MCID: SPR118
MIFTS: 22

Spermatogenic Failure 1

Categories: Reproductive diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 1

MalaCards integrated aliases for Spermatogenic Failure 1:

Name: Spermatogenic Failure 1 57
Oligosynaptic Infertility 57 6 73
Oligochiasmatic Infertility 57
Spgf1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spermatogenic failure 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 258150
MedGen 42 C0403810
SNOMED-CT via HPO 69 258211005 15296000 8619003
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 6 and spermatogenic failure 5. An important gene associated with Spermatogenic Failure 1 is TEX15 (Testis Expressed 15, Meiosis And Synapsis Associated). Related phenotypes are infertility and abnormality of metabolism/homeostasis

Related Diseases for Spermatogenic Failure 1

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
GenitourinaryInternal GenitaliaMale:
infertility
oligozoospermia
azoospermia
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 infertility 32 HP:0000789
2 abnormality of metabolism/homeostasis 32 HP:0001939

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 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 TEX15 NM_001350162.1(TEX15): c.3279T> G (p.Tyr1093Ter) single nucleotide variant Pathogenic rs864309485 GRCh37 Chromosome 8, 30704404: 30704404
2 TEX15 NM_001350162.1(TEX15): c.3279T> G (p.Tyr1093Ter) single nucleotide variant Pathogenic rs864309485 GRCh38 Chromosome 8, 30846888: 30846888
3 NR5A1 NM_004959.4(NR5A1): c.375G> A (p.Pro125=) single nucleotide variant Benign rs1110062 GRCh38 Chromosome 9, 124500585: 124500585
4 NR5A1 NM_004959.4(NR5A1): c.375G> A (p.Pro125=) single nucleotide variant Benign rs1110062 GRCh37 Chromosome 9, 127262864: 127262864
5 ANK2 NM_001148.4(ANK2): c.7951G> C (p.Val2651Leu) single nucleotide variant Likely benign rs777477439 GRCh37 Chromosome 4, 114277725: 114277725
6 ANK2 NM_001148.4(ANK2): c.7951G> C (p.Val2651Leu) single nucleotide variant Likely benign rs777477439 GRCh38 Chromosome 4, 113356569: 113356569
7 PDHA2 NM_005390.4(PDHA2): c.679A> G (p.Met227Val) single nucleotide variant Pathogenic rs200969445 GRCh37 Chromosome 4, 96761980: 96761980
8 PDHA2 NM_005390.4(PDHA2): c.679A> G (p.Met227Val) single nucleotide variant Pathogenic rs200969445 GRCh38 Chromosome 4, 95840829: 95840829
9 NR5A1 NM_004959.4(NR5A1): c.236_238delGCC (p.Arg79del) deletion Uncertain significance GRCh38 Chromosome 9, 124503085: 124503087
10 NR5A1 NM_004959.4(NR5A1): c.236_238delGCC (p.Arg79del) deletion Uncertain significance GRCh37 Chromosome 9, 127265364: 127265366
11 NR5A1 NC_000009.12: g.(?_124482420)_(124482928_?)del deletion Likely pathogenic GRCh38 Chromosome 9, 124482420: 124482928
12 NR5A1 NC_000009.12: g.(?_124482420)_(124482928_?)del deletion Likely pathogenic GRCh37 Chromosome 9, 127244699: 127245207

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
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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