ORPHA:171709
Male infertility due to globozoospermia
Synonyms: Male infertility due to round-headed spermatozoa · Round-headed sperm syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Male infertility due to globozoospermia | Male infertility due to round-headed spermatozoa · Round-headed sperm syndrome |
| fr | Infertilité masculine avec globozoospermie | Infertilité masculine avec spermatozoïdes à tête ronde |
| de | Männliche Infertilität durch Globozoospermie | Globozoospermie · Männliche Infertilität durch Rundkopf-Spermien |
| es | Infertilidad masculina por globozoospermia | Infertilidad masculina por espermatozoides de cabeza redonda · Síndrome de esperma de cabeza redonda |
| it | Sterilità maschile da globozoospermia | Sterilità maschile da spermatozoi a testa tonda |
| nl | Mannelijke onvruchtbaarheid als gevolg van globozoöspermie | Mannelijke onvruchtbaarheid door rondkoppige spermatozoa · Rondkoppig sperma-syndroom |
| pt | Globozoospermia | |
| pl | Niepłodność męska z powodu globozoospermii | Niepłodność męska z powodu spermatozoa z okrągłą główką |
| cs | Mužská neplodnost způsobená globozoospermií | Mužská neplodnost způsobená kulatou hlavičkou spermií |
| uk | Чоловіче безпліддя через глобозооспермію | Чоловіче безпліддя через круглоголові сперматозоїди · Синдром круглоголових сперматозоїдів |
| zh | 圆头精子症所致男性不育症 | 圆头精子所致男性不育症 |
| tr | Globozoospermiye bağlı erkek infertilitesi | Yuvarlak başlı sperm sendromu · Yuvarlak başlı spermatozoaya bağlı erkek infertilitesi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 102530 | BTNT | validated | |
| OMIM | 613958 | BTNT | validated | |
| OMIM | 618420 | BTNT | validated | |
| ICD-10 | N46 | NTBT | attributed | validated |
| MONDO | 0015746 | E | validated | |
| UMLS | C5679591 | E | validated | |
| GARD | 12502 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:399808Male infertility with teratozoospermia due to single gene mutation
rare genetic diseases; rare infertility disorders
No children.
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Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GOPC | Candidate gene tested in | Not yet assessed | HGNC:17643 | ENSG00000047932 | 606845 | 6q22.1 | golgi associated PDZ and coiled-coil motif containing | 22049801[PMID] |
| SEPTIN4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9165 | ENSG00000108387 | 603696 | 17q22 | septin 4 | 36135717[PMID] |
| CATSPERT | Disease-causing germline mutation(s) in | Assessed | HGNC:14438 | ENSG00000155754 | 619776 | 2q33.1 | catsper channel auxiliary subunit tau | 31985809[PMID] |
| DPY19L2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19414 | ENSG00000177990 | 613893 | 12q14.2 | dpy-19 like 2 | 21397063[PMID]_22571172[PMID] |
| GGN | Disease-causing germline mutation(s) in | Assessed | HGNC:18869 | ENSG00000179168 | 609966 | 19q13.2 | gametogenetin | 31985809[PMID] |
| PICK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9394 | ENSG00000100151 | 605926 | 22q13.1 | protein interacting with PRKCA 1 | 20562896[PMID]_22571172[PMID] |
| PPP2R3C | Disease-causing germline mutation(s) in | Assessed | HGNC:17485 | ENSG00000092020 | 615902 | 14q13.2 | protein phosphatase 2 regulatory subunit B''gamma | 30893644[PMID] |
| SPATA16 | Disease-causing germline mutation(s) in | Assessed | HGNC:29935 | ENSG00000144962 | 609856 | 3q26.31 | spermatogenesis associated 16 | 17847006[PMID]_22571172[PMID] |
| ZPBP | Disease-causing germline mutation(s) in | Assessed | HGNC:15662 | ENSG00000042813 | 608498 | 7p12.2 | zona pellucida binding protein | 31985809[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171709
- This record as JSON: /data/d/171709.json