Preferred Label : Hypospadias 1, X-linked;
Symbol : HYSP1;
CISMeF acronym : HYSP1;
Type : Phenotype, molecular basis known;
Description : 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 can be located
glandular, penile, or even more posterior in the scrotum or perineum. Although most
children with this condition undergo surgery in their second year of life, serious
medical, social, and sexual problems may still exist later in life (summary by van
der Zanden et al., 2011). Hypospadias is a feature of several syndromic disorders,
including the androgen insensitivity syndrome (300068) and Opitz syndrome (300000).
- Genetic Heterogeneity of Hypospadias See also HYSP2 (300758), caused by mutation
in the MAMLD1 gene (300120) on chromosome Xq28; HYSP3 (146450), a familial form which
has been mapped to chromosome 7q32.2-q36.1; and HYSP4 (300856), a susceptibility locus
mapped to chromosome Xp11.22 and associated with variation in the;
Inheritance : X-linked recessive;
Molecular basis : Caused by mutation in the androgen receptor gene (AR, 313700.0020);
Prefixed ID : #300633;
Origin ID : 300633;
UMLS CUI : C2678098;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
