ORPHA:276234

Non-syndromic male infertility due to sperm motility disorder

Synonyms: Non-syndromic male infertility due asthenozoospermia

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Adult
Status: active

Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Non-syndromic male infertility due to sperm motility disorder	Non-syndromic male infertility due asthenozoospermia
fr	Infertilité masculine non syndromique par défaut de motilité	Infertilité masculine non syndromique par asthénozoospermie
de	Männliche Infertilität durch Störung der Spermienmotilität, nicht syndromal	Männliche Infertilität durch Asthenozoospermie, nicht syndromal
es	Infertilidad masculina no sindrómica por un trastorno de motilidad del esperma	Infertilidad masculina no sindrómica por astenozoospermia
it	Infertilità maschile non sindromica da disturbo della motilità degli spermatozoi	Infertilità maschile non sindromica da astenozoospermia
nl	Niet-syndromale mannelijke onvruchtbaarheid als gevolg van een spermamotiliteitsstoornis	Niet-syndromale mannelijke onvruchtbaarheid als gevolg van asthenozoöspermie
pt	Infertilidade masculina não sindromática por doença da motilidade do esperma
pl	Niesyndromiczna niepłodność męska spowodowana zaburzeniem ruchliwości plemników	Niesyndromiczna niepłodność męska spowodowana astenozoospermią
cs	Nesyndromická mužská neplodnost způsobená poruchou motility spermií	Nesyndromická mužská neplodnost způsobená astenozoospermií
uk	Несиндромальне чоловіче безпліддя через порушення рухливості сперматозоїдів	Несиндромальне чоловіче безпліддя внаслідок астенозооспермії
zh	精子活力障碍所致非综合征性男性不育	弱精症所致非综合征性男性不育
tr	Sperm motilite bozukluğuna bağlı sendromik olmayan erkek infertilitesi	Astenozoospermiye bağlı sendromik olmayan erkek infertilitesi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	301099	BTNT		validated
OMIM	301101	BTNT		validated
OMIM	606766	BTNT		validated
OMIM	612997	BTNT		validated
OMIM	614822	BTNT		validated
OMIM	617576	BTNT		validated
OMIM	617592	BTNT		validated
OMIM	617593	BTNT		validated
OMIM	617959	BTNT		validated
OMIM	617965	BTNT		validated
OMIM	618152	BTNT		validated
OMIM	618153	BTNT		validated
OMIM	618429	BTNT		validated
OMIM	618433	BTNT		validated
OMIM	618643	BTNT		validated
OMIM	618664	BTNT		validated
OMIM	618670	BTNT		validated
OMIM	618745	BTNT		validated
OMIM	618751	BTNT		validated
OMIM	620277	BTNT		validated
OMIM	620354	BTNT		validated
OMIM	620705	BTNT		validated
ICD-10	N46	NTBT	attributed	validated
ICD-11	GB04.Y	NTBT	attributed	validated
MONDO	0017173	E		validated
UMLS	C0403811	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98047Rare infertility

Parents in the classifications (1):

ORPHA:399813Male infertility due to sperm motility disorder
rare genetic diseases; rare infertility disorders

No children.

Genes

26 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AKAP4	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:374	ENSG00000147081	300185	Xp11.22	A-kinase anchoring protein 4	34415320[PMID]
CFAP43	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:26684	ENSG00000197748	617558	10q25.1	cilia and flagella associated protein 43	28552195[PMID]
CFAP44	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:25631	ENSG00000206530	617559	3q13.2	cilia and flagella associated protein 44	28552195[PMID]
DRC1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:24245	ENSG00000157856	615288	2p23.3	dynein regulatory complex subunit 1	34169321[PMID]
SPEF2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:26293	ENSG00000152582	610172	5p13.2	sperm flagellar and cilia associated 2	31151990[PMID]
ACTL9	Disease-causing germline mutation(s) in	Assessed	HGNC:28494	ENSG00000181786	619251	19p13.2	actin like 9	33626338[PMID]
AK7	Disease-causing germline mutation(s) in	Assessed	HGNC:20091	ENSG00000140057	615364	14q32.2	adenylate kinase 7	29365104[PMID]
AK9	Disease-causing germline mutation(s) in	Assessed	HGNC:33814	ENSG00000155085	615358	6q21	adenylate kinase 9	37713809[PMID]
ARMC2	Disease-causing germline mutation(s) in	Assessed	HGNC:23045	ENSG00000118690	618424	6q21	armadillo repeat containing 2	30686508[PMID]
CATSPER1	Disease-causing germline mutation(s) in	Assessed	HGNC:17116	ENSG00000175294	606389	11q13.1	cation channel sperm associated 1	19344877[PMID]
CFAP251	Disease-causing germline mutation(s) in	Assessed	HGNC:28506	ENSG00000158023	618146	12q24.31	cilia and flagella associated protein 251	30122540[PMID]
CFAP65	Disease-causing germline mutation(s) in	Assessed	HGNC:25325	ENSG00000181378	614270	2q35	cilia and flagella associated protein 65	31413122[PMID]
CFAP69	Disease-causing germline mutation(s) in	Assessed	HGNC:26107	ENSG00000105792	617949	7q21.13	cilia and flagella associated protein 69	29606301[PMID]
CFAP70	Disease-causing germline mutation(s) in	Assessed	HGNC:30726	ENSG00000156042	618661	10q22.2	cilia and flagella associated protein 70	31621862[PMID]
DNAH1	Disease-causing germline mutation(s) in	Assessed	HGNC:2940	ENSG00000114841	603332	3p21.1	dynein axonemal heavy chain 1	24360805[PMID]
DNAH17	Disease-causing germline mutation(s) in	Assessed	HGNC:2946	ENSG00000187775	610063	17q25.3	dynein axonemal heavy chain 17	31178125[PMID]
DNALI1	Disease-causing germline mutation(s) in	Assessed	HGNC:14353	ENSG00000163879	602135	1p34.3	dynein axonemal light intermediate chain 1	36792588[PMID]_36726469[PMID]
FSIP2	Disease-causing germline mutation(s) in	Assessed	HGNC:21675	ENSG00000188738	615796	2q32.1	fibrous sheath interacting protein 2	30137358[PMID]
SEPTIN12	Disease-causing germline mutation(s) in	Assessed	HGNC:26348	ENSG00000140623	611562	16p13.3	septin 12	22275165[PMID]
SLC26A8	Disease-causing germline mutation(s) in	Assessed	HGNC:14468	ENSG00000112053	608480	6p21.31	solute carrier family 26 member 8	23582645[PMID]
SPAG17	Disease-causing germline mutation(s) in	Assessed	HGNC:26620	ENSG00000155761	616554	1p12	sperm associated antigen 17	28548327[PMID]
SSX1	Disease-causing germline mutation(s) in	Assessed	HGNC:11335	ENSG00000126752	312820	Xp11.23	SSX family member 1	36796361[PMID]
TEKT3	Disease-causing germline mutation(s) in	Assessed	HGNC:14293	ENSG00000125409	612683	17p12	tektin 3	36708031[PMID]
TTC21A	Disease-causing germline mutation(s) in	Assessed	HGNC:30761	ENSG00000168026	611430	3p22.2	tetratricopeptide repeat domain 21A	30929735[PMID]
TTC29	Disease-causing germline mutation(s) in	Assessed	HGNC:29936	ENSG00000137473	618735	4q31.22	tetratricopeptide repeat domain 29	31735292[PMID]_31735294[PMID]
USP26	Disease-causing germline mutation(s) in	Assessed	HGNC:13485	ENSG00000134588	300309	Xq26.2	ubiquitin specific peptidase 26	34202084[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/276234
This record as JSON: /data/d/276234.json