MCID: KGM001
MIFTS: 33

Kagami-Ogata Syndrome

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Kagami-Ogata Syndrome

MalaCards integrated aliases for Kagami-Ogata Syndrome:

Name: Kagami-Ogata Syndrome 57 53 59 37
Uniparental Disomy, Paternal, Chromosome 14 57 29 6 73
Mca Due to 14q32.2 Maternally Expressed Gene Defect 53 59
Paternal Uniparental Disomy of Chromosome 14 53 59
Multiple Congenital Anomalies Due to 14q32.2 Maternally Expressed Gene Defect 59
Maternal 14q32.2 Hypermethylation Syndrome 59
Maternal 14q32.2 Microdeletion Syndrome 59
Paternal Uniparental Disomy 14 53
Maternal Monosomy 14q32.2 59
Maternal Del(14)(q32.2) 59
Upd(14)pat 59
Kos 59

Characteristics:

Orphanet epidemiological data:

59
kagami-ogata syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
maternal 14q32.2 microdeletion syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
maternal 14q32.2 hypermethylation syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
isolated cases

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


HPO:

32
kagami-ogata syndrome:
Inheritance sporadic


Classifications:



Summaries for Kagami-Ogata Syndrome

MalaCards based summary : Kagami-Ogata Syndrome, also known as uniparental disomy, paternal, chromosome 14, is related to temple syndrome and platelet groups--ko system. An important gene associated with Kagami-Ogata Syndrome is KAOGS (Kagami-Ogata Syndrome). Affiliated tissues include lung, and related phenotypes are frontal bossing and seizures

Description from OMIM: 608149

Related Diseases for Kagami-Ogata Syndrome

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



Diseases related to Kagami-Ogata Syndrome

Symptoms & Phenotypes for Kagami-Ogata Syndrome

Symptoms via clinical synopsis from OMIM:

57
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)

Skeletal Hands:
long fingers (in some patients)

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

AbdomenSpleen:
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:
micrognathia
retrognathia
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

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

Skeletal Spine:
kyphoscoliosis (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

Human phenotypes related to Kagami-Ogata Syndrome:

32 (show all 35)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 occasional (7.5%) HP:0002007
2 seizures 32 occasional (7.5%) HP:0001250
3 inguinal hernia 32 occasional (7.5%) HP:0000023
4 global developmental delay 32 occasional (7.5%) HP:0001263
5 splenomegaly 32 occasional (7.5%) HP:0001744
6 hepatomegaly 32 occasional (7.5%) HP:0002240
7 depressed nasal bridge 32 HP:0005280
8 microtia 32 HP:0008551
9 anteverted nares 32 occasional (7.5%) HP:0000463
10 flexion contracture 32 HP:0001371
11 laryngomalacia 32 occasional (7.5%) HP:0001601
12 long philtrum 32 HP:0000343
13 micrognathia 32 occasional (7.5%) HP:0000347
14 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
15 retrognathia 32 HP:0000278
16 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
17 coxa valga 32 occasional (7.5%) HP:0002673
18 atrial septal defect 32 occasional (7.5%) HP:0001631
19 thin ribs 32 occasional (7.5%) HP:0000883
20 hypoplasia of the maxilla 32 occasional (7.5%) HP:0000327
21 polyhydramnios 32 HP:0001561
22 ventricular septal defect 32 occasional (7.5%) HP:0001629
23 blepharophimosis 32 HP:0000581
24 pulmonic stenosis 32 occasional (7.5%) HP:0001642
25 diastasis recti 32 HP:0001540
26 omphalocele 32 occasional (7.5%) HP:0001539
27 premature birth 32 HP:0001622
28 kyphoscoliosis 32 occasional (7.5%) HP:0002751
29 pulmonary hypoplasia 32 occasional (7.5%) HP:0002089
30 short palpebral fissure 32 occasional (7.5%) HP:0012745
31 generalized hypotonia 32 occasional (7.5%) HP:0001290
32 limb undergrowth 32 HP:0009826
33 long fingers 32 occasional (7.5%) HP:0100807
34 long clavicles 32 occasional (7.5%) HP:0000890
35 frontal hirsutism 32 HP:0011335

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 Uniparental Disomy, Paternal, Chromosome 14 29

Anatomical Context for Kagami-Ogata Syndrome

MalaCards organs/tissues related to Kagami-Ogata Syndrome:

41
Lung

Publications for Kagami-Ogata Syndrome

Articles related to Kagami-Ogata Syndrome:

# Title Authors Year
1
Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. ( 29375845 )
2018
2
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. ( 27632690 )
2016
3
Familial Kagami-Ogata syndrome in Chinese. ( 27753651 )
2016
4
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. ( 26377239 )
2016
5
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. ( 27406249 )
2016
6
Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. ( 26322139 )
2015
7
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). ( 25689926 )
2015

Variations for Kagami-Ogata Syndrome

ClinVar genetic disease variations for Kagami-Ogata Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 subset of 18 genes:MEG3 NC_000014.9: g.100489287_100900640del411354 deletion Pathogenic GRCh38 Chromosome 14, 100489287: 100900640
2 DLK1; MEG3; MIR2392 NC_000014.9: g.100720531_100829298del108768 deletion Pathogenic GRCh38 Chromosome 14, 100720531: 100829298
3 NR_039729.1(MIR2392): n.-10132_-1575del deletion Pathogenic GRCh38 Chromosome 14, 100804359: 100812916
4 NR_039729.1(MIR2392): n.-10132_-1575del deletion Pathogenic GRCh37 Chromosome 14, 101270696: 101279253
5 subset of 102 genes:MEG3 NC_000014.9: g.100806482_101281031del474550 deletion Pathogenic GRCh38 Chromosome 14, 100806482: 101281031
6 MEG3 NG_016853.2: g.50479_54781del4303insNC_000014.9: g.100833642_100833702 indel Pathogenic GRCh38 Chromosome 14, 100824888: 100829190
7 MEG3 NG_016853.2: g.50479_54781del4303insNC_000014.9: g.100833642_100833702 indel Pathogenic GRCh37 Chromosome 14, 101291225: 101295527

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

Sources for Kagami-Ogata Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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