MCID: FRM001
MIFTS: 23

Freemartinism

Categories: Endocrine diseases

Aliases & Classifications for Freemartinism

MalaCards integrated aliases for Freemartinism:

Name: Freemartinism 12 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:4671
MeSH 44 D005611
UMLS 73 C0016697

Summaries for Freemartinism

MalaCards based summary : Freemartinism is related to enamel caries and amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2. 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 32)
# Related Disease Score Top Affiliating Genes
1 enamel caries 10.4 AMELX AMELY
2 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 10.4 AMELX AMELY
3 epulis 10.4 AMELX AMELY
4 amelogenesis imperfecta, type ie 10.4 AMELX AMELY
5 retinitis pigmentosa 59 10.4 AMELX AMELY
6 dental pulp necrosis 10.4 AMELX AMELY
7 peptic ulcer perforation 10.3 AMELX AMELY
8 skeletal tuberculosis 10.3 AMELX AMELY
9 teeth hard tissue disease 10.3 AMELX AMELY
10 mixed gonadal dysgenesis 10.1 AMH SRY
11 hermaphroditism 10.1
12 frasier syndrome 10.0 AMH SRY
13 46,xx sex reversal 1 10.0 BMP15 SRY
14 mouth disease 9.9 AMELX AMELY
15 pseudohermaphroditism 9.9 AMH SRY
16 varicocele 9.8 AMH GNRH1
17 ovarian hyperstimulation syndrome 9.7 AMH GNRH1
18 premenstrual tension 9.7 GNRH1 OXT
19 amelogenesis imperfecta 9.7 AMELX AMELY
20 persistent mullerian duct syndrome 9.6 AMH BMP15 SRY
21 gonadal dysgenesis 9.6 AMH BMP15 SRY
22 endogenous depression 9.6 GNRH1 OXT
23 anovulation 9.6 BMP15 GNRH1
24 premature ovarian failure 1 9.4 AMH BMP15 GNRH1
25 ovarian disease 9.4 AMH BMP15 GNRH1
26 myoma 9.3 GNRH1 OXT
27 sex differentiation disease 9.3 AMH GNRH1 SRY
28 gonadal disease 9.3 AMH GNRH1 SRY
29 cryptorchidism, unilateral or bilateral 9.3 AMH GNRH1 SRY
30 amenorrhea 9.1 BMP15 GNRH1 SRY
31 female reproductive system disease 8.8 AMH BMP15 GNRH1 OXT
32 reproductive system disease 8.0 AMH BMP15 GNRH1 OXT SRY

Graphical network of the top 20 diseases related to Freemartinism:



Diseases related to Freemartinism

Symptoms & Phenotypes for Freemartinism

MGI Mouse Phenotypes related to Freemartinism:

46
# 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:

41
Testis, Ovary

Publications for Freemartinism

Articles related to Freemartinism:

(show all 27)
# 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
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
9
Freemartinism among singleton bovine females born from multiple embryo transfer. ( 16727729 )
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
Heifer sterility and freemartinism. ( 560082 )
1977
20
A study of bovine freemartinism-morphological variations of the genitalia and sex-chromosome chimerism. ( 873602 )
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:

# 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.78 AMELX AMELY GNRH1 NR1I2
2 BMP signaling pathway GO:0030509 9.51 AMH BMP15
3 response to organic cyclic compound GO:0014070 9.5 AMH GNRH1 OXT
4 female pregnancy GO:0007565 9.49 GNRH1 OXT
5 response to peptide hormone GO:0043434 9.46 GNRH1 OXT
6 response to steroid hormone GO:0048545 9.43 GNRH1 OXT
7 biomineral tissue development GO:0031214 9.4 AMELX AMELY
8 sex differentiation GO:0007548 9.37 AMH SRY
9 male sex determination GO:0030238 9.26 GNRH1 SRY
10 response to prostaglandin E GO:0034695 9.16 GNRH1 OXT
11 regulation of signaling receptor activity GO:0010469 9.02 AMELX AMH BMP15 GNRH1 OXT
12 tooth mineralization GO:0034505 8.96 AMELX AMELY

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

# 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
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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