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Non-syndromic male infertility due to sperm motility disorder

MedGen UID:
588669
•Concept ID:
C0403811
•
Disease or Syndrome
Synonyms: Congenital impairment of sperm motility; Congenital impairment of spermatozoa motility; Non-syndromic male infertility due asthenozoospermia
SNOMED CT: Congenital impairment of sperm motility (236805000); Congenital impairment of spermatozoa motility (236805000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Orphanet: ORPHA276234

Definition

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Non-syndromic male infertility due to sperm motility disorder

Recent clinical studies

Diagnosis

Non-syndromic monogenic male infertility.
Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E, Cannarella R, Calogero AE, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):62-67. doi: 10.23750/abm.v90i10-S.8762. PMID: 31577257Free PMC Article

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