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男性不育伴单基因突变所致无精子症或少精子症

Male infertility with azoospermia or oligozoospermia due to single gene mutation

ORPHA:399805疾病

定义

男性不育伴单基因突变所致无精症或少精症是一种罕见的遗传性男性不育，其特征是精液中没有可测量数量的精子(无精症)，或者射精液中的精子数量低于1500万/mL(少精症)，这是由于已知导致无精子或少精子症的单个基因的突变所导致的。在这种情况下，男性不育是一种罕见的遗传性男性不育，其特征是精液中没有可测量的精子数量(无精子症)，或者射精液中精子数量低于1500万/mL(少精子症)，这是由于已知导致无精子或少精子症的单一基因突变所致。精子形态可能正常。

基本事实

遗传方式
常染色体显性、常染色体隐性、X 连锁隐性
发病年龄
青少年期、成年期

相关基因 38

基因名称关联类型
STAG3STAG3 cohesin complex componentDisease-causing germline mutation(s) in
TAF4BTATA-box binding protein associated factor 4bDisease-causing germline mutation(s) in
ZMYND15zinc finger MYND-type containing 15Disease-causing germline mutation(s) in
SYCE1synaptonemal complex central element protein 1Disease-causing germline mutation(s) in
TEX11testis expressed 11Disease-causing germline mutation(s) (loss of function) in
SYCP3synaptonemal complex protein 3Candidate gene tested in
KLHL10kelch like family member 10Disease-causing germline mutation(s) in
DNAH10dynein axonemal heavy chain 10Disease-causing germline mutation(s) in
MSH5mutS homolog 5Disease-causing germline mutation(s) in
MEIOBmeiosis specific with OB-foldDisease-causing germline mutation(s) in
TDRD9tudor domain containing 9Disease-causing germline mutation(s) in
SPAG17sperm associated antigen 17Disease-causing germline mutation(s) in
TEX15testis expressed 15, meiosis and synapsis associatedDisease-causing germline mutation(s) in
TEX14testis expressed 14, intercellular bridge forming factorDisease-causing germline mutation(s) in
C14ORF39chromosome 14 open reading frame 39Disease-causing germline mutation(s) in
PNLDC1PARN like ribonuclease domain containing exonuclease 1Disease-causing germline mutation(s) in
PDHA2pyruvate dehydrogenase E1 subunit alpha 2Disease-causing germline mutation(s) in
ZSWIM7zinc finger SWIM-type containing 7Disease-causing germline mutation(s) in
DNHD1dynein heavy chain domain 1Disease-causing germline mutation(s) in
CCDC34coiled-coil domain containing 34Disease-causing germline mutation(s) in
CT55cancer/testis antigen 55Disease-causing germline mutation(s) in
RPL10Lribosomal protein L10 likeDisease-causing germline mutation(s) (loss of function) in
CATIPciliogenesis associated TTC17 interacting proteinDisease-causing germline mutation(s) in
RNF212ring finger protein 212Disease-causing germline mutation(s) in
TERB1telomere repeat binding bouquet formation protein 1Disease-causing germline mutation(s) in
TERB2telomere repeat binding bouquet formation protein 2Disease-causing germline mutation(s) in
MOV10L1Mov10 like RNA helicase 1Disease-causing germline mutation(s) in
FBXO43F-box protein 43Disease-causing germline mutation(s) in
SHOC1shortage in chiasmata 1Disease-causing germline mutation(s) in
GCNAgerm cell nuclear acidic peptidaseDisease-causing germline mutation(s) in
SPINK2serine peptidase inhibitor Kazal type 2Disease-causing germline mutation(s) in
CFTRCF transmembrane conductance regulatorMajor susceptibility factor in
FANCMFA complementation group MDisease-causing germline mutation(s) (loss of function) in
NR5A1nuclear receptor subfamily 5 group A member 1Disease-causing germline mutation(s) in
XRCC2X-ray repair cross complementing 2Disease-causing germline mutation(s) in
SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1Major susceptibility factor in
NANOS1nanos C2HC-type zinc finger 1Disease-causing germline mutation(s) in
RBBP7RB binding protein 7, chromatin remodeling factorDisease-causing germline mutation(s) in

临床表型 7

极常见 99–80%6

  • 生精异常 HP:0008669
  • 无精症 HP:0000027
  • 睾丸体积过小 HP:0008734
  • 促性腺激素水平升高 HP:0000837
  • 非梗阻性无精症 HP:0011961
  • 表型异常 HP:0000118

常见 79–30%1

  • 梗阻性无精症 HP:0011962

外部标识与链接

OrphanetOMIM:108420OMIM:258150OMIM:270960MONDO:0018393GARD:8530ICD-10 N46ICD-11 GB04.0ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）