SPGF1
MCID: SPR118
MIFTS: 36

Spermatogenic Failure 1 (SPGF1)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 1

MalaCards integrated aliases for Spermatogenic Failure 1:

Name: Spermatogenic Failure 1 57 12 72 15
Oligosynaptic Infertility 57 12 72 29 6 70
Spgf1 57 12 72
Oligochiasmatic Infertility 57 12
Spermatogenic Failure, Type 1 39
Oligochiasmic Infertility 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070188
OMIM® 57 258150
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
MedGen 41 C0403810
UMLS 70 C0403810

Summaries for Spermatogenic Failure 1

OMIM® : 57 Spermatogenic arrest during meiosis is a cause of infertility. The histologic picture of meiotic arrest is rather constant. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n but are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules, degenerate, and are easily distinguishable from normal spermatocytes by their partially condensed chromosomes. Although the cause of infertility in patients with meiotic arrest often remains unidentified, this histologic picture can be observed in patients with nonidiopathic infertility as well, such as in the case of microdeletions of the Y chromosome, chromosomal abnormalities, and cryptorchidism, suggesting that different causal factors can result in the same effect (summary by Luetjens et al., 2004). (258150) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 1, also known as oligosynaptic infertility, is related to spermatogenic failure 50 and spermatogenic failure, y-linked, 1. An important gene associated with Spermatogenic Failure 1 is SYCP2 (Synaptonemal Complex Protein 2). Affiliated tissues include brain and spleen, and related phenotypes are azoospermia and infertility

Disease Ontology : 12 A male infertility characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 1: An infertility disorder characterized by azoospermia due to spermatogenic arrest during meiosis. Meiotic arrest is characterized by germ cells that enter meiosis and undergo the first chromosomal reduction from 4n to 2n, but that are then unable to proceed further. This results in tubules containing spermatocytes as the latest developmental stage of germ cells. Meiotically arrested spermatocytes accumulate in the tubules and degenerate. Both autosomal recessive and autosomal dominant inheritance have been reported.

Related Diseases for Spermatogenic Failure 1

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 5
Spermatogenic Failure 1 Spermatogenic Failure 4
Spermatogenic Failure 3 Spermatogenic Failure 7
Spermatogenic Failure 8 Spermatogenic Failure 9
Spermatogenic Failure 10 Spermatogenic Failure 11
Spermatogenic Failure 12 Spermatogenic Failure 13
Spermatogenic Failure 14 Spermatogenic Failure 15
Spermatogenic Failure 16 Spermatogenic Failure 17
Spermatogenic Failure 18 Spermatogenic Failure 19
Spermatogenic Failure 20 Spermatogenic Failure 21
Spermatogenic Failure 22 Spermatogenic Failure 23
Spermatogenic Failure 24 Spermatogenic Failure 25
Spermatogenic Failure 26 Spermatogenic Failure 27
Spermatogenic Failure 28 Spermatogenic Failure 29
Spermatogenic Failure 30 Spermatogenic Failure 31
Spermatogenic Failure 32 Spermatogenic Failure 33
Spermatogenic Failure 34 Spermatogenic Failure 35
Spermatogenic Failure 36 Spermatogenic Failure 37
Spermatogenic Failure 38 Spermatogenic Failure 39
Spermatogenic Failure 40 Spermatogenic Failure 41
Spermatogenic Failure 42 Spermatogenic Failure 43
Spermatogenic Failure 44 Spermatogenic Failure 45
Spermatogenic Failure 46 Spermatogenic Failure 47
Spermatogenic Failure 48 Spermatogenic Failure 49
Spermatogenic Failure 50 Spermatogenic Failure 51
Spermatogenic Failure 52 Spermatogenic Failure 53

Diseases related to Spermatogenic Failure 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 50 30.6 TEX15 NR5A1
2 spermatogenic failure, y-linked, 1 11.3
3 spermatogenic failure, x-linked, 1 11.2
4 spermatogenic failure 6 10.8
5 spermatogenic failure 5 10.8
6 spermatogenic failure 4 10.8
7 spermatogenic failure, x-linked, 3 10.8
8 spermatogenic failure 3 10.8
9 spermatogenic failure 9 10.8
10 spermatogenic failure 10 10.8
11 spermatogenic failure 16 10.8
12 spermatogenic failure 18 10.8
13 spermatogenic failure 19 10.8
14 spermatogenic failure 20 10.8
15 spermatogenic failure 21 10.8
16 spermatogenic failure 24 10.8
17 spermatogenic failure 25 10.8
18 spermatogenic failure 26 10.8
19 spermatogenic failure 27 10.8
20 spermatogenic failure 28 10.8
21 spermatogenic failure 29 10.8
22 spermatogenic failure 33 10.8
23 spermatogenic failure 34 10.8
24 spermatogenic failure 36 10.8
25 spermatogenic failure 37 10.8
26 spermatogenic failure 38 10.8
27 spermatogenic failure 39 10.8
28 spermatogenic failure 40 10.8
29 spermatogenic failure 41 10.8
30 spermatogenic failure 42 10.8
31 spermatogenic failure 43 10.8
32 spermatogenic failure 44 10.8
33 spermatogenic failure 45 10.8
34 spermatogenic failure 46 10.8
35 spermatogenic failure 51 10.8
36 spermatogenic failure 52 10.8
37 spermatogenic failure 53 10.8
38 male infertility with azoospermia or oligozoospermia due to single gene mutation 9.7 TEX15 NR5A1
39 spermatogenic failure 2 9.7 RPL8 RPL13A
40 male infertility 9.6 TEX15 SYCP2 NR5A1
41 infertility 9.3 TEX15 SYCP2 PDHA2 NR5A1

Graphical network of the top 20 diseases related to Spermatogenic Failure 1:



Diseases related to Spermatogenic Failure 1

Symptoms & Phenotypes for Spermatogenic Failure 1

Human phenotypes related to Spermatogenic Failure 1:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 infertility 31 HP:0000789
3 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
infertility
oligozoospermia
maturation arrest at primary spermatocyte (pachytene stage)
degeneration of germ cells
more

Clinical features from OMIM®:

258150 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 1

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 1

Genetic Tests for Spermatogenic Failure 1

Genetic tests related to Spermatogenic Failure 1:

# Genetic test Affiliating Genes
1 Oligosynaptic Infertility 29 SYCP2

Anatomical Context for Spermatogenic Failure 1

MalaCards organs/tissues related to Spermatogenic Failure 1:

40
Brain, Spleen

Publications for Spermatogenic Failure 1

Articles related to Spermatogenic Failure 1:

(show all 23)
# Title Authors PMID Year
1
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility. 57 6
31866047 2020
2
Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development. 6
30103258 2018
3
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations. 6
29935645 2018
4
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes. 6
29582157 2018
5
Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations. 6
30425642 2018
6
SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management. 6
28032338 2017
7
A novel C-terminal truncating NR5A1 mutation in dizygotic twins. 6
28326187 2017
8
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. 6
27899157 2016
9
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. 6
27169744 2016
10
Exome sequencing for the diagnosis of 46,XY disorders of sex development. 6
25383892 2015
11
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. 6
25122490 2014
12
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations. 6
22474171 2012
13
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 6
22907560 2012
14
The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. 6
23154282 2012
15
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. 6
22028768 2011
16
A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female. 6
19269353 2009
17
The biology of infertility: research advances and clinical challenges. 57
18989307 2008
18
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. 6
17694559 2008
19
Association of meiotic arrest with lack of BOULE protein expression in infertile men. 57
15070965 2004
20
Genetically determined asynapsis, spermatogenic degeneration, and infertility in men. 57
7446525 1980
21
The genetic control of meiosis. 57
797314 1976
22
Abnormal synaptonemal complex in an oligochiasmatic man with spermatogenic arrest. 57
4448692 1974
23
A gross reduction in chiasma formation during meiotic prophase and a defective DNA repair mechanism associated with a case of human male infertility. 57
5518568 1970

Variations for Spermatogenic Failure 1

ClinVar genetic disease variations for Spermatogenic Failure 1:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDHA2 NM_005390.5(PDHA2):c.679A>G (p.Met227Val) SNV Pathogenic 446251 rs200969445 GRCh37: 4:96761980-96761980
GRCh38: 4:95840829-95840829
2 SYCP2 NM_014258.4(SYCP2):c.3067_3071del (p.Lys1023fs) Deletion Pathogenic 633614 rs753462162 GRCh37: 20:58452519-58452523
GRCh38: 20:59877464-59877468
3 SYCP2 NM_014258.4(SYCP2):c.2793_2797del (p.Lys932fs) Deletion Pathogenic 633612 rs1600840291 GRCh37: 20:58455502-58455506
GRCh38: 20:59880447-59880451
4 SYCP2 NM_014258.4(SYCP2):c.2018_2021AGAA[1] (p.Lys674fs) Microsatellite Pathogenic 633613 rs1600877766 GRCh37: 20:58467384-58467387
GRCh38: 20:59892329-59892332
5 NR5A1 NC_000009.12:g.(?_124481358)_(124505411_?)del Deletion Pathogenic 833100 GRCh37: 9:127243637-127267690
GRCh38:
6 NR5A1 NM_004959.5(NR5A1):c.129_131CAA[1] (p.Asn44del) Microsatellite Pathogenic 851632 GRCh37: 9:127265468-127265470
GRCh38: 9:124503189-124503191
7 NR5A1 NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter) SNV Pathogenic 958902 GRCh37: 9:127262905-127262905
GRCh38: 9:124500626-124500626
8 TEX15 NM_001350162.2(TEX15):c.3279T>G (p.Tyr1093Ter) SNV Pathogenic 190036 rs864309485 GRCh37: 8:30704404-30704404
GRCh38: 8:30846888-30846888
9 NR5A1 NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) SNV Pathogenic 372437 rs1057517779 GRCh37: 9:127255362-127255362
GRCh38: 9:124493083-124493083
10 NR5A1 NM_004959.5(NR5A1):c.982G>A (p.Gly328Arg) SNV Likely pathogenic 958009 GRCh37: 9:127255317-127255317
GRCh38: 9:124493038-124493038
11 NR5A1 NC_000009.12:g.(?_124482420)_(124482928_?)del Deletion Likely pathogenic 538430 GRCh37: 9:127244699-127245207
GRCh38: 9:124482420-124482928
12 NR5A1 NM_004959.5(NR5A1):c.1227C>G (p.Tyr409Ter) SNV Likely pathogenic 583141 rs1564146922 GRCh37: 9:127245196-127245196
GRCh38: 9:124482917-124482917
13 NR5A1 NM_004959.5(NR5A1):c.251G>A (p.Arg84His) SNV Likely pathogenic 641278 rs375469069 GRCh37: 9:127262988-127262988
GRCh38: 9:124500709-124500709
14 NR5A1 NM_004959.5(NR5A1):c.942G>C (p.Gln314His) SNV Uncertain significance 641462 rs201103618 GRCh37: 9:127255357-127255357
GRCh38: 9:124493078-124493078
15 NR5A1 NM_004959.5(NR5A1):c.460G>A (p.Ala154Thr) SNV Uncertain significance 656582 rs761496130 GRCh37: 9:127262779-127262779
GRCh38: 9:124500500-124500500
16 NR5A1 NM_004959.5(NR5A1):c.236_238del (p.Arg79del) Deletion Uncertain significance 471062 rs1554721859 GRCh37: 9:127265364-127265366
GRCh38: 9:124503085-124503087
17 NR5A1 NM_004959.5(NR5A1):c.1138+5G>A SNV Uncertain significance 941517 GRCh37: 9:127253355-127253355
GRCh38: 9:124491076-124491076
18 NR5A1 NM_004959.5(NR5A1):c.88T>C (p.Cys30Arg) SNV Uncertain significance 570773 rs1564153753 GRCh37: 9:127265587-127265587
GRCh38: 9:124503308-124503308
19 NR5A1 NM_004959.5(NR5A1):c.1307A>G (p.Tyr436Cys) SNV Uncertain significance 846546 GRCh37: 9:127245116-127245116
GRCh38: 9:124482837-124482837
20 NR5A1 NM_004959.5(NR5A1):c.219C>G (p.Cys73Trp) SNV Uncertain significance 935575 GRCh37: 9:127265383-127265383
GRCh38: 9:124503104-124503104
21 NR5A1 NM_004959.5(NR5A1):c.428G>C (p.Ser143Thr) SNV Uncertain significance 1009399 GRCh37: 9:127262811-127262811
GRCh38: 9:124500532-124500532
22 NR5A1 NM_004959.5(NR5A1):c.400C>T (p.Pro134Ser) SNV Uncertain significance 1016720 GRCh37: 9:127262839-127262839
GRCh38: 9:124500560-124500560
23 ANK2 NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu) SNV Likely benign 430720 rs777477439 GRCh37: 4:114277725-114277725
GRCh38: 4:113356569-113356569
24 NR5A1 NM_004959.5(NR5A1):c.633C>T (p.Tyr211=) SNV Likely benign 704615 rs374363746 GRCh37: 9:127262606-127262606
GRCh38: 9:124500327-124500327
25 NR5A1 NM_004959.5(NR5A1):c.516C>T (p.Ala172=) SNV Benign 138537 rs113506523 GRCh37: 9:127262723-127262723
GRCh38: 9:124500444-124500444
26 NR5A1 NM_004959.5(NR5A1):c.375G>A (p.Pro125=) SNV Benign 259590 rs1110062 GRCh37: 9:127262864-127262864
GRCh38: 9:124500585-124500585
27 NR5A1 NM_004959.5(NR5A1):c.1353G>A (p.Leu451=) SNV Benign 702077 rs79833327 GRCh37: 9:127245070-127245070
GRCh38: 9:124482791-124482791
28 NR5A1 NM_004959.5(NR5A1):c.594G>A (p.Pro198=) SNV Benign 506302 rs142414614 GRCh37: 9:127262645-127262645
GRCh38: 9:124500366-124500366

Expression for Spermatogenic Failure 1

Search GEO for disease gene expression data for Spermatogenic Failure 1.

Pathways for Spermatogenic Failure 1

GO Terms for Spermatogenic Failure 1

Cellular components related to Spermatogenic Failure 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosolic large ribosomal subunit GO:0022625 8.96 RPL8 RPL13A
2 large ribosomal subunit GO:0015934 8.62 RPL8 RPL13A

Biological processes related to Spermatogenic Failure 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translational initiation GO:0006413 9.37 RPL8 RPL13A
2 meiotic cell cycle GO:0051321 9.32 TEX15 SYCP2
3 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.26 RPL8 RPL13A
4 viral transcription GO:0019083 9.16 RPL8 RPL13A
5 SRP-dependent cotranslational protein targeting to membrane GO:0006614 8.96 RPL8 RPL13A
6 male meiotic nuclear division GO:0007140 8.62 TEX15 SYCP2

Molecular functions related to Spermatogenic Failure 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of ribosome GO:0003735 8.62 RPL8 RPL13A

Sources for Spermatogenic Failure 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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