CRYPTORCHIDISM, UNILATERAL OR BILATERAL

General Information (adopted from Orphanet):

Synonyms, Signs: UNDESCENDED TESTIS
Number of Symptoms 3
OrphanetNr:
OMIM Id: 219050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000104) Renal agenesis 68 / 7739
2
(HPO:0000028) Cryptorchidism 347 / 7739
3
(HPO:0012741) Unilateral cryptorchidism 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. ...
Clinical Description OMIM Bishop et al. (1979) pointed out that renal anomalies such as renal agenesis are often associated with the familial form of cryptorchidism.

Czeizel et al. (1981) found that mothers of index cases had shorter menses and ...

Molecular genetics OMIM Tomboc et al. (2000) used SSCP analysis to screen the coding regions of the INSL3 gene in genomic DNA samples obtained from 145 formerly cryptorchid patients and 36 adult male controls. Two mutations and several polymorphisms were identified. ...