KOS
MCID: KGM001
MIFTS: 54

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 57 12 20 58 36 15 39
Paternal Uniparental Disomy of Chromosome 14 20 29 6
Uniparental Disomy, Paternal, Chromosome 14 57 70
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 20
Paternal Uniparental Disomy 14 20
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®:

57 (Updated 05-Apr-2021)
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 temple 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 placenta, eye and heart, and related phenotypes are coat hanger sign of ribs and intellectual disability

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 130)
# Related Disease Score Top Affiliating Genes
1 kaufman oculocerebrofacial syndrome 32.8 TENM3 SLC32A1 SLC17A7 SLC17A6 NRXN2 NLGN2
2 temple syndrome 31.6 RTL1 PPIEL MEG3 DLK1
3 beckwith-wiedemann syndrome 31.5 RTL1 MEG3 H2AC18 FMR1 DLK1
4 silver-russell syndrome 1 31.2 RTL1 MEG3 H2AC18 DLK1
5 varicose veins 11.0
6 polyhydramnios 10.6
7 maternal uniparental disomy 10.6 RTL1 MEG3 DLK1
8 tarp syndrome 10.6 GRIN2B GRIA2 GRIA1 DLG4
9 retrograde amnesia 10.6 GRIN2B GRIA2 GRIA1
10 wilson-turner x-linked mental retardation syndrome 10.6 TENM3 H2AC18 GAPDH DLG4 ACTB
11 amnestic disorder 10.6 GRIN2B GRIA1 DLG4
12 actinomycosis 10.6 H2AC18 GAPDH ACTB
13 toxic encephalopathy 10.6 H2AC18 GRIN2B GRIA1 GAPDH DLG4 ACTB
14 drug-induced lupus erythematosus 10.6 H2AC18 GAPDH ACTB
15 cerebral degeneration 10.6 H2AC18 GAPDH DLG4 ACTB
16 retinitis pigmentosa 24 10.6 H2AC18 GAPDH ACTB
17 pitt-hopkins-like syndrome 1 10.6 NRXN2 NLGN2 NLGN1
18 specific developmental disorder 10.6 H2AC18 GRIN2B GRIA1 GAPDH FMR1 DLG4
19 huntington disease 10.6 MEG3 GRIN2B GRIA2 GRIA1 FMR1 DLG4
20 phelan-mcdermid syndrome 10.6 NRXN2 FMR1 DLG4
21 crouzon syndrome with acanthosis nigricans 10.6 GRIN2B GRIA1 DLG4
22 x-linked monogenic disease 10.6 H2AC18 GRIA2 GRIA1 GAPDH FMR1 DLG4
23 retinitis pigmentosa 18 10.6 H2AC18 GAPDH ACTB
24 hematuria, benign familial 10.6 SLC32A1 SLC17A6 GAPDH ACTB
25 retinitis pigmentosa 23 10.6 H2AC18 GAPDH ACTB
26 psychotic disorder 10.6 H2AC18 GRIN2B GRIA1 DLG4
27 leukemia, acute monocytic 10.6 H2AC18 GAPDH ACTB
28 bipolar disorder 10.6 SLC17A7 PPIEL GRIN2B GRIA2 GRIA1 DLG4
29 hereditary lymphedema 10.6 H2AC18 GAPDH ACTB
30 hereditary lymphedema i 10.6 H2AC18 GAPDH ACTB
31 mulibrey nanism 10.6 H2AC18 GAPDH ACTB
32 parkinson disease, late-onset 10.6 H2AC18 GRIN2B GRIA2 GRIA1 GAPDH FMR1
33 pervasive developmental disorder 10.6 SLC32A1 SLC17A7 NRXN2 NLGN2 NLGN1 H2AC18
34 intestinal disaccharidase deficiency 10.6 GAPDH FMR1
35 mental depression 10.6 H2AC18 GRIN2B GRIA1
36 ovary adenocarcinoma 10.6 H2AC18 GAPDH ACTB
37 ectodermal dysplasia 1, hypohidrotic, x-linked 10.6 H2AC18 GAPDH ACTB
38 herpes simplex 10.6
39 hypotrichosis 2 10.6 H2AC18 GAPDH ACTB
40 fragile x syndrome 10.6 SLC17A7 NRXN2 NLGN2 NLGN1 H2AC18 GRIN2B
41 schizophrenia 10.5 SLC32A1 SLC17A7 SLC17A6 NLGN1 GRIN2B GRIA2
42 lens disease 10.5 H2AC18 GAPDH ACTB
43 autism 10.5 NRXN2 NLGN2 NLGN1 GRIN2B GRIA2 GRIA1
44 hypotrichosis 1 10.5 H2AC18 GAPDH ACTB
45 hair disease 10.5 H2AC18 GAPDH ACTB
46 speech disorder 10.5 H2AC18 GRIN2B FMR1
47 paternal uniparental disomy 10.5
48 migraine with or without aura 1 10.5 H2AC18 GRIN2B GRIA1 FMR1
49 suppression of tumorigenicity 12 10.5 H2AC18 GAPDH ACTB
50 chromosomal duplication syndrome 10.5 H2AC18 FMR1 DLG4

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 161)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coat hanger sign of ribs 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Obligate (100%) HP:0006665
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
4 short neck 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000470
5 global developmental delay 58 31 occasional (7.5%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001263
6 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%),Occasional (29-5%),Frequent (79-30%) HP:0005280
7 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
8 anteverted nares 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%),Occasional (29-5%) HP:0000463
9 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
10 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
11 micrognathia 58 31 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0000347
12 webbed neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000465
13 polyhydramnios 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001561
14 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
15 large placenta 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0006267
16 broad philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000289
17 poor head control 58 31 hallmark (90%) Very frequent (99-80%) HP:0002421
18 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0011968
19 respiratory failure requiring assisted ventilation 58 31 hallmark (90%) Very frequent (99-80%) HP:0004887
20 poor suck 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002033
21 thoracic hypoplasia 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%) HP:0005257
22 bell-shaped thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0001591
23 delayed ability to sit 58 31 hallmark (90%) Very frequent (99-80%) HP:0025336
24 frontal bossing 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002007
25 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
26 macroglossia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000158
27 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000023
28 umbilical hernia 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001537
29 microtia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0008551
30 postnatal growth retardation 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0008897
31 retrognathia 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000278
32 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0000767
33 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
34 kyphoscoliosis 58 31 occasional (7.5%) Frequent (79-30%),Frequent (79-30%) HP:0002751
35 laryngomalacia 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0001601
36 deep philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0002002
37 blepharophimosis 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000581
38 pursed lips 58 31 frequent (33%) Frequent (79-30%) HP:0000205
39 coxa valga 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002673
40 premature birth 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001622
41 large for gestational age 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0001520
42 omphalocele 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001539
43 diastasis recti 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001540
44 respiratory failure 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002878
45 short palpebral fissure 58 31 occasional (7.5%) Frequent (79-30%) HP:0012745
46 spontaneous abortion 58 31 frequent (33%) Frequent (79-30%) HP:0005268
47 hypoplastic iliac wing 58 31 frequent (33%) Frequent (79-30%) HP:0002866
48 frontal hirsutism 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0011335
49 chin with horizontal crease 58 31 frequent (33%) Frequent (79-30%) HP:0011823
50 hypotonia 31 occasional (7.5%) HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Kagami-Ogata Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ACTB DLG4 FMR1 GRIA1 GRIA2 GRIN2B
2 growth/size/body region MP:0005378 10.13 ACTB DLG4 DLK1 FMR1 GAPDH GRIA1
3 mortality/aging MP:0010768 10 ACTB DLG4 DLK1 GAPDH GRIA2 GRIN2B
4 nervous system MP:0003631 9.77 ACTB DLG4 FMR1 GRIA1 GRIA2 GRIN2B
5 normal MP:0002873 9.23 ACTB GRIA1 GRIA2 NLGN1 NRXN2 SLC17A6

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
Placenta, Eye, Heart, Lung, Cortex

Publications for Kagami-Ogata Syndrome

Articles related to Kagami-Ogata Syndrome:

(show all 42)
# Title Authors PMID Year
1
Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms. 57 61
32592473 2020
2
Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion. 61 57
15747166 2005
3
The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. 6
20585555 2010
4
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. 6
18176563 2008
5
Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. 57
17702046 2007
6
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. 57
16152632 2005
7
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). 57
12938037 2003
8
Paternal UPD14 is responsible for a distinctive malformation complex. 57
12116236 2002
9
Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12. 57
10996796 2000
10
Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. 57
10951461 2000
11
Paternal uniparental disomy for chromosome 14: a case report and review. 57
9129745 1997
12
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3. 61
33067531 2021
13
Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome. 61
33579810 2021
14
Prenatal diagnosis of Kagami-Ogata syndrome. 61
33179779 2020
15
Anesthetic management of a 12-year-old child with Kagami-Ogata syndrome for pectus excavatum: a case report. 61
33190208 2020
16
Detection of copy number variants with chromosomal microarray in 10 377 pregnancies at a single laboratory. 61
32346853 2020
17
[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]. 61
31853915 2020
18
Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome. 61
31994200 2020
19
A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation. 61
32211354 2020
20
Kagami-Ogata syndrome in a fetus presenting with polyhydramnios, malformations, and preterm delivery: a case report. 61
31753000 2019
21
Single-nucleotide polymorphism-based chromosomal microarray analysis provides clues and insights into disease mechanisms. 61
30693591 2019
22
Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome. 61
30232357 2018
23
Anesthetic management of a child with Kagami-Ogata syndrome complicated with marked tracheal deviation: a case report. 61
32025889 2018
24
Snord116-dependent diurnal rhythm of DNA methylation in mouse cortex. 61
29691382 2018
25
Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. 61
29375845 2018
26
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. 61
28640239 2017
27
DLK1-DIO3 imprinted locus deregulation in development, respiratory disease, and cancer. 61
28715922 2017
28
New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. 61
28635951 2017
29
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. 61
27632690 2017
30
Familial Kagami-Ogata syndrome in Chinese. 61
27753651 2017
31
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. 61
27406249 2016
32
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. 61
26377239 2016
33
Paternal Uniparental Disomy of Chromosome 14 with Hypospadias. 61
27300571 2016
34
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). 61
25689926 2015
35
Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. 61
26322139 2015
36
Paternal uniparental disomy of chromosome 14. 61
25179385 2014
37
Segmental paternal uniparental disomy of chromosome 14 in a 4-year-old boy. 61
22797553 2012
38
Coat hanger appearances of the ribs: a useful diagnostic marker of paternal uniparental disomy of chromosome 14. 61
20656731 2010
39
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. 61
21731585 2009
40
A review of known imprinting syndromes and their association with assisted reproduction technologies. 61
18703582 2008
41
Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. 61
17601927 2007
42
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 Position
1 overlap with 4 genes NC_000014.9:g.100720531_100829298del108768 Deletion Pathogenic 162007 GRCh37: 14:101186869-101295636
GRCh38: 14:100720531-100829298
2 overlap with 19 genes NC_000014.9:g.100489287_100900640del411354 Deletion Pathogenic 162009 GRCh37: 14:100955624-101366977
GRCh38: 14:100489287-100900640
3 overlap with 102 genes NC_000014.9:g.100806482_101281031del474550 Deletion Pathogenic 162011 GRCh37: 14:101272819-101747368
GRCh38: 14:100806482-101281031
4 MEG3 Indel Pathogenic 162014 GRCh37: 14:101291225-101295527
GRCh38: 14:100824888-100829190

Expression for Kagami-Ogata Syndrome

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

Pathways for Kagami-Ogata Syndrome

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 SLC32A1 SLC17A7 NRXN2 NLGN2 NLGN1 GRIN2B
2
Show member pathways
12.55 SLC17A7 SLC17A6 GRIN2B GRIA2 GRIA1 DLG4
3
Show member pathways
12.39 SLC32A1 SLC17A7 SLC17A6 GRIA2 GRIA1
4 12.09 SLC17A7 SLC17A6 GRIN2B GRIA2 GRIA1 GAPDH
5
Show member pathways
12.05 GRIN2B GRIA2 GRIA1 DLG4
6
Show member pathways
11.83 GRIN2B GRIA2 GRIA1 DLG4
7
Show member pathways
11.77 GRIN2B GRIA2 GRIA1 ACTB
8
Show member pathways
11.75 NRXN2 NLGN2 NLGN1 GRIN2B GRIA1 DLG4
9
Show member pathways
11.66 GRIN2B GRIA2 GRIA1
10
Show member pathways
11.62 GRIA2 GRIA1 DLG4
11 10.94 GRIN2B GRIA2 GRIA1
12 10.82 NRXN2 ACTB
13 10.82 GRIN2B GRIA1 DLG4
14 10.7 SLC32A1 SLC17A7 SLC17A6 GRIN2B GRIA2 GRIA1

GO Terms for Kagami-Ogata Syndrome

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.48 TENM3 SLC32A1 SLC17A7 SLC17A6 RTL1 NRXN2
2 plasma membrane GO:0005886 10.38 TENM3 SLC32A1 SLC17A7 NRXN2 NLGN2 NLGN1
3 cell junction GO:0030054 10.02 SLC17A7 SLC17A6 NLGN2 NLGN1 GRIN2B GRIA2
4 dendrite GO:0030425 10 SLC32A1 NLGN1 GRIA2 GRIA1 FMR1 DLG4
5 postsynaptic density GO:0014069 9.93 NLGN1 GRIN2B GRIA2 GRIA1 FMR1 DLG4
6 presynapse GO:0098793 9.89 NRXN2 NLGN1 FMR1 DLG4 ACTB
7 dendritic spine GO:0043197 9.88 NLGN1 GRIA2 GRIA1 FMR1 DLG4
8 synaptic vesicle membrane GO:0030672 9.81 SLC32A1 SLC17A7 SLC17A6 GRIA1
9 postsynaptic membrane GO:0045211 9.8 NLGN2 GRIN2B GRIA2 GRIA1 FMR1 DLG4
10 endocytic vesicle membrane GO:0030666 9.76 GRIA2 GRIA1 DLG4
11 neuron projection GO:0043005 9.76 TENM3 SLC32A1 SLC17A7 SLC17A6 GRIN2B GRIA1
12 postsynaptic density membrane GO:0098839 9.73 GRIN2B GRIA2 GRIA1 DLG4
13 postsynapse GO:0098794 9.73 SLC17A7 NLGN1 GRIA2 GRIA1 FMR1 DLG4
14 integral component of synaptic vesicle membrane GO:0030285 9.72 SLC32A1 SLC17A7 SLC17A6
15 AMPA glutamate receptor complex GO:0032281 9.71 GRIA2 GRIA1 DLG4
16 synaptic membrane GO:0097060 9.71 NLGN1 GRIN2B GRIA1 DLG4
17 filopodium tip GO:0032433 9.62 NLGN1 FMR1
18 intracellular organelle GO:0043229 9.62 SLC32A1 SLC17A7
19 ionotropic glutamate receptor complex GO:0008328 9.61 GRIA1 DLG4
20 inhibitory synapse GO:0060077 9.61 SLC32A1 NLGN2
21 NMDA selective glutamate receptor complex GO:0017146 9.6 NLGN1 GRIN2B
22 spanning component of membrane GO:0089717 9.59 NLGN2 NLGN1
23 neuron spine GO:0044309 9.56 GRIA1 DLG4
24 excitatory synapse GO:0060076 9.43 SLC17A7 SLC17A6 NLGN1 GRIA2 GRIA1 DLG4
25 synapse GO:0045202 9.4 SLC32A1 SLC17A7 SLC17A6 NRXN2 NLGN2 NLGN1

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.06 SLC32A1 SLC17A7 SLC17A6 GRIN2B GRIA2 GRIA1
2 synapse assembly GO:0007416 9.77 NRXN2 NLGN2 NLGN1
3 neurotransmitter transport GO:0006836 9.75 SLC32A1 SLC17A7 SLC17A6
4 synaptic vesicle endocytosis GO:0048488 9.71 NLGN2 NLGN1 ACTB
5 vocalization behavior GO:0071625 9.65 NRXN2 DLG4
6 synaptic transmission, glutamatergic GO:0035249 9.65 SLC17A7 SLC17A6 GRIA2
7 L-glutamate transmembrane transport GO:0015813 9.64 SLC17A7 SLC17A6
8 glutamate receptor signaling pathway GO:0007215 9.64 GRIN2B FMR1
9 presynapse assembly GO:0099054 9.63 NLGN2 NLGN1
10 locomotory exploration behavior GO:0035641 9.63 NLGN2 DLG4
11 positive regulation of excitatory postsynaptic potential GO:2000463 9.63 NLGN2 NLGN1 DLG4
12 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.62 NLGN2 NLGN1
13 receptor localization to synapse GO:0097120 9.62 NLGN1 DLG4
14 positive regulation of synaptic transmission, GABAergic GO:0032230 9.61 NLGN2 NLGN1
15 presynaptic membrane assembly GO:0097105 9.61 NLGN2 NLGN1
16 ionotropic glutamate receptor signaling pathway GO:0035235 9.61 GRIN2B GRIA2 GRIA1
17 regulation of synapse structure or activity GO:0050803 9.6 SLC17A7 SLC17A6
18 neuron cell-cell adhesion GO:0007158 9.58 NRXN2 NLGN2 NLGN1
19 positive regulation of protein localization to synapse GO:1902474 9.57 NLGN2 NLGN1
20 gephyrin clustering involved in postsynaptic density assembly GO:0097116 9.56 NRXN2 NLGN2
21 AMPA glutamate receptor clustering GO:0097113 9.55 NLGN1 DLG4
22 protein localization to synapse GO:0035418 9.54 NLGN2 NLGN1 DLG4
23 positive regulation of synaptic vesicle clustering GO:2000809 9.52 NLGN2 NLGN1
24 postsynaptic specialization assembly GO:0098698 9.51 NLGN2 NLGN1
25 postsynaptic membrane assembly GO:0097104 9.5 NRXN2 NLGN2 NLGN1
26 chemical synaptic transmission GO:0007268 9.5 NRXN2 NLGN2 NLGN1 GRIN2B GRIA2 GRIA1
27 terminal button organization GO:0072553 9.49 NLGN2 NLGN1
28 postsynaptic density protein 95 clustering GO:0097119 9.43 NRXN2 NLGN2 NLGN1
29 neurotransmitter loading into synaptic vesicle GO:0098700 9.33 SLC32A1 SLC17A7 SLC17A6
30 regulation of NMDA receptor activity GO:2000310 9.02 NLGN1 GRIN2B GRIA2 GRIA1 DLG4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.65 NLGN2 NLGN1 GRIN2B GRIA2 GRIA1
2 PDZ domain binding GO:0030165 9.61 NLGN1 GRIA1 DLG4
3 ligand-gated ion channel activity GO:0015276 9.5 GRIN2B GRIA2 GRIA1
4 neurotransmitter transporter activity GO:0005326 9.49 SLC17A7 SLC17A6
5 neurexin family protein binding GO:0042043 9.48 NLGN2 NLGN1
6 L-glutamate transmembrane transporter activity GO:0005313 9.46 SLC17A7 SLC17A6
7 amyloid-beta binding GO:0001540 9.46 NLGN1 GRIN2B GRIA2 GRIA1
8 neuroligin family protein binding GO:0097109 9.4 NRXN2 DLG4
9 AMPA glutamate receptor activity GO:0004971 9.37 GRIA2 GRIA1
10 ionotropic glutamate receptor activity GO:0004970 9.13 GRIN2B GRIA2 GRIA1
11 cell adhesion molecule binding GO:0050839 8.92 TENM3 NRXN2 NLGN2 NLGN1

Sources for Kagami-Ogata 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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