MCID: MCR265
MIFTS: 14

Macrozoospermia

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Macrozoospermia

MalaCards integrated aliases for Macrozoospermia:

Name: Macrozoospermia 53 25
Infertility Associated with Multi-Tailed Spermatozoa and Excessive Dna 53 25 29 6 40
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa 53 73
Spermatogenic Failure 5 53 25
Male Infertility Due to Large-Headed Multiflagellar Polyploid Spermatozoa 53
Large-Headed Multiflagellar Polyploid Spermatozoa 25
Male Infertility Due to Macrozoospermia 53
Macrocephalic Sperm Head Syndrome 53
Spgf5 53

Classifications:



External Ids:

UMLS 73 C0403812

Summaries for Macrozoospermia

Genetics Home Reference : 25 Macrozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).

MalaCards based summary : Macrozoospermia, also known as infertility associated with multi-tailed spermatozoa and excessive dna, is related to spermatogenic failure 5 and infertility. An important gene associated with Macrozoospermia is AURKC (Aurora Kinase C).

Related Diseases for Macrozoospermia

Diseases related to Macrozoospermia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 5 11.0
2 infertility 10.1
3 male infertility 9.9

Symptoms & Phenotypes for Macrozoospermia

Drugs & Therapeutics for Macrozoospermia

Search Clinical Trials , NIH Clinical Center for Macrozoospermia

Genetic Tests for Macrozoospermia

Genetic tests related to Macrozoospermia:

# Genetic test Affiliating Genes
1 Infertility Associated with Multi-Tailed Spermatozoa and Excessive Dna 29 AURKC

Anatomical Context for Macrozoospermia

Publications for Macrozoospermia

Articles related to Macrozoospermia:

# Title Authors Year
1
Diagnostic genetic screening for assisted reproductive technologies patients with macrozoospermia. ( 28187507 )
2017
2
Characterization of macrozoospermia-associated AURKC mutations in a mammalian meiotic system. ( 27106102 )
2016
3
Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population. ( 26341096 )
2015
4
Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men. ( 25219909 )
2014
5
Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia. ( 22888167 )
2012
6
A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis. ( 21733974 )
2011

Variations for Macrozoospermia

ClinVar genetic disease variations for Macrozoospermia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AURKC NM_001015879.1(AURKC): c.88delC (p.Leu30Trpfs) deletion Pathogenic rs397515619 GRCh37 Chromosome 19, 57743441: 57743441
2 AURKC NM_001015879.1(AURKC): c.88delC (p.Leu30Trpfs) deletion Pathogenic rs397515619 GRCh38 Chromosome 19, 57232073: 57232073
3 AURKC NM_001015879.1(AURKC): c.629G> A (p.Cys210Tyr) single nucleotide variant Pathogenic rs121908654 GRCh37 Chromosome 19, 57746353: 57746353
4 AURKC NM_001015879.1(AURKC): c.629G> A (p.Cys210Tyr) single nucleotide variant Pathogenic rs121908654 GRCh38 Chromosome 19, 57234985: 57234985
5 AURKC NM_001015879.1(AURKC): c.379-2A> G single nucleotide variant Pathogenic rs397515484 GRCh37 Chromosome 19, 57744826: 57744826
6 AURKC NM_001015879.1(AURKC): c.379-2A> G single nucleotide variant Pathogenic rs397515484 GRCh38 Chromosome 19, 57233458: 57233458

Expression for Macrozoospermia

Search GEO for disease gene expression data for Macrozoospermia.

Pathways for Macrozoospermia

GO Terms for Macrozoospermia

Sources for Macrozoospermia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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