Phenotypes associated with the disease Isolated splenogonadal fusion (ORPHA:457083):
- Abnormal scrotum morphology (HP:0000045): Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:457083)
- Unilateral cryptorchidism (HP:0012741): Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457083)
- Testicular mass (HP:0032404): An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:457083)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457083)
- Hydrocele testis (HP:0000034): Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457083)
- Polysplenia (HP:0001748): Polysplenia is a congenital disease manifested by multiple small accessory spleens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457083)
- Bilateral cryptorchidism (HP:0008689): Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457083)
- Abnormal epididymis morphology (HP:0009714): An abnormality of the epididymis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457083)
- Ectopia of the spleen (HP:0010452): An abnormal (non-anatomic) location of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:457083)
- Abnormal penis morphology (HP:0000036): Abnormality of the male external sex organ. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:457083)
Not associated with this disease:
- Increased circulating gonadotropin level (HP:0000837): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: TAS. (ORPHA:457083)
- Elevated circulating alpha-fetoprotein concentration (HP:0006254): The concentration of alpha-fetoprotein in the blood circulation is above the upper limit of normal. Evidence: TAS. (ORPHA:457083)
- Abnormal circulating lactate dehydrogenase concentration (HP:0045040): A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. Evidence: TAS. (ORPHA:457083)