MCID: KGM001
MIFTS: 28

Kagami-Ogata Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Kagami-Ogata Syndrome

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Sources:
24GeneTests, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Kagami-Ogata Syndrome:

Name: Kagami-Ogata Syndrome 52
Paternal Uniparental Disomy of Chromosome 14 54 27
Uniparental Disomy, Paternal, Chromosome 14 48 68
Multiple Congenital Anomalies Due to 14q32.2 Maternally Expressed Gene Defect 54
 
Mca Due to 14q32.2 Maternally Expressed Gene Defect 54
Paternal Uniparental Disomy, Chromosome 14 24
Paternal Uniparental Disomy 14 48
Upd(14)pat 54

Characteristics:

Orphanet epidemiological data:

54
multiple congenital anomalies due to 14q32.2 maternally expressed gene defect:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
kagami-ogata syndrome:
Inheritance: sporadic

Classifications:



External Ids:

OMIM52 608149
MESH via Orphanet40 C536471
UMLS via Orphanet69 C1842466
ICD10 via Orphanet31 Q99.8

Summaries for Kagami-Ogata Syndrome

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MalaCards based summary: Kagami-Ogata Syndrome, also known as paternal uniparental disomy of chromosome 14, is related to beckwith-wiedemann syndrome and temple syndrome, and has symptoms including inguinal hernia, retrognathia and hypoplasia of the maxilla. An important gene associated with Kagami-Ogata Syndrome is MEG3 (Maternally Expressed 3 (Non-Protein Coding)).

Description from OMIM:52 608149

Related Diseases for Kagami-Ogata Syndrome

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Graphical network of diseases related to Kagami-Ogata Syndrome:



Diseases related to kagami-ogata syndrome

Symptoms & Phenotypes for Kagami-Ogata Syndrome

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Symptoms by clinical synopsis from OMIM:

608149

Clinical features from OMIM:

608149

Human phenotypes related to Kagami-Ogata Syndrome:

 64 (show all 33)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 retrognathia64 HP:0000278
3 hypoplasia of the maxilla64 HP:0000327
4 micrognathia64 HP:0000347
5 anteverted nares64 HP:0000463
6 blepharophimosis64 HP:0000581
7 thin ribs64 HP:0000883
8 long clavicles64 HP:0000890
9 seizures64 HP:0001250
10 muscular hypotonia64 HP:0001252
11 global developmental delay64 HP:0001263
12 flexion contracture64 HP:0001371
13 omphalocele64 HP:0001539
14 diastasis recti64 HP:0001540
15 polyhydramnios64 HP:0001561
16 laryngomalacia64 HP:0001601
17 premature birth64 HP:0001622
18 ventricular septal defect64 HP:0001629
19 atrial septal defect64 HP:0001631
20 pulmonic stenosis64 HP:0001642
21 patent ductus arteriosus64 HP:0001643
22 splenomegaly64 HP:0001744
23 frontal bossing64 HP:0002007
24 pulmonary hypoplasia64 HP:0002089
25 pulmonary arterial hypertension64 HP:0002092
26 hepatomegaly64 HP:0002240
27 coxa valga64 HP:0002673
28 kyphoscoliosis64 HP:0002751
29 depressed nasal bridge64 HP:0005280
30 microtia64 HP:0008551
31 limb undergrowth64 HP:0009826
32 short palpebral fissure64 HP:0012745
33 long fingers64 HP:0100807

Drugs & Therapeutics for Kagami-Ogata Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Kagami-Ogata Syndrome

Genetic Tests for Kagami-Ogata Syndrome

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Genetic tests related to Kagami-Ogata Syndrome:

id Genetic test Affiliating Genes
1 Uniparental Disomy, Paternal, Chromosome 1427
2 Paternal Uniparental Disomy, Chromosome 1424

Anatomical Context for Kagami-Ogata Syndrome

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Publications for Kagami-Ogata Syndrome

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Articles related to Kagami-Ogata Syndrome:

idTitleAuthorsYear
1
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. (27632690)
2016
2
Familial Kagami-Ogata syndrome in Chinese. (27753651)
2016
3
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. (27406249)
2016
4
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. (26377239)
2016
5
Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. (26322139)
2015
6
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

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Clinvar genetic disease variations for Kagami-Ogata Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DLK1; MEG3; MIR2392NC_ 000014.9: g.100720531_ 100829298del108768deletionPathogenicGRCh38Chr 14, 100720531: 100829298
2subset of 18 genes:MEG3NC_ 000014.9: g.100489287_ 100900640del411354deletionPathogenicGRCh38Chr 14, 100489287: 100900640
3subset of 102 genes:MEG3NC_ 000014.9: g.100806482_ 101281031del474550deletionPathogenicGRCh38Chr 14, 100806482: 101281031
4NR_ 039729.1(MIR2392): n.-10132_ -1575deldeletionPathogenicGRCh38Chr 14, 100804359: 100812916
5MEG3NG_ 016853.2: g.50479_ 54781del4303insNC_ 000014.9: g.100833642_ 100833702indelPathogenicGRCh38Chr 14, 100824888: 100829190

Expression for genes affiliated with Kagami-Ogata Syndrome

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

Pathways for genes affiliated with Kagami-Ogata Syndrome

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GO Terms for genes affiliated with Kagami-Ogata Syndrome

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Sources for Kagami-Ogata Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet