SPGF35
MCID: SPR140
MIFTS: 16

Spermatogenic Failure 35 (SPGF35)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 35

MalaCards integrated aliases for Spermatogenic Failure 35:

Name: Spermatogenic Failure 35 58 76 6
Spgf35 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 58 618341
MeSH 45 D007248
MedGen 43 CN258225

Summaries for Spermatogenic Failure 35

OMIM : 58 Spermatogenic failure-35 is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in spermatozoa with severely impaired motility and infertility. Short, thickened, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of axonemal composition are also present (Shen et al., 2019). (618341)

MalaCards based summary : Spermatogenic Failure 35, is also known as spgf35. An important gene associated with Spermatogenic Failure 35 is QRICH2 (Glutamine Rich 2).

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 35: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum and severely impaired spermatozoa motility.

Symptoms & Phenotypes for Spermatogenic Failure 35

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
infertility
absent sperm flagella
short sperm flagella
coiled sperm flagella
reduced progressive motility of spermatozoa, severe
more

Clinical features from OMIM:

618341

Drugs & Therapeutics for Spermatogenic Failure 35

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 35

Genetic Tests for Spermatogenic Failure 35

Anatomical Context for Spermatogenic Failure 35

Publications for Spermatogenic Failure 35

Articles related to Spermatogenic Failure 35:

# Title Authors Year
1
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella. ( 30683861 )
2019

Variations for Spermatogenic Failure 35

ClinVar genetic disease variations for Spermatogenic Failure 35:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 QRICH2 NM_032134.2(QRICH2): c.192G> A (p.Trp64Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 74300511: 74300511
2 QRICH2 NM_032134.2(QRICH2): c.192G> A (p.Trp64Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 76304430: 76304430
3 QRICH2 NM_032134.2(QRICH2): c.3037C> T (p.Arg1013Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 76291192: 76291192
4 QRICH2 NM_032134.2(QRICH2): c.3037C> T (p.Arg1013Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 74287273: 74287273

Expression for Spermatogenic Failure 35

Search GEO for disease gene expression data for Spermatogenic Failure 35.

Pathways for Spermatogenic Failure 35

GO Terms for Spermatogenic Failure 35

Sources for Spermatogenic Failure 35

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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