MCID: MLN084
MIFTS: 19

Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Male Infertility with Azoospermia or Oligozoospermia Due to...

MalaCards integrated aliases for Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation:

Name: Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 59

Characteristics:

Orphanet epidemiological data:

59
male infertility with azoospermia or oligozoospermia due to single gene mutation
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive;

Classifications:

Orphanet: 59  
Rare infertility disorders


External Ids:

ICD10 via Orphanet 34 N46
Orphanet 59 ORPHA399805

Summaries for Male Infertility with Azoospermia or Oligozoospermia Due to...

MalaCards based summary : Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation is related to spermatogenic failure 1 and fanconi anemia, complementation group q. An important gene associated with Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation is FANCM (FA Complementation Group M). Related phenotypes are increased circulating gonadotropin level and decreased testicular size

Related Diseases for Male Infertility with Azoospermia or Oligozoospermia Due to...

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

# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 1 10.2 TEX15 NR5A1
2 fanconi anemia, complementation group q 10.1 XRCC2 FANCM
3 fanconi anemia, complementation group r 10.0 XRCC2 FANCM
4 oligospermia 9.9 KLHL10 CFTR
5 fanconi anemia, complementation group t 9.8 XRCC2 FANCM
6 premature ovarian failure 1 9.5 SYCE1 SOHLH1 NR5A1
7 azoospermia 9.1 TEX15 SYCP3 SOHLH1

Graphical network of the top 20 diseases related to Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation:



Diseases related to Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation

Symptoms & Phenotypes for Male Infertility with Azoospermia or Oligozoospermia Due to...

Human phenotypes related to Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating gonadotropin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0000837
2 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
3 non-obstructive azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011961
4 obstructive azoospermia 59 32 frequent (33%) Frequent (79-30%) HP:0011962
5 azoospermia 59 Very frequent (99-80%)
6 abnormal spermatogenesis 59 Very frequent (99-80%)
7 phenotypic abnormality 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 FANCM MEIOB NR5A1 SYCE1 TAF4B TDRD9
2 endocrine/exocrine gland MP:0005379 9.73 CFTR FANCM KLHL10 MEIOB NR5A1 SOHLH1
3 reproductive system MP:0005389 9.4 CFTR FANCM KLHL10 MEIOB NR5A1 SOHLH1

Drugs & Therapeutics for Male Infertility with Azoospermia or Oligozoospermia Due to...

Search Clinical Trials , NIH Clinical Center for Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation

Genetic Tests for Male Infertility with Azoospermia or Oligozoospermia Due to...

Anatomical Context for Male Infertility with Azoospermia or Oligozoospermia Due to...

Publications for Male Infertility with Azoospermia or Oligozoospermia Due to...

Variations for Male Infertility with Azoospermia or Oligozoospermia Due to...

Expression for Male Infertility with Azoospermia or Oligozoospermia Due to...

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

Pathways for Male Infertility with Azoospermia or Oligozoospermia Due to...

GO Terms for Male Infertility with Azoospermia or Oligozoospermia Due to...

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.93 ZMYND15 XRCC2 TEX15 TDRD9 TAF4B SYCP3
2 chromosome GO:0005694 9.56 TEX11 SYCP3 SYCE1 MEIOB
3 central element GO:0000801 8.96 TEX11 SYCE1
4 synaptonemal complex GO:0000795 8.8 TEX11 SYCP3 SYCE1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.95 ZMYND15 TEX15 TDRD9 TAF4B SOHLH1 NR5A1
2 spermatogenesis GO:0007283 9.7 ZMYND15 TEX15 TDRD9 TAF4B SYCP3 SOHLH1
3 male gonad development GO:0008584 9.63 TEX11 NR5A1 KLHL10
4 spermatid development GO:0007286 9.61 ZMYND15 SYCP3 KLHL10
5 fertilization GO:0009566 9.56 TEX11 TDRD9 MEIOB KLHL10
6 male meiosis I GO:0007141 9.54 TDRD9 SYCP3 MEIOB
7 oogenesis GO:0048477 9.51 TAF4B SOHLH1
8 resolution of meiotic recombination intermediates GO:0000712 9.5 TEX11 MEIOB FANCM
9 synapsis GO:0007129 9.49 TEX15 MEIOB
10 synaptonemal complex assembly GO:0007130 9.48 TEX11 SYCE1
11 male meiotic nuclear division GO:0007140 9.26 TEX15 TEX11 TDRD9 MEIOB
12 meiotic cell cycle GO:0051321 9.17 XRCC2 TEX15 TEX11 TDRD9 SYCP3 SYCE1

Molecular functions related to Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.17 XRCC2 TAF4B SYCP3 SOHLH1 NR5A1 MEIOB

Sources for Male Infertility with Azoospermia or Oligozoospermia Due to...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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