MCID: UNP012
MIFTS: 14

Uniparental Disomy of Chromosome 7

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Uniparental Disomy of Chromosome 7

MalaCards integrated aliases for Uniparental Disomy of Chromosome 7:

Name: Uniparental Disomy of Chromosome 7 58
Upd(7) 58

Classifications:



External Ids:

Orphanet 58 ORPHA263029

Summaries for Uniparental Disomy of Chromosome 7

MalaCards based summary : Uniparental Disomy of Chromosome 7, also known as upd(7), is related to paternal uniparental disomy of chromosome 7 and silver-russell syndrome 1. An important gene associated with Uniparental Disomy of Chromosome 7 is MEST (Mesoderm Specific Transcript). Affiliated tissues include bone and cerebellum.

Related Diseases for Uniparental Disomy of Chromosome 7

Graphical network of the top 20 diseases related to Uniparental Disomy of Chromosome 7:



Diseases related to Uniparental Disomy of Chromosome 7

Symptoms & Phenotypes for Uniparental Disomy of Chromosome 7

Drugs & Therapeutics for Uniparental Disomy of Chromosome 7

Search Clinical Trials , NIH Clinical Center for Uniparental Disomy of Chromosome 7

Genetic Tests for Uniparental Disomy of Chromosome 7

Anatomical Context for Uniparental Disomy of Chromosome 7

MalaCards organs/tissues related to Uniparental Disomy of Chromosome 7:

40
Bone, Cerebellum

Publications for Uniparental Disomy of Chromosome 7

Articles related to Uniparental Disomy of Chromosome 7:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Chronic Hypercapnic Respiratory Failure in an Adult Patient with Silver-Russell Syndrome: A Case Report. 61
33518558 2021
2
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome. 61
33482836 2021
3
Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome. 61
33187293 2020
4
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood. 61
32054688 2020
5
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. 61
32546215 2020
6
Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome. 61
31665337 2020
7
Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome. 61
31655321 2019
8
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. 61
31100449 2019
9
Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome. 61
31803239 2019
10
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
11
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. 61
29250858 2018
12
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. 61
28624953 2017
13
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome. 61
28675902 2017
14
Mosaic UPD(7q)mat in a patient with silver Russell syndrome. 61
29075327 2017
15
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features. 61
27172843 2017
16
Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quantitative Computed Tomography, and Quantitative Ultrasonography. 61
28936199 2017
17
Silver-Russell syndrome in Hong Kong. 61
27468965 2016
18
New clinical and molecular insights into Silver-Russell syndrome. 61
27386972 2016
19
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. 61
26508573 2016
20
FOXP2-Related Speech and Language Disorders 61
27336128 2016
21
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? 61
27007691 2016
22
New developments in Silver-Russell syndrome and implications for clinical practice. 61
27066913 2016
23
Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report. 61
27924152 2016
24
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. 61
25809938 2015
25
Genome-wide methylation analysis in Silver-Russell syndrome patients. 61
25563730 2015
26
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum. 61
25015868 2014
27
[Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012]. 61
29421254 2014
28
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11. 61
24649380 2014
29
Copy number variants in short children born small for gestational age. 61
25300501 2014
30
Myoclonus. 61
24092290 2013
31
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. 61
23237735 2013
32
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome. 61
23401077 2013
33
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. 61
24051620 2013
34
First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients. 61
23429302 2012
35
Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13). 61
21954990 2012
36
Epigenetic and genetic diagnosis of Silver-Russell syndrome. 61
22702363 2012
37
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome. 61
21204802 2012
38
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7. 61
21752678 2012
39
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. 61
22104167 2011
40
Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome. 61
21612428 2011
41
Silver-Russell syndrome. 61
21396582 2011
42
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. 61
19752157 2010
43
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. 61
20684011 2010
44
Russell-Silver syndrome. 61
20803658 2010
45
Silver-Russell syndrome: genetic basis and molecular genetic testing. 61
20573229 2010
46
Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. 61
19762329 2010
47
Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. 61
19876907 2009
48
LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants. 61
19694203 2009
49
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. 61
19364767 2009
50
Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures. 61
19407494 2009

Variations for Uniparental Disomy of Chromosome 7

Expression for Uniparental Disomy of Chromosome 7

Search GEO for disease gene expression data for Uniparental Disomy of Chromosome 7.

Pathways for Uniparental Disomy of Chromosome 7

GO Terms for Uniparental Disomy of Chromosome 7

Sources for Uniparental Disomy of Chromosome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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