MCID: SPR137
MIFTS: 11

Spermatogenic Failure 34

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 34

MalaCards integrated aliases for Spermatogenic Failure 34:

Name: Spermatogenic Failure 34 57 6
Spgf34 57

Classifications:



External Ids:

OMIM 57 618153

Summaries for Spermatogenic Failure 34

OMIM : 57 Spermatogenic failure-34 is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present (Martinez et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618153)

MalaCards based summary : Spermatogenic Failure 34, is also known as spgf34. An important gene associated with Spermatogenic Failure 34 is FSIP2 (Fibrous Sheath Interacting Protein 2).

Symptoms & Phenotypes for Spermatogenic Failure 34

Clinical features from OMIM:

618153

Drugs & Therapeutics for Spermatogenic Failure 34

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 34

Genetic Tests for Spermatogenic Failure 34

Anatomical Context for Spermatogenic Failure 34

Publications for Spermatogenic Failure 34

Variations for Spermatogenic Failure 34

ClinVar genetic disease variations for Spermatogenic Failure 34:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FSIP2 NM_173651.3(FSIP2): c.1607_1616delAAAGATTGCAinsTGT (p.Lys536Metfs) indel Pathogenic GRCh37 Chromosome 2, 186653470: 186653479
2 FSIP2 NM_173651.3(FSIP2): c.1607_1616delAAAGATTGCAinsTGT (p.Lys536Metfs) indel Pathogenic GRCh38 Chromosome 2, 185788743: 185788752
3 FSIP2 NM_173651.3(FSIP2): c.16393_16396del (p.Asn5465Glufs) deletion Pathogenic GRCh37 Chromosome 2, 186670426: 186670429
4 FSIP2 NM_173651.3(FSIP2): c.16393_16396del (p.Asn5465Glufs) deletion Pathogenic GRCh38 Chromosome 2, 185805699: 185805702
5 FSIP2 NM_173651.3(FSIP2): c.910del (p.Gln304Lysfs) deletion Pathogenic GRCh37 Chromosome 2, 186618488: 186618488
6 FSIP2 NM_173651.3(FSIP2): c.910del (p.Gln304Lysfs) deletion Pathogenic GRCh38 Chromosome 2, 185753761: 185753761
7 FSIP2 NM_173651.3(FSIP2): c.2282dup (p.Asn761Lysfs) duplication Pathogenic GRCh38 Chromosome 2, 185789418: 185789418
8 FSIP2 NM_173651.3(FSIP2): c.2282dup (p.Asn761Lysfs) duplication Pathogenic GRCh37 Chromosome 2, 186654145: 186654145

Expression for Spermatogenic Failure 34

Search GEO for disease gene expression data for Spermatogenic Failure 34.

Pathways for Spermatogenic Failure 34

GO Terms for Spermatogenic Failure 34

Sources for Spermatogenic Failure 34

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