MCID: UNP012
MIFTS: 19

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 59
Upd(7) 59

Classifications:



External Ids:

Orphanet 59 ORPHA263029

Summaries for Uniparental Disomy of Chromosome 7

MalaCards based summary : Uniparental Disomy of Chromosome 7, also known as upd(7), is related to silver-russell syndrome due to maternal uniparental disomy of chromosome 7 and paternal uniparental disomy of chromosome 7. An important gene associated with Uniparental Disomy of Chromosome 7 is MEST (Mesoderm Specific Transcript). The drugs Anastrozole and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and heart.

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

Drugs for Uniparental Disomy of Chromosome 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anastrozole Approved, Investigational 120511-73-1 2187
2 Hormones
3 Estrogens
4 Steroid Synthesis Inhibitors
5 Antineoplastic Agents, Hormonal
6 Hormone Antagonists
7 Estrogen Receptor Antagonists
8 Estrogen Antagonists
9 Aromatase Inhibitors
10 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Tolerance of Treatment With an Aromatase Inhibitor (Anastrozole) to Limit the Progression of Bone Maturation Related to Pathological Adrenarche in Children With Silver-Russell or Prader-Willi Syndrome Unknown status NCT01520467 Anastrozole;Placebo

Search 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:

41
Bone, Testes, Heart, Cerebellum

Publications for Uniparental Disomy of Chromosome 7

Articles related to Uniparental Disomy of Chromosome 7:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. 38
31100449 2019
2
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
3
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. 38
29250858 2018
4
Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. 38
28624953 2017
5
The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome. 38
28675902 2017
6
Mosaic UPD(7q)mat in a patient with silver Russell syndrome. 38
29075327 2017
7
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features. 38
27172843 2017
8
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. 38
28936199 2017
9
Silver-Russell syndrome in Hong Kong. 38
27468965 2016
10
New clinical and molecular insights into Silver-Russell syndrome. 38
27386972 2016
11
FOXP2-Related Speech and Language Disorders 38
27336128 2016
12
Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. 38
26508573 2016
13
Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? 38
27007691 2016
14
New developments in Silver-Russell syndrome and implications for clinical practice. 38
27066913 2016
15
Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report. 38
27924152 2016
16
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. 38
25809938 2015
17
Genome-wide methylation analysis in Silver-Russell syndrome patients. 38
25563730 2015
18
Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum. 38
25015868 2014
19
[Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012]. 38
29421254 2014
20
Copy number variants in short children born small for gestational age. 38
25300501 2014
21
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11. 38
24649380 2014
22
Myoclonus. 38
24092290 2013
23
Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. 38
23237735 2013
24
Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome. 38
23401077 2013
25
Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. 38
24051620 2013
26
First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients. 38
23429302 2012
27
Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13). 38
21954990 2012
28
Epigenetic and genetic diagnosis of Silver-Russell syndrome. 38
22702363 2012
29
Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome. 38
21204802 2012
30
Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7. 38
21752678 2012
31
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. 38
22104167 2011
32
Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome. 38
21612428 2011
33
Silver-Russell syndrome. 38
21396582 2011
34
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. 38
19752157 2010
35
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. 38
20684011 2010
36
Russell-Silver syndrome. 38
20803658 2010
37
Silver-Russell syndrome: genetic basis and molecular genetic testing. 38
20573229 2010
38
Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. 38
19762329 2010
39
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. 38
19876907 2009
40
LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants. 38
19694203 2009
41
Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. 38
19364767 2009
42
Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures. 38
19407494 2009
43
Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. 38
19017756 2009
44
Myoclonus-dystonia due to maternal uniparental disomy. 38
18852357 2008
45
No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients. 38
18585117 2008
46
Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. 38
18474587 2008
47
The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration. 38
18230663 2008
48
Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR. 38
18202157 2008
49
Maternal heterodisomy/isodisomy and paternal supernumerary ring of chromosome 7 in a child with Silver-Russell syndrome. 38
18049079 2008
50
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. 38
18070127 2008

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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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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