MCID: MTR087
MIFTS: 30

Maternal Uniparental Disomy

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Maternal Uniparental Disomy

MalaCards integrated aliases for Maternal Uniparental Disomy:

Name: Maternal Uniparental Disomy 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q99.8
Orphanet 58 ORPHA98153

Summaries for Maternal Uniparental Disomy

MalaCards based summary : Maternal Uniparental Disomy is related to maternal uniparental disomy of chromosome 1 and maternal uniparental disomy of chromosome 16. 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 150)
# Related Disease Score Top Affiliating Genes
1 maternal uniparental disomy of chromosome 1 34.0 LAMC2 LAMB3 LAMA3
2 maternal uniparental disomy of chromosome 16 33.9 SLX4 FANCA
3 temple syndrome 33.6 RTL1 MEST MEG3 DLK1
4 prader-willi syndrome 33.1 SCG2 MEST GNRH1 DLK1
5 silver-russell syndrome 1 32.1 SGCE RTL1 MEST MEG3 H19-ICR DLK1
6 uniparental disomy of chromosome 14 31.5 FOXG1 DLK1
7 kagami-ogata syndrome 30.7 RTL1 MEG3 DLK1
8 uniparental disomy of chromosome 1 30.5 LAMC2 LAMB3 LAMA3
9 epidermolysis bullosa 30.1 LAMC2 LAMB3 LAMA3
10 junctional epidermolysis bullosa 30.1 LAMC2 LAMB3 LAMA3
11 fanconi anemia, complementation group p 29.5 SLX4 FANCA
12 beckwith-wiedemann syndrome 29.2 SGCE RTL1 MEST MEG3 H19-ICR DLK1
13 maternal uniparental disomy of chromosome 6 12.7
14 maternal uniparental disomy of chromosome 2 12.7
15 maternal uniparental disomy of chromosome 4 12.7
16 maternal uniparental disomy of chromosome 9 12.7
17 maternal uniparental disomy of chromosome 22 12.7
18 maternal uniparental disomy of chromosome 21 12.7
19 maternal uniparental disomy of chromosome 13 12.7
20 maternal uniparental disomy of chromosome x 12.5
21 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.5
22 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.5
23 mulchandani-bhoj-conlin syndrome 12.0
24 chromosomal triplication 10.9
25 diencephalic syndrome 10.7
26 hypotonia 10.7
27 uniparental disomy of chromosome 7 10.7
28 precocious puberty 10.6
29 nondisjunction 10.5
30 silver-russell syndrome 2 10.4
31 autosomal recessive disease 10.4
32 scoliosis 10.4
33 hydrocephalus 10.4
34 uniparental disomy of chromosome 2 10.4
35 down syndrome 10.3
36 placental insufficiency 10.3
37 dystonia 10.3
38 47,xyy 10.3
39 sgce myoclonus-dystonia 10.3
40 mosaic trisomy 14 10.3
41 mosaic trisomy 9 10.3
42 trisomy 2 mosaicism 10.3
43 uniparental disomy of chromosome 6 10.3
44 myoclonus 10.3
45 uniparental disomy of chromosome 15 10.3
46 angelman syndrome 10.2
47 autism 10.2
48 cryptorchidism, unilateral or bilateral 10.2
49 hemophagocytic lymphohistiocytosis, familial, 1 10.2
50 alacrima, achalasia, and mental retardation syndrome 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 CATSPER2 DLK1 FANCA FOXG1 GJC2 LAMC2
2 growth/size/body region MP:0005378 9.8 DLK1 FANCA FOXG1 GNRH1 LAMA3 LAMB3
3 craniofacial MP:0005382 9.63 FANCA FOXG1 LAMA3 LAMB3 LAMC2 SLX4
4 mortality/aging MP:0010768 9.4 DLK1 FANCA FOXG1 GJC2 LAMA3 LAMB3

Drugs & Therapeutics for Maternal Uniparental Disomy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dr. Pao-Lin Kuo (Department of Obstetrics and Gynecology) Completed NCT04155944

Search 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:

40
Testes, Brain, Heart, Placenta, Eye, Cerebellum, Thyroid

Publications for Maternal Uniparental Disomy

Articles related to Maternal Uniparental Disomy:

(show top 50) (show all 476)
# Title Authors PMID Year
1
Case of 15q26-qter deletion associated with a Prader-Willi phenotype. 61
32473228 2020
2
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. 61
32546215 2020
3
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome. 61
32576657 2020
4
Further Characterization of Hb Bronovo [α103(G10)His→Leu; HBA2: c.311A>T] and First Report of the Homozygous State. 61
32552204 2020
5
A case of Usher syndrome type IIA caused by a rare USH2A homozygous frameshift variant with maternal uniparental disomy (UPD) in a Chinese family. 61
32449591 2020
6
Maternal uniparental disomy of chromosome 4 indicated by allele copy number of short tandem repeats. 61
32199309 2020
7
Multiple methods used for type detection of uniparental disomy in paternity testing. 61
31807870 2020
8
Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome. 61
31665337 2020
9
Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome. 61
31599634 2020
10
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant. 61
31985178 2020
11
Prenatal diagnosis of low-level mosaic trisomy 17 with maternal uniparental disomy 17 by amniocentesis in a pregnancy with a favorable outcome. 61
32127154 2020
12
E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1. 61
31953711 2020
13
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood. 61
32054688 2020
14
Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients. 61
31964399 2020
15
Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome. 61
31782896 2020
16
Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia. 61
31793236 2020
17
Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome. 61
31655321 2019
18
Generation of patient-specific induced pluripotent stem cells (KSCBi007-A) derived from a patient with Prader-Willi syndrome retain maternal uniparental disomy (UPD). 61
31756696 2019
19
Early Social Cognitive Ability in Preschoolers with Prader-Willi Syndrome and Autism Spectrum Disorder. 61
31388797 2019
20
Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy. 61
31789783 2019
21
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14. 61
31427715 2019
22
Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome. 61
31270759 2019
23
Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study. 61
31271556 2019
24
Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome. 61
30973645 2019
25
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. 61
31100449 2019
26
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. 61
30242100 2019
27
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. 61
30171908 2019
28
Single-Case Study of Appetite Control in Prader-Willi Syndrome, Over 12-Years by the Indian Extract Caralluma fimbriata. 61
31212875 2019
29
Compulsions in Prader-Willi syndrome: occurrence and severity as a function of genetic subtype. 61
31233206 2019
30
Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected. 61
31079043 2019
31
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. 61
30961659 2019
32
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. 61
30846001 2019
33
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. 61
30476144 2019
34
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis. 61
31620490 2019
35
Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test. 61
29511852 2019
36
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update. 61
31333129 2019
37
Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome. 61
31803239 2019
38
Increased brain age in adults with Prader-Willi syndrome. 61
30658944 2019
39
Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome. 61
31920975 2019
40
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. 61
30587166 2018
41
Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male. 61
30003711 2018
42
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. 61
29659920 2018
43
A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. 61
29655892 2018
44
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. 61
30181735 2018
45
Molecular and clinical studies in 8 patients with Temple syndrome. 61
29468661 2018
46
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients. 61
29878129 2018
47
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome. 61
29546330 2018
48
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. 61
29681103 2018
49
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. 61
29352661 2018
50
Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults. 61
28984907 2018

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 animal organ morphogenesis GO:0009887 9.43 LAMC2 LAMB3 LAMA3
2 epidermis development GO:0008544 9.33 LAMC2 LAMB3 LAMA3
3 endodermal cell differentiation GO:0035987 9.32 LAMB3 LAMA3
4 tissue development GO:0009888 9.13 LAMC2 LAMB3 LAMA3
5 hemidesmosome assembly GO:0031581 8.8 LAMC2 LAMB3 LAMA3

Molecular functions related to Maternal Uniparental Disomy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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