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:

(showing 94, show less)
# 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
Copy number variants in short children born small for gestational age. 61
25300501 2014
29
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11. 61
24649380 2014
30
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. 61
23237735 2013
31
Myoclonus. 61
24092290 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
51
Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. 61
19017756 2009
52
Myoclonus-dystonia due to maternal uniparental disomy. 61
18852357 2008
53
No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients. 61
18585117 2008
54
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. 61
18474587 2008
55
The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration. 61
18230663 2008
56
Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR. 61
18202157 2008
57
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome. 61
18049079 2008
58
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. 61
18070127 2008
59
No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation. 61
18341093 2007
60
Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth. 61
17935233 2007
61
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. 61
17033973 2006
62
Mosaic maternal uniparental isodisomy for chromosome 7q21-qter. 61
16922723 2006
63
Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth. 61
16835920 2006
64
Silver-Russell syndrome and its genetic origins. 61
16615300 2006
65
Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face. 61
16317300 2006
66
Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. 61
16007591 2005
67
An interstitial deletion of chromosome 7 at band q21: a case report and review. 61
15732063 2005
68
Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping. 61
15490033 2004
69
A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7. 61
12754712 2003
70
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. 61
12634861 2003
71
Genetic analysis of short stature. 61
14530602 2003
72
Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome. 61
12387515 2002
73
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. 61
12142464 2002
74
Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. 61
12095916 2002
75
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. 61
11875139 2002
76
[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome]. 61
11494748 2001
77
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. 61
11112662 2001
78
Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7. 61
11131354 2000
79
Diagnosis of maternal uniparental disomy of chromosome 7 with a methylation specific PCR assay. 61
10978366 2000
80
Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. 61
10856193 2000
81
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression. 61
10955473 2000
82
Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32. 61
10860668 2000
83
Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature. 61
10818216 2000
84
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. 61
10631135 2000
85
The search for the gene for Silver-Russell syndrome. 61
10626544 1999
86
Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases. 61
10564876 1999
87
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. 61
10544228 1999
88
An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. 61
10874633 1999
89
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. 61
10227403 1999
90
Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely. 61
10434128 1999
91
Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues. 61
9781061 1998
92
Genetics of Silver-Russell syndrome. 61
9730670 1998
93
Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. 61
9272165 1997
94
Maternal uniparental disomy 7 in Silver-Russell syndrome. 61
9032641 1997

Variations for Uniparental Disomy of Chromosome 7

Expression for Uniparental Disomy of Chromosome 7

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GO Terms for Uniparental Disomy of Chromosome 7

Sources for Uniparental Disomy of Chromosome 7

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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
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72 UMLS via Orphanet
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