SPGF31
MCID: SPR134
MIFTS: 19

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 56 73 29 6
Spgf31 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
infertility may be overcome by intracytoplasmic sperm injection


HPO:

31
spermatogenic failure 31:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618112
OMIM Phenotypic Series 56 PS258150
MeSH 43 D007248
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 31

OMIM : 56 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). Related phenotypes are male infertility and acephalic spermatozoa

UniProtKB/Swiss-Prot : 73 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

Human phenotypes related to Spermatogenic Failure 31:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 acephalic spermatozoa 31 very rare (1%) HP:0012869

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Spermatogenic Failure 31:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 31 29 PMFBP1

Anatomical Context for Spermatogenic Failure 31

Publications for Spermatogenic Failure 31

Articles related to Spermatogenic Failure 31:

# Title Authors PMID Year
1
Biallelic mutations in PMFBP1 cause acephalic spermatozoa. 56 6
30298696 2019
2
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. 56 6
30032984 2018
3
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. 56
27640305 2016

Variations for Spermatogenic Failure 31

ClinVar genetic disease variations for Spermatogenic Failure 31:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMFBP1 NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter)SNV Pathogenic 560417 rs777263062 16:72164607-72164607 16:72130708-72130708
2 PMFBP1 NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter)SNV Pathogenic 560418 rs140352254 16:72156856-72156856 16:72122957-72122957
3 PMFBP1 NM_031293.3(PMFBP1):c.2092del (p.Ala698fs)deletion Pathogenic 560419 rs1567621034 16:72160028-72160028 16:72126129-72126129
4 PMFBP1 NM_031293.3(PMFBP1):c.2561_2562del (p.Lys854fs)deletion Pathogenic 619946 rs772371753 16:72158693-72158694 16:72124794-72124795
5 PMFBP1 NM_031293.3(PMFBP1):c.327T>A (p.Tyr109Ter)SNV Pathogenic 619947 rs759127010 16:72188197-72188197 16:72154298-72154298
6 PMFBP1 NM_031293.3(PMFBP1):c.2278_2281del (p.Lys760fs)deletion Pathogenic 807468 16:72159277-72159280 16:72125378-72125381

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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