MCID: MLN084
MIFTS: 20

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 58

Characteristics:

Orphanet epidemiological data:

58
male infertility with azoospermia or oligozoospermia due to single gene mutation
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive;

Classifications:

Orphanet: 58  
Rare infertility disorders


External Ids:

ICD10 via Orphanet 33 N46
Orphanet 58 ORPHA399805
SNOMED-CT via HPO 68 276411001

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 u. 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:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 1 10.1 TEX15 NR5A1
2 fanconi anemia, complementation group u 10.1 XRCC2 FANCM
3 46 xx gonadal dysgenesis 10.1 SYCE1 NR5A1
4 spermatogenic failure 16 10.0 ZMYND15 TAF4B
5 retinitis pigmentosa 24 9.8 TEX11 SYCP3
6 premature menopause 9.7 SYCE1 SOHLH1
7 multiple synostoses syndrome 9.6 SYCE1 SOHLH1 NANOS1
8 oligospermia 9.6 KLHL10 CFTR
9 cryptorchidism, unilateral or bilateral 9.4 SYCP3 SOHLH1 NR5A1
10 premature ovarian failure 1 9.2 SYCP3 SYCE1 SOHLH1 NR5A1
11 infertility 9.1 TEX15 SYCP3 NR5A1 KLHL10 CFTR
12 spermatogenic failure, x-linked, 1 9.0 ZMYND15 TEX11 SYCP3 SOHLH1
13 azoospermia 6.9 ZMYND15 TEX15 TEX14 TEX11 TDRD9 TAF4B

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:

58 31 (show all 7)
# 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 obstructive azoospermia 58 31 frequent (33%) Frequent (79-30%) HP:0011962
5 azoospermia 58 Very frequent (99-80%)
6 abnormal spermatogenesis 58 Very frequent (99-80%)
7 phenotypic abnormality 58 Very frequent (99-80%)

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

45
# 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 9.77 CFTR FANCM KLHL10 MEIOB NR5A1 SOHLH1
3 reproductive system MP:0005389 9.44 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 cytoplasm GO:0005737 10.06 ZMYND15 XRCC2 TEX15 TEX14 TDRD9 TAF4B
2 nucleus GO:0005634 10.03 ZMYND15 XRCC2 TEX15 TDRD9 TAF4B SYCP3
3 chromosome GO:0005694 9.35 TEX14 TEX11 SYCP3 SYCE1 MEIOB
4 central element GO:0000801 9.16 TEX11 SYCE1
5 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 9.35 TEX15 TEX14 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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