MCID: MTR087
MIFTS: 30

Maternal Uniparental Disomy

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy

Summaries for Maternal Uniparental Disomy

MalaCards based summary : Maternal Uniparental Disomy is related to temple syndrome and maternal uniparental disomy of chromosome 1. An important gene associated with Maternal Uniparental Disomy is RTL1 (Retrotransposon Gag Like 1), and among its related pathways/superpathways are ECM-receptor interaction and Amoebiasis. Affiliated tissues include testes, brain and heart, and related phenotypes are cellular and growth/size/body region

Related Diseases for Maternal Uniparental Disomy

Diseases related to Maternal Uniparental Disomy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 temple syndrome 34.4 RTL1 MEG3 DLK1
2 maternal uniparental disomy of chromosome 1 34.1 LAMC2 LAMB3 LAMA3
3 maternal uniparental disomy of chromosome 16 33.8 SLX4 FANCA
4 silver-russell syndrome 33.1 MEST MEG3 H19-ICR DLK1
5 epidermolysis bullosa 30.1 LAMC2 LAMB3 LAMA3
6 junctional epidermolysis bullosa 30.0 LAMC2 LAMB3 LAMA3
7 fanconi anemia, complementation group p 29.7 SLX4 FANCA
8 maternal uniparental disomy of chromosome 6 12.6
9 maternal uniparental disomy of chromosome 2 12.6
10 maternal uniparental disomy of chromosome 9 12.6
11 maternal uniparental disomy of chromosome 4 12.6
12 maternal uniparental disomy of chromosome 22 12.6
13 maternal uniparental disomy of chromosome 21 12.6
14 maternal uniparental disomy of chromosome 13 12.6
15 prader-willi syndrome due to maternal uniparental disomy of chromosome 15 12.6
16 maternal uniparental disomy of chromosome x 12.5
17 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.5
18 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.5
19 prader-willi syndrome 12.0
20 mulchandani-bhoj-conlin syndrome 11.9
21 chromosomal triplication 10.8
22 diencephalic syndrome 10.7
23 uniparental disomy of chromosome 7 10.7
24 hypotonia 10.7
25 uniparental disomy of chromosome 14 10.6
26 precocious puberty 10.6
27 nondisjunction 10.5
28 scoliosis 10.4
29 kagami-ogata syndrome 10.4 RTL1 MEG3 DLK1
30 hydrocephalus 10.4
31 congenital hydrocephalus 10.4
32 down syndrome 10.3
33 autosomal recessive disease 10.3
34 placental insufficiency 10.3
35 dystonia 10.3
36 47,xyy 10.3
37 sgce myoclonus-dystonia 10.3
38 mosaic trisomy 14 10.3
39 mosaic trisomy 9 10.3
40 trisomy 2 mosaicism 10.3
41 uniparental disomy of chromosome 2 10.3
42 uniparental disomy of chromosome 6 10.3
43 myoclonus 10.3
44 uniparental disomy of chromosome 15 10.3
45 uniparental disomy of chromosome 1 10.3
46 angelman syndrome 10.2
47 autism 10.2
48 cryptorchidism, unilateral or bilateral 10.2
49 alacrima, achalasia, and mental retardation syndrome 10.2
50 autism spectrum disorder 10.2

Graphical network of the top 20 diseases related to Maternal Uniparental Disomy:



Diseases related to Maternal Uniparental Disomy

Symptoms & Phenotypes for Maternal Uniparental Disomy

MGI Mouse Phenotypes related to Maternal Uniparental Disomy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 CATSPER2 DLK1 FANCA FOXG1 GJC2 LAMC2
2 growth/size/body region MP:0005378 9.97 DLK1 FANCA FOXG1 GNRH1 LAMA3 LAMB3
3 craniofacial MP:0005382 9.73 FANCA FOXG1 LAMA3 LAMB3 LAMC2 SLX4
4 mortality/aging MP:0010768 9.73 DLK1 FANCA FOXG1 GJC2 LAMA3 LAMB3
5 skeleton MP:0005390 9.23 DLK1 FANCA FOXG1 GNRH1 LAMB3 LAMC2

Drugs & Therapeutics for Maternal Uniparental Disomy

Search Clinical Trials , NIH Clinical Center for Maternal Uniparental Disomy

Genetic Tests for Maternal Uniparental Disomy

Anatomical Context for Maternal Uniparental Disomy

MalaCards organs/tissues related to Maternal Uniparental Disomy:

41
Testes, Brain, Heart, Placenta, Eye, Thyroid, Cerebellum

Publications for Maternal Uniparental Disomy

Articles related to Maternal Uniparental Disomy:

(show top 50) (show all 454)
# Title Authors PMID Year
1
Early Social Cognitive Ability in Preschoolers with Prader-Willi Syndrome and Autism Spectrum Disorder. 38
31388797 2019
2
Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study. 38
31271556 2019
3
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14. 38
31427715 2019
4
Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome. 38
31270759 2019
5
Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome. 38
30973645 2019
6
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update. 38
31333129 2019
7
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. 38
31100449 2019
8
Single-Case Study of Appetite Control in Prader-Willi Syndrome, Over 12-Years by the Indian Extract Caralluma fimbriata. 38
31212875 2019
9
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. 38
30242100 2019
10
Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests. 38
30171908 2019
11
Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected. 38
31079043 2019
12
Compulsions in Prader-Willi syndrome: occurrence and severity as a function of genetic subtype. 38
31233206 2019
13
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. 38
30961659 2019
14
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. 38
30476144 2019
15
Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR. 38
30846001 2019
16
Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test. 38
29511852 2019
17
Increased brain age in adults with Prader-Willi syndrome. 38
30658944 2019
18
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. 38
30587166 2018
19
Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male. 38
30003711 2018
20
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. 38
29659920 2018
21
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. 38
29655892 2018
22
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. 38
30181735 2018
23
Molecular and clinical studies in 8 patients with Temple syndrome. 38
29468661 2018
24
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients. 38
29878129 2018
25
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome. 38
29546330 2018
26
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. 38
29681103 2018
27
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. 38
29352661 2018
28
Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults. 38
28984907 2018
29
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. 38
29250858 2018
30
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism. 38
29311684 2018
31
First Case Report of Prader-Willi-Like Syndrome in Colombia. 38
29619043 2018
32
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome. 38
30836360 2018
33
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features. 38
30555519 2018
34
Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report. 38
30598700 2018
35
Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader-Willi syndrome. 38
29433608 2018
36
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. 38
28640239 2017
37
Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children. 38
29146936 2017
38
[Neonatal presentation of Prader-Willi syndrome: A report of five cases]. 38
28967604 2017
39
A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22. 38
28840990 2017
40
The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism? 38
29178649 2017
41
Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case. 38
28620746 2017
42
Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. 38
28938886 2017
43
Aberrant White Matter Microstructure in Children and Adolescents With the Subtype of Prader-Willi Syndrome at High Risk for Psychosis. 38
28510708 2017
44
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. 38
28624953 2017
45
Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself. 38
28032339 2017
46
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease. 38
28197878 2017
47
Low dose growth hormone treatment in infants and toddlers with Prader-Willi syndrome is comparable to higher dosage regimens. 38
28427039 2017
48
Incidental memory for faces in children with different genetic subtypes of Prader-Willi syndrome. 38
28338743 2017
49
Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation. 38
28588434 2017
50
Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome. 38
28317263 2017

Variations for Maternal Uniparental Disomy

Expression for Maternal Uniparental Disomy

Search GEO for disease gene expression data for Maternal Uniparental Disomy.

Pathways for Maternal Uniparental Disomy

Pathways related to Maternal Uniparental Disomy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 LAMC2 LAMB3 LAMA3
2 11.34 LAMC2 LAMB3 LAMA3
3 11.1 LAMC2 LAMB3 LAMA3
4 10.58 LAMC2 LAMB3 LAMA3

GO Terms for Maternal Uniparental Disomy

Cellular components related to Maternal Uniparental Disomy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.13 LAMC2 LAMB3 LAMA3
2 laminin-5 complex GO:0005610 8.62 LAMB3 LAMA3

Biological processes related to Maternal Uniparental Disomy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endodermal cell differentiation GO:0035987 9.16 LAMB3 LAMA3
2 epidermis development GO:0008544 9.13 LAMC2 LAMB3 LAMA3
3 hemidesmosome assembly GO:0031581 8.8 LAMC2 LAMB3 LAMA3

Sources for Maternal Uniparental Disomy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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