Uniparental Disomy of Chromosome 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: UNP012 MIFTS: 18	Uniparental Disomy of Chromosome 7 Categories: Fetal diseases, Rare diseases
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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:

MalaCards categories:
Global: Rare diseases Fetal diseases

See all MalaCards categories (disease lists)

External Ids:

Orphanet ⁵⁸ ORPHA263029

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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 due to maternal uniparental disomy of chromosome 7. An important gene associated with Uniparental Disomy of Chromosome 7 is MEST (Mesoderm Specific Transcript). The drugs Anastrozole and Antineoplastic Agents, Hormonal have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and brain.

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Related Diseases for Uniparental Disomy of Chromosome 7

Diseases in the Uniparental Disomy of Chromosome 1 family:

Chromosome 1, Uniparental Disomy 1q12 Q21	Chromosome 10, Uniparental Disomy
Chromosome 16, Uniparental Disomy	Chromosome 21, Uniparental Disomy
Chromosome 5, Uniparental Disomy	Uniparental Disomy of Chromosome 11
Uniparental Disomy of Chromosome 2	Uniparental Disomy of Chromosome 6
Uniparental Disomy of Chromosome 15	Uniparental Disomy of Chromosome 20
Uniparental Disomy of Chromosome 13	Uniparental Disomy of Chromosome 14
Uniparental Disomy of Chromosome 7

Diseases related to Uniparental Disomy of Chromosome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)

#	Related Disease	Score
1	paternal uniparental disomy of chromosome 7	12.6
2	silver-russell syndrome due to maternal uniparental disomy of chromosome 7	12.6
3	silver-russell syndrome 1	11.9
4	maternal uniparental disomy	10.6
5	diencephalic syndrome	10.5
6	chromosomal triplication	10.3
7	dystonia	10.3
8	sgce myoclonus-dystonia	10.3
9	myoclonus	10.3
10	47,xyy	10.2
11	ring chromosome 7	10.2
12	ring chromosome	10.2
13	polydactyly	10.1
14	movement disease	10.1
15	nondisjunction	10.1
16	hemihyperplasia, isolated	10.1

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

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Symptoms & Phenotypes for Uniparental Disomy of Chromosome 7

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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 8)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Anastrozole

Approved, Investigational

120511-73-1

2187

Synonyms:

.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile

1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)

120511-73-1

2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)

2,2'-(5-(1H-1,2,4-Triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)

2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)

2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)

2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile

a,a,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile

AC1L1D49

AC-4234

alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile

alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile

anastrazole

Anastrazole

Anastrole

Anastrozol

anastrozole

Anastrozole

Anastrozole (JAN/USAN/INN)

Anastrozole [USAN:INN:BAN]

Arimidex

Arimidex (TN)

Arimidex (Zeneca)

Arimidex, Anastrozole

Asiolex

Astra brand of anastrozole

Astra brand OF anastrozole

AstraZeneca brand of anastrozole

AstraZeneca brand OF anastrozole

C08159

C090450

C17H19N5

CHEBI:2704

CHEMBL1399

CID2187

CPD000466301

D00960

DB01217

HMS2052M11

HMS2089N10

HSDB 7462

I06-0021

ICI D1033

ICI-D 1033

ICI-D1033

LS-29563

MLS000759396

MLS001424217

MolPort-005-933-078

NCGC00164619-01

NSC719344

S1188_Selleck

SAM001246525

SBB066057

SMR000466301

UNII-2Z07MYW1AZ

ZD 1033

ZD1033

ZD-1033

Zeneca brand of anastrozole

Zeneca brand OF anastrozole

Zeneca ZD 1033

ZINC00000941

α,α,alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile

α,α,α',α'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile

Antineoplastic Agents, Hormonal

Hormone Antagonists

Hormones

Estrogen Antagonists

Estrogen Receptor Antagonists

Estrogens

Aromatase Inhibitors

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

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Genetic Tests for Uniparental Disomy of Chromosome 7

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Anatomical Context for Uniparental Disomy of Chromosome 7

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

⁴⁰

Bone, Testes, Brain, Cerebellum, Heart

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Publications for Uniparental Disomy of Chromosome 7

Articles related to Uniparental Disomy of Chromosome 7:

(show top 50) (show all 91)

#	Title	Authors	PMID	Year
1	Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. ⁶¹	Inoue T...Kagami M	32546215	2020
2	Cognitive Profiles and Brain Volume Are Affected in Patients with Silver-Russell Syndrome. ⁶¹	Patti G...Di Iorgi N	31665337	2020
3	Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood. ⁶¹	Lokulo-Sodipe O...Temple IK	32054688	2020
4	Sleep disordered breathing in Silver-Russell syndrome patients: a new outcome. ⁶¹	Giabicani E...Netchine I	31655321	2019
5	Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations. ⁶¹	Eggermann T...Elbracht M	31100449	2019
6	Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver-Russell Syndrome. ⁶¹	Xia CL...Wei J	31803239	2019
7	A case report and review of the literature indicate that HMGA2 should be added as a disease gene for Silver-Russell syndrome. ⁶¹	Leszinski GS...Wagner M	29655892	2018
8	Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. ⁶¹	Tumer Z...Eggermann T	29250858	2018
9	Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. ⁶¹	Wu D...Su C	28624953	2017
10	Mosaic UPD(7q)mat in a patient with silver Russell syndrome. ⁶¹	Su J...Shen Y	29075327	2017
11	The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome. ⁶¹	Binder G...Schweizer R	28675902	2017
12	NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features. ⁶¹	Sachwitz J...Eggermann T	27172843	2017
13	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	Pelosi P...Stagi S	28936199	2017
14	Silver-Russell syndrome in Hong Kong. ⁶¹	Luk HM...Lo IF	27468965	2016
15	New clinical and molecular insights into Silver-Russell syndrome. ⁶¹	Giabicani E...Brioude F	27386972	2016
16	Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. ⁶¹	Eggermann T...Lapunzina P	26508573	2016
17	FOXP2-Related Speech and Language Disorders ⁶¹	Morgan A...Hildebrand M	27336128	2016
18	Long-Term Results of GH Treatment in Silver-Russell Syndrome (SRS): Do They Benefit the Same as Non-SRS Short-SGA? ⁶¹	Smeets CC...Hokken-Koelega AC	27007691	2016
19	New developments in Silver-Russell syndrome and implications for clinical practice. ⁶¹	Ishida M	27066913	2016
20	Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report. ⁶¹	Marques B...Correia H	27924152	2016
21	A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype. ⁶¹	De Crescenzo A...Riccio A	25809938	2015
22	Genome-wide methylation analysis in Silver-Russell syndrome patients. ⁶¹	Prickett AR...Oakey RJ	25563730	2015
23	Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellum. ⁶¹	Abdelhedi F...Dupont JM	25015868	2014
24	[Clinical profile of a cohort of Silver-Russell syndrome patients followed at the Hospital Infantil de México Federico Gómez from 1998 to 2012]. ⁶¹	Galaz-Montoya CI...Moran-Barroso VF	29421254	2014
25	Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11. ⁶¹	Neocleous V...Phylactou LA	24649380	2014
26	Copy number variants in short children born small for gestational age. ⁶¹	Wit JM...Ruivenkamp CA	25300501	2014
27	Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. ⁶¹	Sheridan MB...Batista DA	23237735	2013
28	Myoclonus. ⁶¹	Espay AJ...Chen R	24092290	2013
29	Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome. ⁶¹	Ghanim M...Vincent-Delorme C	23401077	2013
30	Adult height and epigenotype in children with Silver-Russell syndrome treated with GH. ⁶¹	Binder G...Schweizer R	24051620	2013
31	First genetic screening for maternal uniparental disomy of chromosome 7 in Turkish silver-russell syndrome patients. ⁶¹	Karaca E...Ozkinay F	23429302	2012
32	Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13). ⁶¹	Behnecke A...Moog U	21954990	2012
33	Epigenetic and genetic diagnosis of Silver-Russell syndrome. ⁶¹	Eggermann T...Elbracht M	22702363	2012
34	Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell- Silver syndrome. ⁶¹	Petit F...Delobel B	21204802	2012
35	Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7. ⁶¹	Vardi O...Lev D	21752678	2012
36	Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. ⁶¹	Okada T...Aggerbeck LP	22104167	2011
37	Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome. ⁶¹	Spengler S...Eggermann T	21612428	2011
38	Silver-Russell syndrome. ⁶¹	Binder G...Kannenberg K	21396582	2011
39	Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. ⁶¹	Bruce S...Kere J	19752157	2010
40	Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7. ⁶¹	Stark Z...Savarirayan R	20684011	2010
41	Russell-Silver syndrome. ⁶¹	Eggermann T	20803658	2010
42	Silver-Russell syndrome: genetic basis and molecular genetic testing. ⁶¹	Eggermann T...Spengler S	20573229	2010
43	Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. ⁶¹	Spengler S...Eggermann T	19762329	2010
44	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	Horike S...Weksberg R	19876907	2009
45	LOT1 (ZAC1/PLAGL1) as member of an imprinted gene network does not harbor Silver-Russell specific variants. ⁶¹	Jager S...Eggermann T	19694203	2009
46	Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. ⁶¹	Eggermann T...Schonherr N	19364767	2009
47	Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures. ⁶¹	Eggermann T	19407494	2009
48	Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. ⁶¹	Bruce S...Lipsanen-Nyman M	19017756	2009
49	Myoclonus-dystonia due to maternal uniparental disomy. ⁶¹	Guettard E...Roze E	18852357	2008
50	No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients. ⁶¹	Schoherr N...Eggermann T	18585117	2008

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Genes for Uniparental Disomy of Chromosome 7

Genes related to Uniparental Disomy of Chromosome 7 (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MEST	Mesoderm Specific Transcript	Protein Coding	6.9	GeneCards inferred via : Publications (show sections)

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Variations for Uniparental Disomy of Chromosome 7

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Expression for Uniparental Disomy of Chromosome 7

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

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Pathways for Uniparental Disomy of Chromosome 7

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GO Terms for Uniparental Disomy of Chromosome 7

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