KEGG DISEASE: Azoospermia

KEGG

DISEASE: Azoospermia

Entry

H00890                      Disease

Name

Azoospermia

Subgroup

Y-linked nonobstructive azoospermia (SPGFY2)
Azoospermia due to perturbations of meiosis (SPGF4)
Obstructive azoospermia with nephrolithiasis (OAZON)

Supergrp

Spermatogenic failure [DS:H01282]

Description

Azoospermia is a disorder in which there is a complete absence of sperm in the semen. It is classified as obstructive azoospermia caused by problems with sperm transport and nonobstructive azoospermia caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due to meiotic arrest.

Category

Reproductive system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
  Diseases of the male genital system
   GB04  Male infertility
    H00890  Azoospermia

Gene

(SPGFY2) USP9Y [HSA:8287] [KO:K11840]
(SPGF4) SYCP3 [HSA:50511] [KO:K19528]
(OAZON) CLDN2 [HSA:9075] [KO:K06087]

Other DBs

ICD-11:

MeSH:

D053713 C536875

OMIM:

415000 270960 301060

Reference

Authors

Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A

Title

Role of genetics in azoospermia.

Journal

Urology 77:598-601 (2011)
DOI:10.1016/j.urology.2010.10.001

Reference

Authors

Tyler-Smith C, Krausz C

Title

The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene.

Journal

N Engl J Med 360:925-7 (2009)
DOI:10.1056/NEJMe0900301

Reference

PMID:19246359 (USP9Y)

Authors

Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P

Title

Spermatogenesis in a man with complete deletion of USP9Y.

Journal

N Engl J Med 360:881-5 (2009)
DOI:10.1056/NEJMoa0806218

Reference

PMID:14643120 (SYCP3)

Authors

Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ

Title

Azoospermia in patients heterozygous for a mutation in SYCP3.

Journal

Lancet 362:1714-9 (2003)
DOI:10.1016/S0140-6736(03)14845-3

Reference

PMID:19110213 (SYCP3)

Authors

Bolor H, Mori T, Nishiyama S, Ito Y, Hosoba E, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Kato T, Tong M, Nishizawa H, Pryor-Koishi K, Kitaoka E, Sawada T, Nishiyama Y, Udagawa Y, Kurahashi H

Title

Mutations of the SYCP3 gene in women with recurrent pregnancy loss.

Journal

Am J Hum Genet 84:14-20 (2009)
DOI:10.1016/j.ajhg.2008.12.002

Reference

PMID:31320686 (CLDN2)

Authors

Askari M, Karamzadeh R, Ansari-Pour N, Karimi-Jafari MH, Almadani N, Sadighi Gilani MA, Gourabi H, Vosough Taghi Dizaj A, Mohseni Meybodi A, Sadeghi M, Bashamboo A, McElreavey K, Totonchi M

Title

Identification of a missense variant in CLDN2 in obstructive azoospermia.

Journal

J Hum Genet 64:1023-1032 (2019)
DOI:10.1038/s10038-019-0642-0

LinkDB

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