HYPOSPADIAS 1, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: HYSP1
Number of Symptoms 2
OrphanetNr:
OMIM Id: 300633
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000051) Perineal hypospadias 6 / 7739
2
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening ...
Molecular genetics OMIM Sutherland et al. (1996) analyzed penile tissue from several locations in 40 patients who underwent reconstructive surgery for various degrees of hypospadias and found a C-to-T transition in exon 2 of the androgen receptor gene (pro546-to-ser) in only ...
Population genetics OMIM In a case-control study in Alsace, France, Stoll et al. (1990) found 176 cases of hypospadias out of 60,847 male infants, giving a prevalence at birth of 2.89 per 1,000 male newborns. Other malformations were present in about ...