AMH, anti-Mullerian hormone, 268

N. diseases: 242; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.180 GeneticVariation disease BEFREE AMH or AMHR2 mutations in mammals lead to the development of Persistent Müllerian Duct Syndrome (PMDS), a recessive condition in which affected males are fully virilized but retain Müllerian duct-derived tissues, including a uterus and oviducts, and in human and dog, undescended testes. 31301298 2019
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.180 Biomarker disease BEFREE Median AMH standard deviation score was below 0 in both the bilaterally and the unilaterally cryptorchid groups, indicating that testicular function was overall decreased in patients with cryptorchidism. 29922225 2018
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.180 Biomarker disease BEFREE In boys with nonpalpable gonads, AMH determination is useful to distinguish between cryptorchidism and anorchism, as well as differentiating the dysgenetic causes of disorders of sexual development from those due to defective androgen synthesis or action. 28613046 2017
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.180 Biomarker disease BEFREE INSL3 and AMH in patients with previously congenital or acquired undescended testes. 28487028 2017
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.180 GeneticVariation disease BEFREE By contrast, in rodent models knockout of the AMH gene does not cause cryptorchidism. 28599968 2017
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.180 GeneticVariation disease BEFREE The AMHRII -482 A>G, AMHRII IVS 10+77 A>G, AMHRII IVS 5-6 C>T and AMH Ile49Ser genotypes should be determined in a much larger group of boys with cryptorchidism. 27162065 2016
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.180 GeneticVariation disease BEFREE In this report, the expression of the anti-Mullerian hormone receptor type 2 (AMHR2), the specific receptor of AMH, on the AT was investigated in connection with different urological disorders, such as hernia inguinalis, torsion of AT, cysta epididymis, varicocele, hydrocele testis and various forms of undescended testis. 23291863 2013
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.180 Biomarker disease BEFREE Müllerian inhibiting substance (MIS) is a sexually dimorphic gonadal hormone with proven efficacy in the evaluation of boys with cryptorchidism and children with intersex conditions. 12574214 2003
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.180 Biomarker disease HPO