MCID: MLN078
MIFTS: 16

Male Infertility Due to Acephalic Spermatozoa

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Male Infertility Due to Acephalic Spermatozoa

MalaCards integrated aliases for Male Infertility Due to Acephalic Spermatozoa:

Name: Male Infertility Due to Acephalic Spermatozoa 58
Acephalic Spermatozoa Syndrome 58

Classifications:

Orphanet: 58  
Rare infertility disorders


External Ids:

Orphanet 58 ORPHA529970
SNOMED-CT via HPO 68 2904007

Summaries for Male Infertility Due to Acephalic Spermatozoa

MalaCards based summary : Male Infertility Due to Acephalic Spermatozoa, also known as acephalic spermatozoa syndrome, is related to spermatogenic failure 16 and male infertility. An important gene associated with Male Infertility Due to Acephalic Spermatozoa is PMFBP1 (Polyamine Modulated Factor 1 Binding Protein 1). Related phenotypes are male infertility and acephalic spermatozoa

Related Diseases for Male Infertility Due to Acephalic Spermatozoa

Graphical network of the top 20 diseases related to Male Infertility Due to Acephalic Spermatozoa:



Diseases related to Male Infertility Due to Acephalic Spermatozoa

Symptoms & Phenotypes for Male Infertility Due to Acephalic Spermatozoa

Human phenotypes related to Male Infertility Due to Acephalic Spermatozoa:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
2 acephalic spermatozoa 58 31 hallmark (90%) Very frequent (99-80%) HP:0012869
3 oligospermia 58 31 frequent (33%) Frequent (79-30%) HP:0000798
4 reduced sperm motility 58 31 frequent (33%) Frequent (79-30%) HP:0012207
5 abnormal sperm mid-piece morphology 31 occasional (7.5%) HP:0012867
6 abnormality of chromosome segregation 58 Excluded (0%)
7 androgen insufficiency 58 Excluded (0%)
8 sperm mid-piece anomaly 58 Occasional (29-5%)

Drugs & Therapeutics for Male Infertility Due to Acephalic Spermatozoa

Search Clinical Trials , NIH Clinical Center for Male Infertility Due to Acephalic Spermatozoa

Genetic Tests for Male Infertility Due to Acephalic Spermatozoa

Anatomical Context for Male Infertility Due to Acephalic Spermatozoa

Publications for Male Infertility Due to Acephalic Spermatozoa

Articles related to Male Infertility Due to Acephalic Spermatozoa:

(show all 14)
# Title Authors PMID Year
1
Genetic basis of acephalic spermatozoa syndrome, and intracytoplasmic sperm injection outcomes in infertile men: a systematic scoping review. 61
33452591 2021
2
Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa. 61
33671757 2021
3
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice. 61
33118031 2021
4
A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome. 61
33484382 2021
5
[Outcomes of assisted reproductive technology for patients with different types of teratozoospermia]. 61
33377730 2020
6
The coupling apparatus of the sperm head and tail†. 61
31995163 2020
7
[Advances in the molecular genetic studies of acephalic spermatozoa syndrome]. 61
32233213 2019
8
Re: Patients with Acephalic Spermatozoa Syndrome Linked to SUN5 Mutations Have a Favorable Pregnancy Outcome from ICSI. 61
30577352 2019
9
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. 61
30032984 2018
10
Patients with acephalic spermatozoa syndrome linked to SUN5 mutations have a favorable pregnancy outcome from ICSI. 61
29329387 2018
11
Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene. 61
29298896 2018
12
Homozygous deletion of SUN5 in three men with decapitated spermatozoa. 61
28541472 2017
13
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. 61
27912045 2016
14
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. 61
27640305 2016

Variations for Male Infertility Due to Acephalic Spermatozoa

Expression for Male Infertility Due to Acephalic Spermatozoa

Search GEO for disease gene expression data for Male Infertility Due to Acephalic Spermatozoa.

Pathways for Male Infertility Due to Acephalic Spermatozoa

GO Terms for Male Infertility Due to Acephalic Spermatozoa

Cellular components related to Male Infertility Due to Acephalic Spermatozoa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sperm connecting piece GO:0097224 8.62 SUN5 PMFBP1

Biological processes related to Male Infertility Due to Acephalic Spermatozoa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 8.62 SUN5 PMFBP1

Molecular functions related to Male Infertility Due to Acephalic Spermatozoa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 molecular_function GO:0003674 8.62 SUN5 PMFBP1

Sources for Male Infertility Due to Acephalic Spermatozoa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....