MCID: FRM001
MIFTS: 21

Freemartinism

Categories: Endocrine diseases

Aliases & Classifications for Freemartinism

MalaCards integrated aliases for Freemartinism:

Name: Freemartinism 12 42 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:4671
MeSH 42 D005611
UMLS 69 C0016697

Summaries for Freemartinism

MalaCards based summary : Freemartinism is related to arrhythmogenic right ventricular dysplasia 3 and ocular cancer. An important gene associated with Freemartinism is AMH (Anti-Mullerian Hormone). Affiliated tissues include testis and ovary, and related phenotype is reproductive system.

Related Diseases for Freemartinism

Diseases related to Freemartinism via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
id Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia 3 10.4 AMELX AMELY
2 ocular cancer 10.4 AMELX AMELY
3 pineal region yolk sac tumor 10.4 AMELX AMELY
4 retinitis pigmentosa 59 10.4 AMELX AMELY
5 mental retardation, x-linked 104 10.4 AMELX AMELY
6 accommodative spasm 10.4 AMELX AMELY
7 neuroschistosomiasis 10.3 AMELX AMELY
8 bronchus cancer 10.3 AMELX AMELY
9 pediatric infratentorial ependymoblastoma 10.3 AMELX AMELY
10 female breast upper-inner quadrant cancer 10.3 AMELX AMELY
11 ovarian malignant mesothelioma 10.2 AMELX AMELY
12 brucella melitensis brucellosis 10.2 AMH SRY
13 bacterial gastritis 10.1 AMELX AMELY
14 spermatogenic failure, y-linked, 1 10.0 BMP15 SRY
15 hermaphroditism 10.0
16 meacham syndrome 10.0 AMH SRY
17 multiple synostoses syndrome 9.7 AMH BMP15 SRY
18 46 xx gonadal dysgenesis 9.7 AMH BMP15 SRY
19 uterine corpus adenocarcinofibroma 9.7 GNRH1 OXT
20 retroperitoneal sarcoma 9.7 AMH GNRH1
21 porokeratosis 9.6 BMP15 GNRH1
22 ovarian hyperstimulation syndrome 9.6 AMH GNRH1
23 adrenoleukodystrophy 9.5 AMH BMP15 GNRH1
24 pseudopterygium 9.5 AMH BMP15 GNRH1
25 sphingolipidosis 9.4 AMH GNRH1 SRY
26 capillary lymphangioma 9.4 AMH GNRH1 SRY
27 acute gonococcal salpingitis 9.2 BMP15 GNRH1 SRY
28 nephrogenic adenofibroma 9.2 GNRH1 OXT
29 spondylolysis 9.0 AMH BMP15 GNRH1 OXT
30 avoidant personality disorder 8.4 AMH BMP15 GNRH1 OXT SRY
31 thymus mucoepidermoid carcinoma 7.1 AMELX AMELY AMH BMP15 GNRH1 NR1I2

Graphical network of the top 20 diseases related to Freemartinism:



Diseases related to Freemartinism

Symptoms & Phenotypes for Freemartinism

MGI Mouse Phenotypes related to Freemartinism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.02 AMH BMP15 GNRH1 NR1I2 OXT

Drugs & Therapeutics for Freemartinism

Search Clinical Trials , NIH Clinical Center for Freemartinism

Cochrane evidence based reviews: freemartinism

Genetic Tests for Freemartinism

Anatomical Context for Freemartinism

MalaCards organs/tissues related to Freemartinism:

39
Testis, Ovary

Publications for Freemartinism

Articles related to Freemartinism:

(show all 27)
id Title Authors Year
1
Dizygotic monochorionic canine fetuses with blood chimaerism and suspected freemartinism. ( 26304144 )
2015
2
Freemartinism and FecXR allele determination in replacement ewes of the Rasa Aragonesa sheep breed by duplex PCR. ( 19773062 )
2009
3
Diagnosis of bovine freemartinism by fluorescence in situ hybridization on interphase nuclei using a bovine Y chromosome-specific DNA probe. ( 17870153 )
2007
4
Comparison of cytogenetics and polymerase chain reaction based detection of the amelogenin gene polymorphism for the diagnosis of freemartinism in cattle. ( 17037616 )
2006
5
Freemartinism in river buffalo: clinical and cytogenetic observations. ( 15627757 )
2005
6
The diagnosis of freemartinism in cattle using sex-specific DNA sequences. ( 10425251 )
1999
7
XX/XY chimerism and freemartinism in a female llama co-twin to a male. ( 10530330 )
1999
8
Freemartinism among singleton bovine females born from multiple embryo transfer. ( 16727729 )
1995
9
Development of the gubernaculum and processus vaginalis in freemartinism: further evidence in support of a specific fetal testis hormone governing male-specific gubernacular development. ( 7710137 )
1995
10
Diagnosis of freemartinism in cattle: the need for clinical and cytogenic evaluation. ( 8050953 )
1994
11
A fast and highly sensitive method for detecting freemartinism in bovine twins using immunomagnetic beads and Y-specific PCR primers. ( 8239077 )
1993
12
Diagnosis of bovine freemartinism by the polymerase chain reaction method. ( 1362861 )
1992
13
Freemartinism in a captive herd of Rocky Mountain bighorn sheep (Ovis canadensis). ( 1512891 )
1992
14
Freemartinism in red deer (Cervus elaphus L.). ( 2249475 )
1990
15
Diagnosis of freemartinism in sheep. ( 2916299 )
1989
16
Anti-mA1llerian hormone and freemartinism: inhibition of germ cell development and induction of seminiferous cord-like structures in rat fetal ovaries exposed in vitro to purified bovine AMH. ( 3244905 )
1988
17
Sex chromatin as a useful tool for detection of freemartinism in bovine twins. ( 3995247 )
1985
18
Probable freemartinism in a goat. ( 7193198 )
1980
19
A study of bovine freemartinism-morphological variations of the genitalia and sex-chromosome chimerism. ( 873602 )
1977
20
Heifer sterility and freemartinism. ( 560082 )
1977
21
Heifer sterility associated with single-birth freemartinism. ( 867757 )
1977
22
The incidence of freemartinism in sheep. ( 5099639 )
1971
23
Blood cell chimerism and freemartinism in heterosexual bovine quadruplets. ( 5480932 )
1970
24
The leukocyte culture method in the diagnosis of freemartinism. ( 4234791 )
1968
25
XX-XY chimerism in a bovine true hermaphrodite: an insight into the understanding of freemartinism. ( 5702324 )
1968
26
Attempts to induce bovine freemartinism experimentally. ( 5891100 )
1965
27
BOVINE FREEMARTINS AND TRUE HERMAPHRODITISM. ( 14283739 )
1965

Variations for Freemartinism

Expression for Freemartinism

Search GEO for disease gene expression data for Freemartinism.

Pathways for Freemartinism

GO Terms for Freemartinism

Cellular components related to Freemartinism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.02 AMELX AMH BMP15 GNRH1 OXT

Biological processes related to Freemartinism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 female pregnancy GO:0007565 9.48 GNRH1 OXT
2 BMP signaling pathway GO:0030509 9.46 AMH BMP15
3 response to peptide hormone GO:0043434 9.43 GNRH1 OXT
4 response to organic cyclic compound GO:0014070 9.43 AMH GNRH1 OXT
5 response to steroid hormone GO:0048545 9.4 GNRH1 OXT
6 biomineral tissue development GO:0031214 9.37 AMELX AMELY
7 sex differentiation GO:0007548 9.32 AMH SRY
8 male sex determination GO:0030238 9.16 GNRH1 SRY
9 response to prostaglandin E GO:0034695 8.96 GNRH1 OXT
10 tooth mineralization GO:0034505 8.62 AMELX AMELY

Molecular functions related to Freemartinism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.33 AMELX AMH BMP15
2 transforming growth factor beta receptor binding GO:0005160 9.26 AMH BMP15
3 hormone activity GO:0005179 9.13 AMH GNRH1 OXT
4 structural constituent of tooth enamel GO:0030345 8.62 AMELX AMELY

Sources for Freemartinism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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