Term ID: 12870
Name: Vanishing testis
Synonym: Testicular regression syndrome; Vanishing testis
Definition: A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.
Comments:
Reference: HP:0012870
Genes and Diseases: Child Nodes: Sister Nodes: ..Abnormality of the Leydig cells (HP:0010789) ..Abnormality of the testis size (HP:0045058) ..Anorchism (HP:0030869) ..Cryptorchidism (HP:0000028) ..Dysplastic testes (HP:0008733) ..Hydrocele testis (HP:0000034) ..Intratesticular abscess (HP:0025038) ..Monorchism (HP:0030868) ..Orchitis (HP:0100796) ..Primary testicular failure (HP:0008720) ..Retractile testis (HP:0012646) ..Supernumerary testes (HP:0010470) ..Testicular atrophy (HP:0000029) ..Testicular dysgenesis (HP:0008715) ..Testicular fibrosis (HP:0012860) ..Testicular lipomatosis (HP:0025476) ..Testicular microlithiasis (HP:0012215) ..Testicular neoplasm (HP:0010788) ..Testicular torsion (HP:0100813) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0012870 HP:0012870 Vanishing testis 0 DHX37 CL E G H 57647 17210 OMIM:273250 46, XY sex reversal 11 . 2 HP:0012870 HP:0012870 Vanishing testis 0 DHX37 CL E G H 57647 17210 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 2 HP:0012870 HP:0012870 Vanishing testis 0 DMRT3 CL E G H 58524 13909 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 1 HP:0012870 HP:0012870 Vanishing testis 0 GATA4 CL E G H 2626 4173 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 87 HP:0012870 HP:0012870 Vanishing testis 0 MAP3K1 CL E G H 4214 6848 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 13 HP:0012870 HP:0012870 Vanishing testis 0 NR0B1 CL E G H 190 7960 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 48 HP:0012870 HP:0012870 Vanishing testis 0 NR5A1 CL E G H 2516 7983 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 38 HP:0012870 HP:0012870 Vanishing testis 0 SOX9 CL E G H 6662 11204 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 109 HP:0012870 HP:0012870 Vanishing testis 0 SRY CL E G H 6736 11311 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 23 HP:0012870 HP:0012870 Vanishing testis 0 VAMP7 CL E G H 6845 11486 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 2 HP:0012870 HP:0012870 Vanishing testis 0 WT1 CL E G H 7490 12796 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 177 HP:0012870 HP:0012870 Vanishing testis 0 WWOX CL E G H 51741 12799 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 149 HP:0012870 HP:0012870 Vanishing testis 0 ZFPM2 CL E G H 23414 16700 ORPHA:251510 46,XY partial gonadal dysgenesis HP:0040281 - Very frequent 31
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
