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: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.800 CausalMutation disease CLINVAR
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.800 Biomarker disease CTD_human
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.180 Biomarker disease HPO
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.140 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.100 Biomarker phenotype HPO
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		0.100 Biomarker disease HPO
CUI: C0268285
Disease: Adrenal hyperplasia, congenital, type 5
Adrenal hyperplasia, congenital, type 5 		0.010 Biomarker disease BEFREE The basic characteristics, mechanism of high plasma aldosterone concentration, steroid modification of Müllerian inhibiting substance and rationality of castration in a case of 17 alpha-hydroxylase deficiency are discussed. 1769794 1991
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.800 Biomarker disease BEFREE We have characterized the point mutation responsible for an AMH-negative PMDS in three siblings: a guanine to thymine transversion at position 2096 in the fifth exon changes a GAA triplet, coding for glutamic acid, to a TAA stop codon. 2023927 1991
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.800 Biomarker disease BEFREE Isolation of the human MIS receptor gene will facilitate the identification of human PMDS patients with normal levels of MIS that have mutations in the MIS receptor gene. 7828438 1994
CUI: C0271629
Disease: Mullerian inhibiting factor deficiency
Mullerian inhibiting factor deficiency 		0.010 Biomarker disease BEFREE The in vivo outcomes of ectopic MIS exposure or MIS deficiency illustrate the balance required to coordinately differentiate and cause regression of the respective male and female genital ducts. 7828438 1994
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.800 AlteredExpression disease BEFREE PMDS has been attributed to deficient AMH activity or to abnormalities in the AMH receptor. 7907140 1994
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.800 Biomarker disease BEFREE A rare form of familial male pseudohermaphroditism, the persistent Müllerian duct syndrome (PMDS) is characterized by persistence of uterus and Fallopian tubes in 46,XY phenotypic males and is ascribed to defects in the synthesis or action of anti-Müllerian hormone (AMH). 8162013 1994
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.800 GeneticVariation disease UNIPROT Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families. 8162013 1994
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		0.140 Biomarker disease BEFREE A rare form of familial male pseudohermaphroditism, the persistent Müllerian duct syndrome (PMDS) is characterized by persistence of uterus and Fallopian tubes in 46,XY phenotypic males and is ascribed to defects in the synthesis or action of anti-Müllerian hormone (AMH). 8162013 1994
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		0.060 Biomarker group BEFREE Thirty-one patients with intersex and gonadal anomalies from 17 institutions were therefore evaluated between 1989 and 1992 with an MIS enzyme-linked immunosorbent assay (ELISA). 8468660 1993
CUI: C0018206
Disease: granulosa cell tumor
granulosa cell tumor 		0.050 Biomarker disease BEFREE Finally, two young girls with ovarian granulosa cell tumors had elevated MIS values that fell from 18 to 2 ng/mL and from 6.5 to 1 ng/mL during postoperative follow-up.(ABSTRACT TRUNCATED AT 250 WORDS) 8468660 1993
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		0.050 AlteredExpression disease BEFREE Serum MIS levels correlated with the presence of testicular tissue in two patients with suspected anorchia, five patients with male pseudohermaphroditism, and eight other intersex patients with undescended testes, dysgenetic gonads, or ovotestes. 8468660 1993
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		0.060 AlteredExpression disease BEFREE In conclusion, secretion of AMH is a constitutive feature of the immature Sertoli cell and its expression is altered only by mutations of the AMH gene, but not by gonadal dysgenesis. 8623936 1996
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		0.060 Biomarker group BEFREE Anti-Müllerian hormone (AMH) immunoreactivity was studied on paraffin sections obtained from archival testicular biopsies of 29 children with intersex disorders and of 22 controls. 8623936 1996
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.030 AlteredExpression disease BEFREE In conclusion, secretion of AMH is a constitutive feature of the immature Sertoli cell and its expression is altered only by mutations of the AMH gene, but not by gonadal dysgenesis. 8623936 1996
CUI: C0266360
Disease: Streak gonad
Streak gonad 		0.030 Biomarker disease BEFREE In patients with asymmetric gonadal differentiation, the streak gonad was AMH-negative. 8623936 1996
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		0.010 Biomarker disease BEFREE AMH immunoreactivity was conserved in premeiotic seminiferous tubules of dysgenetic testes, and also in sex-cord cells of a gonadoblastoma. 8623936 1996
CUI: C0302885
Disease: Testicular dysgenesis
Testicular dysgenesis 		0.010 AlteredExpression disease BEFREE Testicular dysgenesis does not affect expression of anti-müllerian hormone by Sertoli cells in premeiotic seminiferous tubules. 8623936 1996
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		0.800 GeneticVariation disease UNIPROT A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. 8872466 1996