SPGF28
MCID: SPR131
MIFTS: 19

Spermatogenic Failure 28 (SPGF28)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 28

MalaCards integrated aliases for Spermatogenic Failure 28:

Name: Spermatogenic Failure 28 58 76 6
Spgf28 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 58 618086
MeSH 45 D007248
MedGen 43 CN252694
SNOMED-CT via HPO 70 425558002 48188009

Summaries for Spermatogenic Failure 28

OMIM : 58 Spermatogenic failure-28 is characterized by nonobstructive azoospermia, with a Sertoli cell-only phenotype observed in testicular tissue (Kasak et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618086)

MalaCards based summary : Spermatogenic Failure 28, is also known as spgf28. An important gene associated with Spermatogenic Failure 28 is FANCM (FA Complementation Group M). Affiliated tissues include testes, and related phenotypes are azoospermia and elevated circulating follicle stimulating hormone level

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 28: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligoasthenospermia or non-obstructive azoospermia.

Symptoms & Phenotypes for Spermatogenic Failure 28

Human phenotypes related to Spermatogenic Failure 28:

33
# Description HPO Frequency HPO Source Accession
1 azoospermia 33 HP:0000027
2 elevated circulating follicle stimulating hormone level 33 HP:0008232
3 elevated circulating luteinizing hormone level 33 HP:0011969

Symptoms via clinical synopsis from OMIM:

58
Genitourinary External Genitalia Male:
small testes

Genitourinary Internal Genitalia Male:
azoospermia, nonobstructive
oligoasthenospermia (in some patients)
sertoli cell-only syndrome

Endocrine Features:
low testosterone
elevated follicle-stimulating hormone (fsh)
elevated luteinizing hormone (lh)

Clinical features from OMIM:

618086

Drugs & Therapeutics for Spermatogenic Failure 28

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 28

Genetic Tests for Spermatogenic Failure 28

Anatomical Context for Spermatogenic Failure 28

MalaCards organs/tissues related to Spermatogenic Failure 28:

42
Testes

Publications for Spermatogenic Failure 28

Articles related to Spermatogenic Failure 28:

# Title Authors Year
1
Correction: A homozygous FANCM frameshift pathogenic variant causes male infertility. ( 30158692 )
2019
2
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. ( 30075111 )
2018
3
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. ( 29231814 )
2017

Variations for Spermatogenic Failure 28

ClinVar genetic disease variations for Spermatogenic Failure 28:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCM NM_020937.3(FANCM): c.1491dupA (p.Gln498Thrfs) duplication Likely pathogenic rs797045116 GRCh38 Chromosome 14, 45159190: 45159190
2 FANCM NM_020937.3(FANCM): c.1491dupA (p.Gln498Thrfs) duplication Likely pathogenic rs797045116 GRCh37 Chromosome 14, 45628393: 45628393
3 FANCM NM_020937.3(FANCM): c.1741C> T (p.Arg581Cys) single nucleotide variant Uncertain significance rs202171930 GRCh38 Chromosome 14, 45164518: 45164518
4 FANCM NM_020937.3(FANCM): c.1741C> T (p.Arg581Cys) single nucleotide variant Uncertain significance rs202171930 GRCh37 Chromosome 14, 45633721: 45633721
5 FANCM NM_020937.3(FANCM): c.4366C> T (p.Arg1456Cys) single nucleotide variant Uncertain significance rs200360968 GRCh37 Chromosome 14, 45650888: 45650888
6 FANCM NM_020937.3(FANCM): c.4366C> T (p.Arg1456Cys) single nucleotide variant Uncertain significance rs200360968 GRCh38 Chromosome 14, 45181685: 45181685
7 FANCM NM_020937.3(FANCM): c.2859A> C (p.Lys953Asn) single nucleotide variant Uncertain significance rs142864437 GRCh38 Chromosome 14, 45175613: 45175613
8 FANCM NM_020937.3(FANCM): c.2859A> C (p.Lys953Asn) single nucleotide variant Uncertain significance rs142864437 GRCh37 Chromosome 14, 45644816: 45644816
9 FANCM NM_020937.2(FANCM): c.1576C> G (p.Leu526Val) single nucleotide variant Uncertain significance rs144215747 GRCh38 Chromosome 14, 45159275: 45159275
10 FANCM NM_020937.2(FANCM): c.1576C> G (p.Leu526Val) single nucleotide variant Uncertain significance rs144215747 GRCh37 Chromosome 14, 45628478: 45628478
11 FANCM NM_020937.3(FANCM): c.2497G> A (p.Asp833Asn) single nucleotide variant Uncertain significance rs752560995 GRCh37 Chromosome 14, 45644454: 45644454
12 FANCM NM_020937.3(FANCM): c.2497G> A (p.Asp833Asn) single nucleotide variant Uncertain significance rs752560995 GRCh38 Chromosome 14, 45175251: 45175251
13 FANCM NM_020937.3(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs147021911 GRCh37 Chromosome 14, 45658326: 45658326
14 FANCM NM_020937.3(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs147021911 GRCh38 Chromosome 14, 45189123: 45189123
15 FANCM NM_020937.3(FANCM): c.5569G> A (p.Val1857Met) single nucleotide variant Uncertain significance rs144008013 GRCh37 Chromosome 14, 45665603: 45665603
16 FANCM NM_020937.3(FANCM): c.5569G> A (p.Val1857Met) single nucleotide variant Uncertain significance rs144008013 GRCh38 Chromosome 14, 45196400: 45196400
17 FANCM NM_020937.2(FANCM): c.3992C> T (p.Pro1331Leu) single nucleotide variant Uncertain significance rs149348098 GRCh37 Chromosome 14, 45645949: 45645949
18 FANCM NM_020937.2(FANCM): c.3992C> T (p.Pro1331Leu) single nucleotide variant Uncertain significance rs149348098 GRCh38 Chromosome 14, 45176746: 45176746
19 FANCM NM_020937.3(FANCM): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs146609069 GRCh37 Chromosome 14, 45605287: 45605287
20 FANCM NM_020937.3(FANCM): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs146609069 GRCh38 Chromosome 14, 45136084: 45136084
21 FANCM NM_020937.3(FANCM): c.1192C> T (p.Arg398Trp) single nucleotide variant Uncertain significance rs752364451 GRCh37 Chromosome 14, 45623908: 45623908
22 FANCM NM_020937.3(FANCM): c.1192C> T (p.Arg398Trp) single nucleotide variant Uncertain significance rs752364451 GRCh38 Chromosome 14, 45154705: 45154705
23 FANCM NM_020937.3(FANCM): c.5791C> T (p.Arg1931Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs144567652 GRCh37 Chromosome 14, 45667921: 45667921
24 FANCM NM_020937.3(FANCM): c.5791C> T (p.Arg1931Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs144567652 GRCh38 Chromosome 14, 45198718: 45198718
25 FANCM NM_020937.3(FANCM): c.4387-10A> G single nucleotide variant Pathogenic rs1555365959 GRCh37 Chromosome 14, 45652967: 45652967
26 FANCM NM_020937.3(FANCM): c.4387-10A> G single nucleotide variant Pathogenic rs1555365959 GRCh38 Chromosome 14, 45183764: 45183764
27 FANCM NM_020937.3(FANCM): c.1946_1958del (p.Pro649Leufs) deletion Pathogenic rs1555363275 GRCh37 Chromosome 14, 45636310: 45636322
28 FANCM NM_020937.3(FANCM): c.1946_1958del (p.Pro649Leufs) deletion Pathogenic rs1555363275 GRCh38 Chromosome 14, 45167107: 45167119
29 FANCM NM_020937.3(FANCM): c.1237T> C (p.Tyr413His) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 45623953: 45623953
30 FANCM NM_020937.3(FANCM): c.1237T> C (p.Tyr413His) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 45154750: 45154750

Expression for Spermatogenic Failure 28

Search GEO for disease gene expression data for Spermatogenic Failure 28.

Pathways for Spermatogenic Failure 28

GO Terms for Spermatogenic Failure 28

Sources for Spermatogenic Failure 28

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
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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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