MCID: SPR089
MIFTS: 21

Spermatogenic Failure 4 malady

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 4

About this section

Aliases & Descriptions for Spermatogenic Failure 4:

Name: Spermatogenic Failure 4 52 24 70 12
Azoospermia Due to Perturbations of Meiosis 24 70
Azoospermia with Maturation Arrest 24 70
Pregnancy Loss, Recurrent, 4 70 27
 
Spermatogenesis Arrest 24 70
Arrest of Spermatogenesis 68
Rprgl4 70
Spgf4 70

Characteristics:

HPO:

64

Classifications:



External Ids:

OMIM52 270960

Summaries for Spermatogenic Failure 4

About this section
OMIM:52 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, also known as azoospermia due to perturbations of meiosis, is related to spermatogenesis arrest and pregnancy loss, recurrent 1, and has symptoms including azoospermia, abnormality of metabolism/homeostasis and recurrent spontaneous abortion. An important gene associated with Spermatogenic Failure 4 is SYCP3 (Synaptonemal Complex Protein 3). Affiliated tissues include testis.

UniProtKB/Swiss-Prot:70 Pregnancy loss, recurrent, 4: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. Spermatogenic failure 4: An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes.

Related Diseases for Spermatogenic Failure 4

About this section

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 3
Spermatogenic Failure 8 Spermatogenic Failure 12
Spermatogenic Failure 7 Spermatogenic Failure 9
spermatogenic failure 4 Spermatogenic Failure 10
Spermatogenic Failure 14 Spermatogenic Failure 11
Spermatogenic Failure 13 Spermatogenic Failure 5

Diseases related to Spermatogenic Failure 4 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1spermatogenesis arrest12.5
2pregnancy loss, recurrent 110.9

Symptoms & Phenotypes for Spermatogenic Failure 4

About this section

Symptoms by clinical synopsis from OMIM:

270960

Clinical features from OMIM:

270960

Human phenotypes related to Spermatogenic Failure 4:

 64
id Description HPO Frequency HPO Source Accession
1 azoospermia64 HP:0000027
2 abnormality of metabolism/homeostasis64 HP:0001939
3 recurrent spontaneous abortion64 HP:0200067

UMLS symptoms related to Spermatogenic Failure 4:


complete spermatogenic arrest, incomplete spermatogenic arrest, infertility/subfertility male

Drugs & Therapeutics for Spermatogenic Failure 4

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Identification of Predictive Markers for Testis Cancer in a Population of Men With High RiskTerminatedNCT00820287

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 Recurrent Pregnancy Loss 427
2 Spermatogenic Failure 424 SYCP3

Anatomical Context for Spermatogenic Failure 4

About this section

MalaCards organs/tissues related to Spermatogenic Failure 4:

36
Testis

Publications for Spermatogenic Failure 4

About this section

Variations for Spermatogenic Failure 4

About this section

Clinvar genetic disease variations for Spermatogenic Failure 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SYCP3SYCP3, 1-BP DEL, 643AdeletionPathogenicChr na, -1: -1
2SYCP3NM_153694.4(SYCP3): c.553-21_553-18delACTTdeletionPathogenicrs587776620GRCh37Chr 12, 102123009: 102123012
3SYCP3NM_153694.4(SYCP3): c.657T> C (p.Thr219=)SNVPathogenicrs769825641GRCh37Chr 12, 102122887: 102122887

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

GO Terms for genes affiliated with Spermatogenic Failure 4

About this section

Sources for Spermatogenic Failure 4

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet