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 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, heart and brain, 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 144)
# Related Disease Score Top Affiliating Genes
1 temple syndrome 34.0 RTL1 MEG3 DLK1
2 maternal uniparental disomy of chromosome 1 34.0 LAMC2 LAMB3 LAMA3
3 maternal uniparental disomy of chromosome 16 33.9 SLX4 FANCA
4 silver-russell syndrome 33.0 MEST MEG3 H19-ICR DLK1
5 uniparental disomy of chromosome 14 31.6 FOXG1 DLK1
6 uniparental disomy of chromosome 1 30.6 LAMC2 LAMB3 LAMA3
7 epidermolysis bullosa 30.1 LAMC2 LAMB3 LAMA3
8 junctional epidermolysis bullosa 30.1 LAMC2 LAMB3 LAMA3
9 fanconi anemia, complementation group p 29.7 SLX4 FANCA
10 beckwith-wiedemann syndrome 29.2 SGCE RTL1 MEST MEG3 H19-ICR DLK1
11 maternal uniparental disomy of chromosome 6 12.6
12 maternal uniparental disomy of chromosome 2 12.6
13 maternal uniparental disomy of chromosome 9 12.6
14 maternal uniparental disomy of chromosome 4 12.6
15 maternal uniparental disomy of chromosome 22 12.6
16 maternal uniparental disomy of chromosome 21 12.6
17 maternal uniparental disomy of chromosome 13 12.6
18 maternal uniparental disomy of chromosome x 12.5
19 silver-russell syndrome due to maternal uniparental disomy of chromosome 11 12.5
20 silver-russell syndrome due to maternal uniparental disomy of chromosome 7 12.5
21 prader-willi syndrome 12.4
22 mulchandani-bhoj-conlin syndrome 11.9
23 chromosomal triplication 10.8
24 diencephalic syndrome 10.7
25 hypotonia 10.7
26 uniparental disomy of chromosome 7 10.7
27 precocious puberty 10.6
28 nondisjunction 10.5
29 scoliosis 10.4
30 autosomal recessive disease 10.4
31 hydrocephalus 10.4
32 uniparental disomy of chromosome 2 10.4
33 down syndrome 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 6 10.3
42 myoclonus 10.3
43 uniparental disomy of chromosome 15 10.3
44 kagami-ogata syndrome 10.3 RTL1 MEG3 DLK1
45 angelman syndrome 10.2
46 autism 10.2
47 cryptorchidism, unilateral or bilateral 10.2
48 hemophagocytic lymphohistiocytosis, familial, 1 10.2
49 alacrima, achalasia, and mental retardation syndrome 10.2
50 hemophagocytic lymphohistiocytosis 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 10.02 CATSPER2 DLK1 FANCA FOXG1 GJC2 LAMC2
2 growth/size/body region MP:0005378 10 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

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, Heart, Brain, Placenta, Eye, Cerebellum, Thyroid

Publications for Maternal Uniparental Disomy

Articles related to Maternal Uniparental Disomy:

(show top 50) (show all 467)
# Title Authors PMID Year
1
Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients. 61
31964399 2020
2
Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome. 61
31782896 2020
3
E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1. 61
31953711 2020
4
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant. 61
31985178 2020
5
Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia. 61
31793236 2020
6
Multiple methods used for type detection of uniparental disomy in paternity testing. 61
31807870 2019
7
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
8
Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome. 61
31655321 2019
9
Early Social Cognitive Ability in Preschoolers with Prader-Willi Syndrome and Autism Spectrum Disorder. 61
31388797 2019
10
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14. 61
31427715 2019
11
Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy. 61
31789783 2019
12
Relationship between phenotype and genotype of 102 Chinese newborns with Prader-Willi syndrome. 61
31270759 2019
13
Autistic traits and cognitive abilities associated with two molecular causes of Silver-Russell syndrome. 61
31599634 2019
14
Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study. 61
31271556 2019
15
Prevalence of growth hormone (GH) deficiency in previously GH-treated young adults with Prader-Willi syndrome. 61
30973645 2019
16
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. 61
31100449 2019
17
Single-Case Study of Appetite Control in Prader-Willi Syndrome, Over 12-Years by the Indian Extract Caralluma fimbriata. 61
31212875 2019
18
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
19
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
20
Maternal uniparental disomy of the chromosome 14: need for growth hormone provocative tests also when a deficiency is not suspected. 61
31079043 2019
21
Compulsions in Prader-Willi syndrome: occurrence and severity as a function of genetic subtype. 61
31233206 2019
22
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. 61
30961659 2019
23
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. 61
30476144 2019
24
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
25
Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis. 61
31620490 2019
26
Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test. 61
29511852 2019
27
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update. 61
31333129 2019
28
Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome. 61
31803239 2019
29
Increased brain age in adults with Prader-Willi syndrome. 61
30658944 2019
30
Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome. 61
31920975 2019
31
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report. 61
30587166 2018
32
Incomplete methylation of a germ cell tumor (Seminoma) in a Prader-Willi male. 61
30003711 2018
33
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome. 61
29659920 2018
34
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
35
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. 61
30181735 2018
36
Molecular and clinical studies in 8 patients with Temple syndrome. 61
29468661 2018
37
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients. 61
29878129 2018
38
Clinical Manifestations and Metabolic Outcomes of Seven Adults With Silver-Russell Syndrome. 61
29546330 2018
39
Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome. 61
29681103 2018
40
Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. 61
29352661 2018
41
Prader-Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults. 61
28984907 2018
42
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. 61
29250858 2018
43
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism. 61
29311684 2018
44
First Case Report of Prader-Willi-Like Syndrome in Colombia. 61
29619043 2018
45
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome. 61
30836360 2018
46
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features. 61
30555519 2018
47
Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report. 61
30598700 2018
48
Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader-Willi syndrome. 61
29433608 2018
49
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients. 61
28640239 2017
50
Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children. 61
29146936 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 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
Content
Loading form....