SPGF31
MCID: SPR134
MIFTS: 15

Spermatogenic Failure 31 (SPGF31)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 31

MalaCards integrated aliases for Spermatogenic Failure 31:

Name: Spermatogenic Failure 31 58 76 6
Spgf31 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
infertility may be overcome by intracytoplasmic sperm injection


Classifications:



External Ids:

OMIM 58 618112
MeSH 45 D007248
MedGen 43 CN253820

Summaries for Spermatogenic Failure 31

OMIM : 58 SPGF31 is characterized by male infertility due to oligozoospermia with a high proportion (greater than 90%) of acephalic sperm. Affected couples may overcome infertility with intracytoplasmic sperm injection (Zhu et al., 2018). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150. (618112)

MalaCards based summary : Spermatogenic Failure 31, is also known as spgf31. An important gene associated with Spermatogenic Failure 31 is PMFBP1 (Polyamine Modulated Factor 1 Binding Protein 1).

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 31: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm.

Symptoms & Phenotypes for Spermatogenic Failure 31

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
oligozoospermia
no progressively motile sperm
acephalic sperm (more than 95%)
sperm with abnormal head-tail junction
tailless sperm

Clinical features from OMIM:

618112

Drugs & Therapeutics for Spermatogenic Failure 31

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 31

Genetic Tests for Spermatogenic Failure 31

Anatomical Context for Spermatogenic Failure 31

Publications for Spermatogenic Failure 31

Variations for Spermatogenic Failure 31

ClinVar genetic disease variations for Spermatogenic Failure 31:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PMFBP1 NM_031293.2(PMFBP1): c.1462C> T (p.Gln488Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 72130708: 72130708
2 PMFBP1 NM_031293.2(PMFBP1): c.1462C> T (p.Gln488Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 72164607: 72164607
3 PMFBP1 NM_031293.2(PMFBP1): c.2725C> T (p.Arg909Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 72122957: 72122957
4 PMFBP1 NM_031293.2(PMFBP1): c.2725C> T (p.Arg909Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 72156856: 72156856
5 PMFBP1 NM_031293.2(PMFBP1): c.2092delG (p.Ala698Profs) deletion Pathogenic GRCh38 Chromosome 16, 72126129: 72126129
6 PMFBP1 NM_031293.2(PMFBP1): c.2092delG (p.Ala698Profs) deletion Pathogenic GRCh37 Chromosome 16, 72160028: 72160028
7 PMFBP1 NM_031293.2(PMFBP1): c.2561_2562del (p.Lys854Argfs) deletion Pathogenic GRCh37 Chromosome 16, 72158693: 72158694
8 PMFBP1 NM_031293.2(PMFBP1): c.2561_2562del (p.Lys854Argfs) deletion Pathogenic GRCh38 Chromosome 16, 72124794: 72124795
9 PMFBP1 NM_031293.2(PMFBP1): c.327T> A (p.Tyr109Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 72154298: 72154298
10 PMFBP1 NM_031293.2(PMFBP1): c.327T> A (p.Tyr109Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 72188197: 72188197

Expression for Spermatogenic Failure 31

Search GEO for disease gene expression data for Spermatogenic Failure 31.

Pathways for Spermatogenic Failure 31

GO Terms for Spermatogenic Failure 31

Sources for Spermatogenic Failure 31

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
Content
Loading form....