ORPHA:399805
Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare, genetic male infertility due to a 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Male infertility with azoospermia or oligozoospermia due to single gene mutation | |
| fr | Infertilité masculine monogénique avec azoospermie ou oligozoospermie | |
| de | Männliche Infertilität mit Azoospermie oder Oligozoospermie durch Mutation eines einzelnen Gens | |
| es | Infertilidad masculina con azoospermia o oligozoospermia por una única mutación genética | |
| it | Sterilità maschile con azoospermia od oligospermia da mutazione di un singolo gene | |
| nl | Mannelijke onvruchtbaarheid met azoöspermie of oligospermie als gevolg van een enkele genmutatie | |
| pt | Infertilidade masculina com azoospermia ou oligozoospermia por mutação num único gene | |
| pl | Niepłodność męska z azoospermią lub oligospermią z powodu mutacji pojedyńczego genu | |
| cs | Mužská neplodnost s azoospermií nebo oligospermií způsobená mutací v jednom genu | Monogenní mužská neplodnost s azoospermií nebo oligospermií |
| uk | Чоловіче безпліддя з азооспермією або олігозооспермією внаслідок мутації одного гена | |
| zh | 男性不育伴单基因突变所致无精子症或少精子症 | |
| tr | Tek gen mutasyonuna bağlı azospermi veya oligozoospermi ile seyreden erkek infertilitesi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108420 | BTNT | validated | |
| OMIM | 258150 | BTNT | validated | |
| OMIM | 270960 | BTNT | validated | |
| OMIM | 301077 | BTNT | validated | |
| OMIM | 301106 | BTNT | validated | |
| OMIM | 301137 | BTNT | validated | |
| OMIM | 305700 | BTNT | validated | |
| OMIM | 309120 | BTNT | validated | |
| OMIM | 613957 | BTNT | validated | |
| OMIM | 615081 | BTNT | validated | |
| OMIM | 615413 | BTNT | validated | |
| OMIM | 615841 | BTNT | validated | |
| OMIM | 615842 | BTNT | validated | |
| OMIM | 616950 | BTNT | validated | |
| OMIM | 617706 | BTNT | validated | |
| OMIM | 617707 | BTNT | validated | |
| OMIM | 617960 | BTNT | validated | |
| OMIM | 618086 | BTNT | validated | |
| OMIM | 618091 | BTNT | validated | |
| OMIM | 618110 | BTNT | validated | |
| OMIM | 618115 | BTNT | validated | |
| OMIM | 619108 | BTNT | validated | |
| OMIM | 619202 | BTNT | validated | |
| OMIM | 619379 | BTNT | validated | |
| OMIM | 619380 | BTNT | validated | |
| OMIM | 619515 | NTBT | validated | |
| OMIM | 619528 | BTNT | validated | |
| OMIM | 619585 | NTBT | validated | |
| OMIM | 619645 | BTNT | validated | |
| OMIM | 619646 | BTNT | validated | |
| OMIM | 619672 | BTNT | validated | |
| OMIM | 619673 | BTNT | validated | |
| OMIM | 619689 | BTNT | validated | |
| OMIM | 619696 | BTNT | validated | |
| OMIM | 619712 | NTBT | validated | |
| OMIM | 619799 | BTNT | validated | |
| OMIM | 619803 | BTNT | validated | |
| OMIM | 619805 | BTNT | validated | |
| OMIM | 619826 | BTNT | validated | |
| OMIM | 619828 | BTNT | validated | |
| OMIM | 619831 | BTNT | validated | |
| OMIM | 619867 | BTNT | validated | |
| OMIM | 619878 | BTNT | validated | |
| OMIM | 619937 | BTNT | validated | |
| OMIM | 619949 | BTNT | validated | |
| OMIM | 620084 | BTNT | validated | |
| OMIM | 620103 | BTNT | validated | |
| OMIM | 620170 | BTNT | validated | |
| OMIM | 620196 | BTNT | validated | |
| OMIM | 620222 | BTNT | validated | |
| ICD-10 | N46 | NTBT | attributed | validated |
| ICD-11 | GB04.0 | NTBT | attributed | validated |
| MONDO | 0018393 | E | validated | |
| UMLS | C5681165 | E | validated | |
| GARD | 8530 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:399786Male infertility with spermatogenesis disorder due to single gene mutation
rare genetic diseases; rare infertility disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:217034Male infertility with normal virilization due to meiosis defect moved to · inactive
4
Genes
38 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SYCP3 | Candidate gene tested in | Not yet assessed | HGNC:18130 | ENSG00000139351 | 604759 | 12q23.2 | synaptonemal complex protein 3 | 14643120[PMID]_16213863[PMID] |
| FANCM | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23168 | ENSG00000187790 | 609644 | 14q21.2 | FA complementation group M | 30075111[PMID] |
| RPL10L | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17976 | ENSG00000165496 | 619655 | 14q21.2 | ribosomal protein L10 like | 32111475[PMID] |
| TEX11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11733 | ENSG00000120498 | 300311 | Xq13.1 | testis expressed 11 | 25970010[PMID] |
| C14ORF39 | Disease-causing germline mutation(s) in | Assessed | HGNC:19849 | ENSG00000179008 | 617307 | 14q23.1 | chromosome 14 open reading frame 39 | 33508233[PMID] |
| CATIP | Disease-causing germline mutation(s) in | Assessed | HGNC:25062 | ENSG00000158428 | 619387 | 2q35 | ciliogenesis associated TTC17 interacting protein | 32503832[PMID] |
| CCDC34 | Disease-causing germline mutation(s) in | Assessed | HGNC:25079 | ENSG00000109881 | 612324 | 11p14.1 | coiled-coil domain containing 34 | 34348960[PMID] |
| CT55 | Disease-causing germline mutation(s) in | Assessed | HGNC:26047 | ENSG00000169551 | 301105 | Xq26.3 | cancer/testis antigen 55 | 36481789[PMID] |
| DNAH10 | Disease-causing germline mutation(s) in | Assessed | HGNC:2941 | ENSG00000197653 | 605884 | 12q24.31 | dynein axonemal heavy chain 10 | 34237282[PMID] |
| DNHD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26532 | ENSG00000179532 | 617277 | 11p15.4 | dynein heavy chain domain 1 | 34932939[PMID] |
| FBXO43 | Disease-causing germline mutation(s) in | Assessed | HGNC:28521 | ENSG00000156509 | 609110 | 8q22.2 | F-box protein 43 | 30878252[PMID] |
| GCNA | Disease-causing germline mutation(s) in | Assessed | HGNC:15805 | ENSG00000147174 | 300369 | Xq13.1 | germ cell nuclear acidic peptidase | 34413498[PMID] |
| KLHL10 | Disease-causing germline mutation(s) in | Assessed | HGNC:18829 | ENSG00000161594 | 608778 | 17q21.2 | kelch like family member 10 | 17047026[PMID] |
| MEIOB | Disease-causing germline mutation(s) in | Assessed | HGNC:28569 | ENSG00000162039 | 617670 | 16p13.3 | meiosis specific with OB-fold | 28206990[PMID] |
| MOV10L1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7201 | ENSG00000073146 | 605794 | 22q13.33 | Mov10 like RNA helicase 1 | 35476666[PMID] |
| MSH5 | Disease-causing germline mutation(s) in | Assessed | HGNC:7328 | ENSG00000204410 | 603382 | 6p21.33 | mutS homolog 5 | 34755185[PMID] |
| NANOS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:23044 | ENSG00000188613 | 608226 | 10q26.11 | nanos C2HC-type zinc finger 1 | 23315541[PMID] |
| NR5A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7983 | ENSG00000136931 | 184757 | 9q33.3 | nuclear receptor subfamily 5 group A member 1 | 20887963[PMID] |
| PDHA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:8807 | ENSG00000163114 | 179061 | 4q22.3 | pyruvate dehydrogenase E1 subunit alpha 2 | 29581481[PMID] |
| PNLDC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21185 | ENSG00000146453 | 619529 | 6q25.3 | PARN like ribonuclease domain containing exonuclease 1 | 34347949[PMID] |
| RBBP7 | Disease-causing germline mutation(s) in | Assessed | HGNC:9890 | Xp22.2 | RB binding protein 7, chromatin remodeling factor | 35809576[PMID]_37843278[PMID] | ||
| RNF212 | Disease-causing germline mutation(s) in | Assessed | HGNC:27729 | ENSG00000178222 | 612041 | 4p16.3 | ring finger protein 212 | 31125047[PMID] |
| SHOC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26535 | ENSG00000165181 | 618038 | 9q31.3 | shortage in chiasmata 1 | 32741963[PMID] |
| SPAG17 | Disease-causing germline mutation(s) in | Assessed | HGNC:26620 | ENSG00000155761 | 616554 | 1p12 | sperm associated antigen 17 | 28548327[PMID] |
| SPINK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11245 | ENSG00000128040 | 605753 | 4q12 | serine peptidase inhibitor Kazal type 2 | 28554943[PMID] |
| STAG3 | Disease-causing germline mutation(s) in | Assessed | HGNC:11356 | ENSG00000066923 | 608489 | 7q22.1 | STAG3 cohesin complex component | 31125047[PMID]_31682730[PMID] |
| SYCE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:28852 | ENSG00000171772 | 611486 | 10q26.3 | synaptonemal complex central element protein 1 | 25899990[PMID] |
| TAF4B | Disease-causing germline mutation(s) in | Assessed | HGNC:11538 | ENSG00000141384 | 601689 | 18q11.2 | TATA-box binding protein associated factor 4b | 24431330[PMID] |
| TDRD9 | Disease-causing germline mutation(s) in | Assessed | HGNC:20122 | ENSG00000156414 | 617963 | 14q32.33 | tudor domain containing 9 | 28536242[PMID] |
| TERB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26675 | ENSG00000249961 | 617332 | 16q22.1 | telomere repeat binding bouquet formation protein 1 | 32741963[PMID] |
| TERB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:28520 | ENSG00000167014 | 617131 | 15q21.1 | telomere repeat binding bouquet formation protein 2 | 33211200[PMID] |
| TEX14 | Disease-causing germline mutation(s) in | Assessed | HGNC:11737 | ENSG00000121101 | 605792 | 17q22 | testis expressed 14, intercellular bridge forming factor | 29790874[PMID] |
| TEX15 | Disease-causing germline mutation(s) in | Assessed | HGNC:11738 | ENSG00000133863 | 605795 | 8p12 | testis expressed 15, meiosis and synapsis associated | 29048736[PMID] |
| XRCC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:12829 | ENSG00000196584 | 600375 | 7q36.1 | X-ray repair cross complementing 2 | 30042186[PMID] |
| ZMYND15 | Disease-causing germline mutation(s) in | Assessed | HGNC:20997 | ENSG00000141497 | 614312 | 17p13.2 | zinc finger MYND-type containing 15 | 24431330[PMID] |
| ZSWIM7 | Disease-causing germline mutation(s) in | Assessed | HGNC:26993 | ENSG00000214941 | 614535 | 17p12 | zinc finger SWIM-type containing 7 | 32719396[PMID]_33713115[PMID] |
| CFTR | Major susceptibility factor in | Assessed | HGNC:1884 | ENSG00000001626 | 602421 | 7q31.2 | CF transmembrane conductance regulator | 22709980[PMID] |
| SOHLH1 | Major susceptibility factor in | Assessed | HGNC:27845 | ENSG00000165643 | 610224 | 9q34.3 | spermatogenesis and oogenesis specific basic helix-loop-helix 1 | 20506135[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
7 annotations · validated 2016-01-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008669 | Abnormal spermatogenesis | |
| HP:0000027 | Azoospermia | |
| HP:0008734 | Decreased testicular size | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0011961 | Non-obstructive azoospermia | |
| HP:0000118 | Phenotypic abnormality | |
| Frequent (79-30%) | ||
| HP:0011962 | Obstructive azoospermia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 19535795[PMID]_22335740[PMID]_23349759[PMID]_14573733[PMID]_12788881[PMID]_18596921[PMID]_18834967[PMID]_17034399[PMID]_9371856[PMID]_17761590[PMID]_26194704[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/399805
- This record as JSON: /data/d/399805.json