MCID: TWN007
MIFTS: 14

Twinning, Dizygotic

Categories: Genetic diseases

Aliases & Classifications for Twinning, Dizygotic

MalaCards integrated aliases for Twinning, Dizygotic:

Name: Twinning, Dizygotic 57 55 40
Ovarian Response to Fsh Stimulation 57 13 6

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive vs. multifactorial


Classifications:



External Ids:

OMIM 57 276400
MedGen 42 C0220761

Summaries for Twinning, Dizygotic

MalaCards based summary : Twinning, Dizygotic, also known as ovarian response to fsh stimulation, is related to neonatal alloimmune neutropenia and premature ovarian failure 1. An important gene associated with Twinning, Dizygotic is FSHR (Follicle Stimulating Hormone Receptor), and among its related pathways/superpathways is Ovarian Infertility Genes. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Related phenotype is neoplasm.

Description from OMIM: 276400

Related Diseases for Twinning, Dizygotic

Diseases related to Twinning, Dizygotic via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neonatal alloimmune neutropenia 9.8
2 premature ovarian failure 1 9.8 FSHR INHA
3 infertility 9.8 FSHR INHA
4 ovarian cancer 9.7 FSHR INHA

Symptoms & Phenotypes for Twinning, Dizygotic

Symptoms via clinical synopsis from OMIM:

57
Misc:
dizygotic twinning
female line transmission


Clinical features from OMIM:

276400

MGI Mouse Phenotypes related to Twinning, Dizygotic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 FSHR INHA

Drugs & Therapeutics for Twinning, Dizygotic

Drugs for Twinning, Dizygotic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Vaccines Phase 4
3
Metformin Approved Phase 1,Not Applicable 657-24-9 14219 4091
4 Hypoglycemic Agents Phase 1,Not Applicable
5 interferons

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 T-cell And General Immune Response to Seasonal Influenza Vaccine (SLVP018) - Year 1, 2009 Completed NCT01987349 Phase 4
2 T-cell And General Immune Response to Seasonal Influenza Vaccine (SLVP018) Year 2, 2010 Completed NCT03022396 Phase 4
3 T-cell And General Immune Response to Seasonal Influenza Vaccine (SLVP018) Year 5, 2013 Completed NCT03023176 Phase 4
4 T-cell And General Immune Response to Seasonal Influenza Vaccine (SLVP018) Year 4, 2012 Completed NCT03022435 Phase 4
5 T-cell And General Immune Response to Seasonal Influenza Vaccine (SLVP018) Year 3, 2011 Completed NCT03022422 Phase 4
6 Genetic and Environmental Factors in the Response to Influenza Vaccination Recruiting NCT03088904 Phase 4
7 Study of Metformin Pharmacogenetics in Twins Completed NCT01869621 Phase 1 Metformin
8 Impact of Genetics on Metformin Pharmacokinetics Completed NCT00187798 Not Applicable Metformin HCl
9 Heritability of Sleep Homeostasis in Twins Completed NCT02827461
10 Depression, Genes, Cytokines, Chronic Fatigue, Physical Illnesses and Quality of Life Completed NCT02943330
11 Genetic Liability in the Brain Morphology of Attention Deficit Hyperactivity Disorder Completed NCT00161161
12 Twins Born in Guangzhou Recruiting NCT03331133
13 Food Effects on the Gut Microbiota Enrolling by invitation NCT03078283 Not Applicable
14 Characterization of the Facial and Gut Microbiome in Rosacea Not yet recruiting NCT03228927

Search NIH Clinical Center for Twinning, Dizygotic

Genetic Tests for Twinning, Dizygotic

Anatomical Context for Twinning, Dizygotic

Publications for Twinning, Dizygotic

Variations for Twinning, Dizygotic

ClinVar genetic disease variations for Twinning, Dizygotic:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FSHR NM_000145.3(FSHR): c.919G> A (p.Ala307Thr) single nucleotide variant Benign rs6165 GRCh37 Chromosome 2, 49191041: 49191041
2 FSHR NM_000145.3(FSHR): c.919G> A (p.Ala307Thr) single nucleotide variant Benign rs6165 GRCh38 Chromosome 2, 48963902: 48963902
3 FSHR NM_000145.3(FSHR): c.2039G> A (p.Ser680Asn) single nucleotide variant Benign rs6166 GRCh37 Chromosome 2, 49189921: 49189921
4 FSHR NM_000145.3(FSHR): c.2039G> A (p.Ser680Asn) single nucleotide variant Benign rs6166 GRCh38 Chromosome 2, 48962782: 48962782

Expression for Twinning, Dizygotic

Search GEO for disease gene expression data for Twinning, Dizygotic.

Pathways for Twinning, Dizygotic

Pathways related to Twinning, Dizygotic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.13 FSHR INHA

GO Terms for Twinning, Dizygotic

Biological processes related to Twinning, Dizygotic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 8.96 FSHR INHA
2 regulation of MAPK cascade GO:0043408 8.62 FSHR INHA

Sources for Twinning, Dizygotic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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