRXN2 NLGN1 FMR1 DLG4
6 postsynaptic membrane GO:0045211 9.8 NLGN2 GRIN2B GRIA1 FMR1 DLG4
7 neuron projection GO:0043005 9.8 SLC32A1 SLC17A7 SLC17A6 GRIN2B GRIA1 FMR1
8 synaptic vesicle GO:0008021 9.78 SLC32A1 SLC17A7 GRIA1 DLG4
9 synaptic vesicle membrane GO:0030672 9.76 SLC32A1 SLC17A7 SLC17A6
10 postsynapse GO:0098794 9.72 SLC17A7 NLGN1 GRIA1 FMR1 DLG4
11 postsynaptic density membrane GO:0098839 9.7 GRIN2B GRIA1 DLG4
12 integral component of synaptic vesicle membrane GO:0030285 9.63 SLC32A1 SLC17A7 SLC17A6
13 filopodium tip GO:0032433 9.61 NLGN1 FMR1
14 ionotropic glutamate receptor complex GO:0008328 9.61 GRIA1 DLG4
15 inhibitory synapse GO:0060077 9.6 SLC32A1 NLGN2
16 intracellular organelle GO:0043229 9.59 SLC32A1 SLC17A7
17 NMDA selective glutamate receptor complex GO:0017146 9.58 NLGN1 GRIN2B
18 spanning component of membrane GO:0089717 9.56 NLGN2 NLGN1
19 neuron spine GO:0044309 9.55 GRIA1 DLG4
20 cerebellar mossy fiber GO:0044300 9.54 SLC17A7 DLG4
21 synaptic membrane GO:0097060 9.46 NLGN1 GRIN2B GRIA1 DLG4
22 synapse GO:0045202 9.36 SLC32A1 SLC17A7 SLC17A6 RPS3A NRXN2 NLGN2
23 excitatory synapse GO:0060076 9.35 SLC17A7 SLC17A6 NLGN1 GRIA1 DLG4

Biological processes related to Kagami-Ogata Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 modulation of chemical synaptic transmission GO:0050804 9.76 NLGN2 NLGN1 GRIN2B GRIA1
2 synapse assembly GO:0007416 9.75 NRXN2 NLGN2 NLGN1
3 neurotransmitter transport GO:0006836 9.72 SLC32A1 SLC17A7 SLC17A6
4 positive regulation of excitatory postsynaptic potential GO:2000463 9.65 NLGN2 NLGN1 DLG4
5 L-glutamate transmembrane transport GO:0015813 9.64 SLC17A7 SLC17A6
6 glutamate receptor signaling pathway GO:0007215 9.63 GRIN2B FMR1
7 vocalization behavior GO:0071625 9.63 NRXN2 DLG4
8 presynapse assembly GO:0099054 9.62 NLGN2 NLGN1
9 receptor localization to synapse GO:0097120 9.62 NLGN1 DLG4
10 synaptic transmission, glutamatergic GO:0035249 9.62 SLC17A7 SLC17A6 GRIN2B GRIA1
11 locomotory exploration behavior GO:0035641 9.61 NLGN2 DLG4
12 positive regulation of synaptic transmission, GABAergic GO:0032230 9.61 NLGN2 NLGN1
13 neuron cell-cell adhesion GO:0007158 9.61 NRXN2 NLGN2 NLGN1
14 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.6 NLGN2 NLGN1
15 presynaptic membrane assembly GO:0097105 9.59 NLGN2 NLGN1
16 regulation of synapse structure or activity GO:0050803 9.58 SLC17A7 SLC17A6
17 protein localization to synapse GO:0035418 9.58 NLGN2 NLGN1 DLG4
18 positive regulation of synaptic vesicle clustering GO:2000809 9.57 NLGN2 NLGN1
19 positive regulation of protein localization to synapse GO:1902474 9.56 NLGN2 NLGN1
20 AMPA glutamate receptor clustering GO:0097113 9.54 NLGN1 DLG4
21 postsynaptic membrane assembly GO:0097104 9.54 NRXN2 NLGN2 NLGN1
22 postsynaptic specialization assembly GO:0098698 9.52 NLGN2 NLGN1
23 gephyrin clustering involved in postsynaptic density assembly GO:0097116 9.51 NRXN2 NLGN2
24 terminal button organization GO:0072553 9.49 NLGN2 NLGN1
25 regulation of NMDA receptor activity GO:2000310 9.46 NLGN1 GRIN2B GRIA1 DLG4
26 postsynaptic density protein 95 clustering GO:0097119 9.43 NRXN2 NLGN2 NLGN1
27 chemical synaptic transmission GO:0007268 9.17 SLC17A7 NRXN2 NLGN2 NLGN1 GRIN2B GRIA1
28 neurotransmitter loading into synaptic vesicle GO:0098700 9.13 SLC32A1 SLC17A7 SLC17A6

Molecular functions related to Kagami-Ogata Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.62 NLGN2 NLGN1 GRIN2B GRIA1
2 PDZ domain binding GO:0030165 9.54 NLGN1 GRIA1 DLG4
3 ionotropic glutamate receptor activity GO:0004970 9.46 GRIN2B GRIA1
4 neurexin family protein binding GO:0042043 9.43 NLGN2 NLGN1
5 amyloid-beta binding GO:0001540 9.43 NLGN1 GRIN2B GRIA1
6 L-glutamate transmembrane transporter activity GO:0005313 9.4 SLC17A7 SLC17A6
7 neurotransmitter transporter activity GO:0005326 9.16 SLC17A7 SLC17A6
8 cell adhesion molecule binding GO:0050839 9.13 NRXN2 NLGN2 NLGN1
9 neuroligin family protein binding GO:0097109 8.62 NRXN2 DLG4

Sources for Kagami-Ogata Syndrome

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11 DGIdb
17 EFO
18 ExPASy
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72 UMLS via Orphanet
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