Male infertility with azoospermia or oligozoospermia due to single gene mutation

Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000027 Azoospermia Very frequent (99-80%)
HP:0000118 Phenotypic abnormality Very frequent (99-80%)
HP:0000837 Increased circulating gonadotropin level Very frequent (99-80%)
HP:0008669 Abnormal spermatogenesis Very frequent (99-80%)
HP:0008734 Decreased testicular size Very frequent (99-80%)
HP:0011961 Non-obstructive azoospermia Very frequent (99-80%)
HP:0011962 Obstructive azoospermia Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 15

Gene Symbol Gene Name Entrez Gene ID
TDRD9 tudor domain containing 9 122402
FANCM FA complementation group M 57697
TEX15 testis expressed 15, meiosis and synapsis associated 56154
CFTR cystic fibrosis transmembrane conductance regulator 1080
NR5A1 nuclear receptor subfamily 5 group A member 1 2516
NANOS1 nanos C2HC-type zinc finger 1 340719
TAF4B TATA-box binding protein associated factor 4b 6875
ZMYND15 zinc finger MYND-type containing 15 84225
TEX11 testis expressed 11 56159
SYCP3 synaptonemal complex protein 3 50511
SOHLH1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 402381
XRCC2 X-ray repair cross complementing 2 7516
SYCE1 synaptonemal complex central element protein 1 93426
MEIOB meiosis specific with OB-fold 254528
KLHL10 kelch like family member 10 317719