MCID: MLN056
MIFTS: 20

Male Infertility with Teratozoospermia Due to Single Gene Mutation

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Male Infertility with Teratozoospermia Due to Single Gene...

MalaCards integrated aliases for Male Infertility with Teratozoospermia Due to Single Gene Mutation:

Name: Male Infertility with Teratozoospermia Due to Single Gene Mutation 20 58 6

Classifications:

Orphanet: 58  
Rare infertility disorders


External Ids:

ICD10 via Orphanet 33 N46
Orphanet 58 ORPHA399808
SNOMED-CT via HPO 68 236818008 276411001

Summaries for Male Infertility with Teratozoospermia Due to Single Gene...

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 399808 Definition Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail.

MalaCards based summary : Male Infertility with Teratozoospermia Due to Single Gene Mutation is related to male infertility and non-syndromic male infertility due to sperm motility disorder. An important gene associated with Male Infertility with Teratozoospermia Due to Single Gene Mutation is ARMC2 (Armadillo Repeat Containing 2). Related phenotypes are increased circulating gonadotropin level and decreased testicular size

Related Diseases for Male Infertility with Teratozoospermia Due to Single Gene...

Diseases related to Male Infertility with Teratozoospermia Due to Single Gene Mutation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 male infertility 9.8 CFAP91 CFAP251
2 non-syndromic male infertility due to sperm motility disorder 9.8 CFAP251 ARMC2
3 spermatogenic failure 38 9.7 ARMC2-AS1 ARMC2
4 rigid spine muscular dystrophy 1 9.6 CFAP91 CFAP251

Symptoms & Phenotypes for Male Infertility with Teratozoospermia Due to Single Gene...

Human phenotypes related to Male Infertility with Teratozoospermia Due to Single Gene Mutation:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
2 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
3 non-obstructive azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011961
4 globozoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012205
5 abnormal sperm tail morphology 31 hallmark (90%) HP:0012868
6 phenotypic abnormality 58 Very frequent (99-80%)
7 abnormal spermatogenesis 58 Very frequent (99-80%)
8 abnormal sperm morphology 58 Very frequent (99-80%)
9 sperm tail anomaly 58 Very frequent (99-80%)

Drugs & Therapeutics for Male Infertility with Teratozoospermia Due to Single Gene...

Search Clinical Trials , NIH Clinical Center for Male Infertility with Teratozoospermia Due to Single Gene Mutation

Genetic Tests for Male Infertility with Teratozoospermia Due to Single Gene...

Anatomical Context for Male Infertility with Teratozoospermia Due to Single Gene...

Publications for Male Infertility with Teratozoospermia Due to Single Gene...

Articles related to Male Infertility with Teratozoospermia Due to Single Gene Mutation:

# Title Authors PMID Year
1
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 6
30686508 2019

Variations for Male Infertility with Teratozoospermia Due to Single Gene...

ClinVar genetic disease variations for Male Infertility with Teratozoospermia Due to Single Gene Mutation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFAP251 NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) SNV Pathogenic 548449 rs199671406 GRCh37: 12:122359542-122359542
GRCh38: 12:121921636-121921636
2 CFAP251 NM_144668.6(CFAP251):c.123del (p.Asp42fs) Deletion Pathogenic 548450 rs749163856 GRCh37: 12:122359331-122359331
GRCh38: 12:121921425-121921425
3 ARMC2 NM_032131.6(ARMC2):c.1023+1G>A SNV Pathogenic 617790 rs1562372417 GRCh37: 6:109225609-109225609
GRCh38: 6:108904406-108904406
4 ARMC2 NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn) SNV Pathogenic 627628 rs1562435988 GRCh37: 6:109285509-109285509
GRCh38: 6:108964306-108964306
5 ARMC2 NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs) Deletion Pathogenic 627629 rs1562436860 GRCh37: 6:109286249-109286250
GRCh38: 6:108965046-108965047
6 ARMC2-AS1 , ARMC2 NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs) Deletion Pathogenic 627630 rs1562381747 GRCh37: 6:109233692-109233696
GRCh38: 6:108912489-108912493
7 ARMC2 NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter) SNV Pathogenic 627631 rs1562332833 GRCh37: 6:109190156-109190156
GRCh38: 6:108868953-108868953
8 CFAP91 NM_033364.4(CFAP91):c.682+1G>A SNV Pathogenic 812095 rs147597066 GRCh37: 3:119434591-119434591
GRCh38: 3:119715744-119715744
9 CFAP91 NM_033364.4(CFAP91):c.124G>C (p.Asp42His) SNV Pathogenic 812096 rs149348782 GRCh37: 3:119422069-119422069
GRCh38: 3:119703222-119703222

Expression for Male Infertility with Teratozoospermia Due to Single Gene...

Search GEO for disease gene expression data for Male Infertility with Teratozoospermia Due to Single Gene Mutation.

Pathways for Male Infertility with Teratozoospermia Due to Single Gene...

GO Terms for Male Infertility with Teratozoospermia Due to Single Gene...

Cellular components related to Male Infertility with Teratozoospermia Due to Single Gene Mutation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.16 CFAP91 CFAP251
2 axoneme GO:0005930 8.96 CFAP91 CFAP251
3 radial spoke stalk GO:0001536 8.62 CFAP91 CFAP251

Biological processes related to Male Infertility with Teratozoospermia Due to Single Gene Mutation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium movement GO:0003341 8.62 CFAP91 CFAP251

Sources for Male Infertility with Teratozoospermia Due to Single Gene...

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
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