KEGG DISEASE: Hypospadias

KEGG

DISEASE: Hypospadias

Entry

H02175                      Disease

Name

Hypospadias

Description

Hypospadias (HYSP) is defined as a defect in the development of the ventral aspect of the penis along with an ectopic opening of the urethral meatus. It is thought to be due to a combination of genetic and environmental factors. Mutations in the androgen receptor gene (AR) have been found in patients with severe forms of hypospadias. It was also reported that MAMLD1 is a causative gene. MAMLD1 is an X-linked transcriptional co-activator, expressed in foetal Sertoli and Leydig cells around the critical period for sexual development.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the male genital system
    LB53  Hypospadias
     H02175  Hypospadias

Gene

(HYSP1) AR [HSA:367] [KO:K08557]
(HYSP2) MAMLD1 [HSA:10046] [KO:K19512]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Kalfa N, Philibert P, Baskin LS, Sultan C

Title

Hypospadias: interactions between environment and genetics.

Journal

Mol Cell Endocrinol 335:89-95 (2011)
DOI:10.1016/j.mce.2011.01.006

Reference

Authors

Fukami M, Wada Y, Miyabayashi K, Nishino I, Hasegawa T, Nordenskjold A, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T

Title

CXorf6 is a causative gene for hypospadias.

Journal

Nat Genet 38:1369-71 (2006)
DOI:10.1038/ng1900

Reference

Authors

Bouty A, Ayers KL, Pask A, Heloury Y, Sinclair AH

Title

The Genetic and Environmental Factors Underlying Hypospadias.

Journal

Sex Dev 9:239-259 (2015)
DOI:10.1159/000441988

LinkDB

» Japanese version

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