MCID: SPR134
MIFTS: 13

Spermatogenic Failure 31

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 31

MalaCards integrated aliases for Spermatogenic Failure 31:

Name: Spermatogenic Failure 31 57 6
Spgf31 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
infertility may be overcome by intracytoplasmic sperm injection


Classifications:



External Ids:

OMIM 57 618112

Summaries for Spermatogenic Failure 31

OMIM : 57 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).

Symptoms & Phenotypes for Spermatogenic Failure 31

Symptoms via clinical synopsis from OMIM:

57
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 rs777263062 GRCh38 Chromosome 16, 72130708: 72130708
2 PMFBP1 NM_031293.2(PMFBP1): c.1462C> T (p.Gln488Ter) single nucleotide variant Pathogenic rs777263062 GRCh37 Chromosome 16, 72164607: 72164607
3 PMFBP1 NM_031293.2(PMFBP1): c.2725C> T (p.Arg909Ter) single nucleotide variant Pathogenic rs140352254 GRCh38 Chromosome 16, 72122957: 72122957
4 PMFBP1 NM_031293.2(PMFBP1): c.2725C> T (p.Arg909Ter) single nucleotide variant Pathogenic rs140352254 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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