MCID: SPR089
MIFTS: 14

Spermatogenic Failure 4 malady

Genetic diseases (common), Reproductive diseases categories

Summaries for Spermatogenic Failure 4

About this section


OMIM:45 Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2... (270960) more...

MalaCards based summary: Spermatogenic Failure 4, is also known as azoospermia due to perturbations of meiosis, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and azoospermia. An important gene associated with Spermatogenic Failure 4 is SYCP3 (synaptonemal complex protein 3).

Aliases & Classifications for Spermatogenic Failure 4

About this section

Spermatogenic Failure 4, Aliases & Descriptions:

Name: Spermatogenic Failure 4 45 10
Azoospermia Due to Perturbations of Meiosis 20
 
Arrest of Spermatogenesis 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Reproductive diseases


External Ids:

OMIM45 270960

Related Diseases for Spermatogenic Failure 4

About this section

Symptoms for Spermatogenic Failure 4

About this section

Symptoms by clinical synopsis from OMIM:

270960

Clinical features from OMIM:

270960

HPO human phenotypes related to Spermatogenic Failure 4:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 azoospermia HP:0000027
4 abnormality of metabolism/homeostasis HP:0001939
5 recurrent spontaneous abortion HP:0200067

Drugs & Therapeutics for Spermatogenic Failure 4

About this section

Drug clinical trials:

Search ClinicalTrials for Spermatogenic Failure 4

Search NIH Clinical Center for Spermatogenic Failure 4

Genetic Tests for Spermatogenic Failure 4

About this section

Genetic tests related to Spermatogenic Failure 4:

id Genetic test Affiliating Genes
1 Azoospermia Due to Perturbations of Meiosis20 SYCP3

Anatomical Context for Spermatogenic Failure 4

About this section

Animal Models for Spermatogenic Failure 4 or affiliated genes

About this section

Publications for Spermatogenic Failure 4

About this section

Variations for Spermatogenic Failure 4

About this section

Clinvar genetic disease variations for Spermatogenic Failure 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SYCP3SYCP3, 1-BP DEL, 643AdeletionPathogenic
2SYCP3NM_153694.4(SYCP3): c.553-21_553-18delACTTdeletionrisk factorGRCh37Chr 12, 102123009: 102123012
3SYCP3SYCP3, 657T-Csingle nucleotide variantrisk factor

Expression for genes affiliated with Spermatogenic Failure 4

About this section
Search GEO for disease gene expression data for Spermatogenic Failure 4.

Pathways for genes affiliated with Spermatogenic Failure 4

About this section

Compounds for genes affiliated with Spermatogenic Failure 4

About this section

GO Terms for genes affiliated with Spermatogenic Failure 4

About this section

Products for genes affiliated with Spermatogenic Failure 4

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Spermatogenic Failure 4

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet