MCID: MLN056
MIFTS: 4

Male Infertility with Teratozoospermia Due to Single Gene Mutation

Categories: Rare 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 54 6

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

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 399808Disease definitionMale infertility with teratozoospermia due to single genemutation 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Male Infertility with Teratozoospermia Due to Single Gene Mutation An important gene associated with Male Infertility with Teratozoospermia Due to Single Gene Mutation is WDR66 (WD Repeat Domain 66). Related phenotypes are increased circulating gonadotropin level and decreased testicular size

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

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

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

33
# Description HPO Frequency HPO Source Accession
1 increased circulating gonadotropin level 33 hallmark (90%) HP:0000837
2 decreased testicular size 33 hallmark (90%) HP:0008734
3 non-obstructive azoospermia 33 hallmark (90%) HP:0011961
4 globozoospermia 33 hallmark (90%) HP:0012205
5 sperm tail anomaly 33 hallmark (90%) HP:0012868

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...

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 Variation Type Significance SNP ID Assembly Location
1 WDR66 NM_144668.5(WDR66): c.331G> T (p.Glu111Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 122359542: 122359542
2 WDR66 NM_144668.5(WDR66): c.331G> T (p.Glu111Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 121921636: 121921636
3 WDR66 NM_144668.5(WDR66): c.123delA (p.Asp42Metfs) deletion Pathogenic GRCh38 Chromosome 12, 121921428: 121921428
4 WDR66 NM_144668.5(WDR66): c.123delA (p.Asp42Metfs) deletion Pathogenic GRCh37 Chromosome 12, 122359334: 122359334

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...

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

3 CDC
7 CNVD
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10 dbSNP
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18 ExPASy
20 FMA
29 GO
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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