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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Kagami-Ogata Syndrome:

Name: Kagami-Ogata Syndrome 50
Paternal Uniparental Disomy of Chromosome 14 52 25
Uniparental Disomy, Paternal, Chromosome 14 46 66
Multiple Congenital Anomalies Due to 14q32.2 Maternally Expressed Gene Defect 52
 
Mca Due to 14q32.2 Maternally Expressed Gene Defect 52
Paternal Uniparental Disomy, Chromosome 14 23
Paternal Uniparental Disomy 14 46
Upd(14)pat 52

Characteristics:

Orphanet epidemiological data:

52
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

Classifications:



External Ids:

OMIM50 608149
ICD10 via Orphanet29 Q99.8
MESH via Orphanet38 C536471
UMLS via Orphanet67 C1842466

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, hypoplasia of the maxilla and micrognathia. An important gene associated with Kagami-Ogata Syndrome is MEG3 (Maternally Expressed 3 (Non-Protein Coding)).

Description from OMIM:50 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 for Kagami-Ogata Syndrome

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Symptoms by clinical synopsis from OMIM:

608149

Clinical features from OMIM:

608149

HPO human phenotypes related to Kagami-Ogata Syndrome:

(show all 34)
id Description Frequency HPO Source Accession
1 inguinal hernia rare (5%) HP:0000023
2 hypoplasia of the maxilla rare (5%) HP:0000327
3 micrognathia rare (5%) HP:0000347
4 anteverted nares rare (5%) HP:0000463
5 thin ribs rare (5%) HP:0000883
6 long clavicles rare (5%) HP:0000890
7 seizures rare (5%) HP:0001250
8 muscular hypotonia rare (5%) HP:0001252
9 global developmental delay rare (5%) HP:0001263
10 omphalocele rare (5%) HP:0001539
11 laryngomalacia rare (5%) HP:0001601
12 ventricular septal defect rare (5%) HP:0001629
13 atria septal defect rare (5%) HP:0001631
14 pulmonic stenosis rare (5%) HP:0001642
15 patent ductus arteriosus rare (5%) HP:0001643
16 splenomegaly rare (5%) HP:0001744
17 frontal bossing rare (5%) HP:0002007
18 pulmonary hypoplasia rare (5%) HP:0002089
19 pulmonary hypertension rare (5%) HP:0002092
20 hepatomegaly rare (5%) HP:0002240
21 coxa valga rare (5%) HP:0002673
22 kyphoscoliosis rare (5%) HP:0002751
23 short palpebral fissure rare (5%) HP:0012745
24 long fingers rare (5%) HP:0100807
25 retrognathia HP:0000278
26 micrognathia HP:0000347
27 blepharophimosis HP:0000581
28 flexion contracture HP:0001371
29 diastasis recti HP:0001540
30 polyhydramnios HP:0001561
31 premature birth HP:0001622
32 depressed nasal bridge HP:0005280
33 microtia HP:0008551
34 limb undergrowth HP:0009826

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 1425
2 Paternal Uniparental Disomy, Chromosome 1423

Anatomical Context for Kagami-Ogata Syndrome

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Animal Models for Kagami-Ogata Syndrome or affiliated genes

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Publications for Kagami-Ogata Syndrome

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Articles related to Kagami-Ogata Syndrome:

idTitleAuthorsYear
1
Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. (26377239)
2016
2
Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. (27632690)
2016
3
Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. (27406249)
2016
4
Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions. (26322139)
2015
5
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
1NC_000014.9: g.100720531_100829298del108768deletionPathogenicGRCh38Chr 14, 100720531: 100829298
2more than 10NC_000014.9: g.100489287_100900640del411354deletionPathogenicGRCh38Chr 14, 100489287: 100900640
3more than 10NC_000014.9: g.100806482_101281031del474550deletionPathogenicGRCh38Chr 14, 100806482: 101281031
4NR_039729.1(MIR2392): n.-10132_-1575deldeletionPathogenicGRCh38Chr 14, 100804359: 100812916
5MEG3NG_016853.1: g.3781_8083del4303insNC_000014.9: g.100833642_100833702indelPathogenicGRCh37Chr 14, 101291225: 101295527

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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet