SPGF1
MCID: SPR118
MIFTS: 25

Spermatogenic Failure 1 (SPGF1)

Categories: 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
Oligosynaptic Infertility 57 12 6 73
Oligochiasmatic Infertility 57 12
Spgf1 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spermatogenic failure 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 258150
Disease Ontology 12 DOID:0070188
MedGen 42 C0403810
UMLS 73 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)

MalaCards based summary : Spermatogenic Failure 1, also known as oligosynaptic infertility, is related to spermatogenic failure, x-linked, 1 and spermatogenic failure, y-linked, 1. An important gene associated with Spermatogenic Failure 1 is PDHA2 (Pyruvate Dehydrogenase E1 Alpha 2 Subunit). Related phenotypes are abnormality of metabolism/homeostasis and azoospermia

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

Related Diseases for Spermatogenic Failure 1

Diseases in the Spermatogenic Failure 4 family:

Spermatogenic Failure 6 Spermatogenic Failure 2
Spermatogenic Failure 5 Spermatogenic Failure 1
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

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure, x-linked, 1 11.2
2 spermatogenic failure, y-linked, 1 11.2
3 spermatogenic failure 6 10.9
4 spermatogenic failure 5 10.9
5 spermatogenic failure 4 10.9
6 spermatogenic failure 3 10.9
7 spermatogenic failure 9 10.9
8 spermatogenic failure 10 10.9
9 spermatogenic failure 16 10.9
10 spermatogenic failure 18 10.9
11 spermatogenic failure 19 10.9
12 spermatogenic failure 20 10.9
13 spermatogenic failure 21 10.9
14 spermatogenic failure 24 10.9
15 spermatogenic failure 25 10.9
16 spermatogenic failure 26 10.9
17 spermatogenic failure 27 10.9
18 spermatogenic failure 28 10.9
19 spermatogenic failure 29 10.9
20 spermatogenic failure 33 10.9
21 spermatogenic failure 34 10.9
22 infertility 9.7 NR5A1 TEX15

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



Diseases related to Spermatogenic Failure 1

Symptoms & Phenotypes for Spermatogenic Failure 1

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
azoospermia
infertility
oligozoospermia
maturation arrest at primary spermatocyte (pachytene stage)
asynapsis
more

Clinical features from OMIM:

258150

Human phenotypes related to Spermatogenic Failure 1:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 azoospermia 32 HP:0000027
3 infertility 32 HP:0000789

Drugs & Therapeutics for Spermatogenic Failure 1

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 1

Genetic Tests for Spermatogenic Failure 1

Anatomical Context for Spermatogenic Failure 1

Publications for Spermatogenic Failure 1

Variations for Spermatogenic Failure 1

ClinVar genetic disease variations for Spermatogenic Failure 1:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR5A1 NM_004959.4(NR5A1): c.516C> T (p.Ala172=) single nucleotide variant Benign rs113506523 GRCh38 Chromosome 9, 124500444: 124500444
2 NR5A1 NM_004959.4(NR5A1): c.516C> T (p.Ala172=) single nucleotide variant Benign rs113506523 GRCh37 Chromosome 9, 127262723: 127262723
3 TEX15 NM_001350162.1(TEX15): c.3279T> G (p.Tyr1093Ter) single nucleotide variant Pathogenic rs864309485 GRCh37 Chromosome 8, 30704404: 30704404
4 TEX15 NM_001350162.1(TEX15): c.3279T> G (p.Tyr1093Ter) single nucleotide variant Pathogenic rs864309485 GRCh38 Chromosome 8, 30846888: 30846888
5 NR5A1 NM_004959.4(NR5A1): c.375G> A (p.Pro125=) single nucleotide variant Benign rs1110062 GRCh38 Chromosome 9, 124500585: 124500585
6 NR5A1 NM_004959.4(NR5A1): c.375G> A (p.Pro125=) single nucleotide variant Benign rs1110062 GRCh37 Chromosome 9, 127262864: 127262864
7 NR5A1 NM_004959.4(NR5A1): c.937C> T (p.Arg313Cys) single nucleotide variant Pathogenic/Likely pathogenic rs1057517779 GRCh37 Chromosome 9, 127255362: 127255362
8 NR5A1 NM_004959.4(NR5A1): c.937C> T (p.Arg313Cys) single nucleotide variant Pathogenic/Likely pathogenic rs1057517779 GRCh38 Chromosome 9, 124493083: 124493083
9 ANK2 NM_001148.4(ANK2): c.7951G> C (p.Val2651Leu) single nucleotide variant Likely benign rs777477439 GRCh37 Chromosome 4, 114277725: 114277725
10 ANK2 NM_001148.4(ANK2): c.7951G> C (p.Val2651Leu) single nucleotide variant Likely benign rs777477439 GRCh38 Chromosome 4, 113356569: 113356569
11 PDHA2 NM_005390.4(PDHA2): c.679A> G (p.Met227Val) single nucleotide variant Pathogenic rs200969445 GRCh37 Chromosome 4, 96761980: 96761980
12 PDHA2 NM_005390.4(PDHA2): c.679A> G (p.Met227Val) single nucleotide variant Pathogenic rs200969445 GRCh38 Chromosome 4, 95840829: 95840829
13 NR5A1 NM_004959.4(NR5A1): c.236_238delGCC (p.Arg79del) deletion Uncertain significance GRCh37 Chromosome 9, 127265364: 127265366
14 NR5A1 NM_004959.4(NR5A1): c.236_238delGCC (p.Arg79del) deletion Uncertain significance GRCh38 Chromosome 9, 124503085: 124503087
15 NR5A1 NC_000009.12: g.(?_124482420)_(124482928_?)del deletion Likely pathogenic GRCh37 Chromosome 9, 127244699: 127245207
16 NR5A1 NC_000009.12: g.(?_124482420)_(124482928_?)del deletion Likely pathogenic GRCh38 Chromosome 9, 124482420: 124482928
17 NR5A1 NM_004959.4(NR5A1): c.1227C> G (p.Tyr409Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 9, 127245196: 127245196
18 NR5A1 NM_004959.4(NR5A1): c.1227C> G (p.Tyr409Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 9, 124482917: 124482917
19 NR5A1 NM_004959.4(NR5A1): c.88T> C (p.Cys30Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 124503308: 124503308
20 NR5A1 NM_004959.4(NR5A1): c.88T> C (p.Cys30Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 127265587: 127265587

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

Sources for Spermatogenic Failure 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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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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