MCID: SPR089
MIFTS: 20

Spermatogenic Failure 4 malady

Genetic diseases, Rare diseases, Reproductive diseases categories
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Summaries for Spermatogenic Failure 4

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MalaCards based summary: Spermatogenic Failure 4, is also known as male infertility with normal virilization due to meiosis defect and has symptoms including An important gene associated with Spermatogenic Failure 4 is SYCP3 (synaptonemal complex protein 3).

Descriptions from OMIM:46 108420,258150,270960,309120

Aliases & Classifications for Spermatogenic Failure 4

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Spermatogenic Failure 4, Aliases & Descriptions:

Name: Spermatogenic Failure 4 46 62
Male Infertility with Normal Virilization Due to Meiosis Defect 48 46
Male Infertility with Normal Virilization Due to Maturation Arrest 48
 
Azoospermia Due to Maturation Arrest 48
Azoospermia Due to Meiosis Defect 48


Classifications:

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


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Related Diseases for Spermatogenic Failure 4

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Symptoms for Spermatogenic Failure 4

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Symptoms by clinical synopsis from OMIM:

258150

Clinical features from OMIM:

108420,258150,270960,309120

HPO human phenotypes related to Spermatogenic Failure 4:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 infertility HP:0000789
3 abnormality of metabolism/homeostasis HP:0001939
4 autosomal dominant inheritance HP:0000006
5 autosomal recessive inheritance HP:0000007
6 azoospermia HP:0000027
7 abnormality of metabolism/homeostasis HP:0001939
8 recurrent spontaneous abortion HP:0200067

Drugs & Therapeutics for Spermatogenic Failure 4

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Drug clinical trials:

Search ClinicalTrials for Spermatogenic Failure 4

Search NIH Clinical Center for Spermatogenic Failure 4

Genetic Tests for Spermatogenic Failure 4

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Anatomical Context for Spermatogenic Failure 4

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Animal Models for Spermatogenic Failure 4 or affiliated genes

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Publications for Spermatogenic Failure 4

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Variations for Spermatogenic Failure 4

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Clinvar genetic disease variations for Spermatogenic Failure 4:

6
id Gene Name 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

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Expression patterns in normal tissues for genes affiliated with Spermatogenic Failure 4

Search GEO for disease gene expression data for Spermatogenic Failure 4.

Pathways for genes affiliated with Spermatogenic Failure 4

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Compounds for genes affiliated with Spermatogenic Failure 4

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GO Terms for genes affiliated with Spermatogenic Failure 4

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Products for genes affiliated with Spermatogenic Failure 4

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  • Antibodies
  • Proteins
  • Lysates

Sources for Spermatogenic Failure 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet