MCID: MLN078
MIFTS: 16

Male Infertility Due to Acephalic Spermatozoa

Categories: 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 60
Acephalic Spermatozoa Syndrome 60

Classifications:

Orphanet: 60  
Rare infertility disorders


External Ids:

Orphanet 60 ORPHA529970
SNOMED-CT via HPO 70 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 spermatogenic failure 31. An important gene associated with Male Infertility Due to Acephalic Spermatozoa is SUN5 (Sad1 And UNC84 Domain Containing 5). Related phenotypes are male infertility and acephalic spermatozoa

Related Diseases for Male Infertility Due to Acephalic Spermatozoa

Diseases in the Male Infertility family:

Catsper-Related Male Infertility Catsper1-Related Nonsyndromic Male Infertility
Male Infertility Due to Acephalic Spermatozoa

Diseases related to Male Infertility Due to Acephalic Spermatozoa via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 16 32.5 PMFBP1 SUN5
2 spermatogenic failure 31 10.2

Symptoms & Phenotypes for Male Infertility Due to Acephalic Spermatozoa

Human phenotypes related to Male Infertility Due to Acephalic Spermatozoa:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 male infertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0003251
2 acephalic spermatozoa 60 33 hallmark (90%) Very frequent (99-80%) HP:0012869
3 oligospermia 60 33 frequent (33%) Frequent (79-30%) HP:0000798
4 reduced sperm motility 60 33 frequent (33%) Frequent (79-30%) HP:0012207
5 sperm mid-piece anomaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0012867
6 abnormality of chromosome segregation 60 Excluded (0%)
7 androgen insufficiency 60 Excluded (0%)

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:

# Title Authors Year
1
Re: Patients with Acephalic Spermatozoa Syndrome Linked to SUN5 Mutations Have a Favorable Pregnancy Outcome from ICSI. ( 30577352 )
2019
2
Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene. ( 29298896 )
2018
3
Patients with acephalic spermatozoa syndrome linked to SUN5 mutations have a favorable pregnancy outcome from ICSI. ( 29329387 )
2018
4
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. ( 30032984 )
2018
5
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. ( 27640305 )
2016
6
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. ( 27912045 )
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

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 PMFBP1 SUN5

Sources for Male Infertility Due to Acephalic Spermatozoa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....