ORPHA:137893
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Synonyms: Macrocephalic sperm head syndrome · Male infertility due to macrozoospermia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Male infertility due to large-headed multiflagellar polyploid spermatozoa | Macrocephalic sperm head syndrome · Male infertility due to macrozoospermia |
| fr | Infertilité masculine associée à des spermatozoïdes à tête large, polyploïdes, multiflagellés | |
| de | Männliche Infertilität durch großköpfige multiflagelläre poloploide Spermatozoen | Makrozephalische Spermien-Syndrom · Männliche Infertilität durch Makrozoospermie |
| es | Infertilidad masculina por espermatozoides poliploides multiflagelados con cabeza grande | Infertilidad masculina por macrozoospermia · Síndrome de cabeza espermática macrocefálica |
| it | Sterilità maschile associata a spermatozoi poliploidi multiflagellati a testa grande | |
| nl | Mannelijke onvruchtbaarheid geassocieerd met grootkoppige multiflagellaire polyploïde spermatozoa | Macrocefalische spermakop-syndroom · Mannelijke onvruchtbaarheid door macrozoöspermie |
| pt | Infertilidade masculina devida a espermatozóides poliplóides multiflagelados de cabeça grande | Infertilidade masculina por macrozoospermia · Síndrome de cabeça espermática macrocefálica |
| pl | Male infertility associated with large-headed multiflagellar polyploid spermatozoa | = en |
| cs | Mužská neplodnost způsobená polyploidními spermiemi s velkou hlavičkou a více bičíky | = en |
| uk | Чоловіче безпліддя, спричинене поліплоїдними багатоджгутиковими сперматозоїдами з великими головками | Синдром макроцефальної головки сперматозоїда · Чоловіче безпліддя через макрозооспермію |
| zh | 大头部多鞭毛息肉状异常精子所致男性不育症 | 巨精子头综合征 |
| tr | Büyük başlı multiflagellar poliploid spermatozoaya bağlı erkek infertilitesi | Makrozoospermiye bağlı erkek infertilitesi · Makrosefalik sperm başı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243060 | BTNT | validated | |
| OMIM | 301059 | BTNT | validated | |
| OMIM | 619515 | NTBT | validated | |
| OMIM | 619585 | NTBT | validated | |
| OMIM | 619712 | NTBT | validated | |
| OMIM | 620353 | BTNT | validated | |
| OMIM | 620409 | BTNT | validated | |
| OMIM | 620744 | BTNT | validated | |
| ICD-10 | N46 | NTBT | attributed | validated |
| ICD-11 | MF7Y | NTBT | attributed | validated |
| MONDO | 0009461 | E | validated | |
| MeSH | C562903 | E | validated | |
| UMLS | C0403812 | E | validated | |
| GARD | 12385 | 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
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AKAP3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:373 | ENSG00000111254 | 604689 | 12p13.32 | A-kinase anchoring protein 3 | 35228300[PMID] |
| ARMC12 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21099 | ENSG00000157343 | 620377 | 6p21.31 | armadillo repeat containing 12 | 35534203[PMID] |
| AURKC | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11391 | ENSG00000105146 | 603495 | 19q13.43 | aurora kinase C | 17435757[PMID]_21733974[PMID] |
| CFAP47 | Disease-causing germline mutation(s) in | Assessed | HGNC:26708 | ENSG00000165164 | 301057 | Xp21.1 | cilia and flagella associated protein 47 | 33472045[PMID] |
| CFAP61 | Disease-causing germline mutation(s) in | Assessed | HGNC:15872 | ENSG00000089101 | 620381 | 20p11.23 | cilia and flagella associated protein 61 | 35387802[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] |
| IFT74 | Disease-causing germline mutation(s) in | Assessed | HGNC:21424 | ENSG00000096872 | 608040 | 9p21.2 | intraflagellar transport 74 | 33689014[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/137893
- This record as JSON: /data/d/137893.json