SPGF34
MCID: SPR137
MIFTS: 16

Spermatogenic Failure 34 (SPGF34)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 34

MalaCards integrated aliases for Spermatogenic Failure 34:

Name: Spermatogenic Failure 34 58 76 6
Spgf34 58 76
Spermatogenic Failure, Type 34 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 58 618153
MeSH 45 D007248

Summaries for Spermatogenic Failure 34

OMIM : 58 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).

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 34: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including irregular-caliber, short, coiled, or absent flagella.

Symptoms & Phenotypes for Spermatogenic Failure 34

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility
absent sperm flagella
short sperm flagella
coiled sperm flagella
irregular width of sperm flagella
more

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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