SPGF8
MCID: SPR042
MIFTS: 18

Spermatogenic Failure 8 (SPGF8)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 8

MalaCards integrated aliases for Spermatogenic Failure 8:

Name: Spermatogenic Failure 8 58 12 76 30 13 6 74
Spgf8 58 12 76
Spermatogenic Failure, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
spermatogenic failure 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070169
OMIM 58 613957
MeSH 45 D007248
MedGen 43 C3151406
SNOMED-CT via HPO 70 258211005 425558002 48188009
UMLS 74 C3151406

Summaries for Spermatogenic Failure 8

Disease Ontology : 12 A male infertility characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has material basis in heterozygous mutation in the NR5A1 gene on chromosome 9q33.

MalaCards based summary : Spermatogenic Failure 8, is also known as spgf8. An important gene associated with Spermatogenic Failure 8 is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). Related phenotypes are azoospermia and cryptozoospermia

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 8: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.

Description from OMIM: 613957

Symptoms & Phenotypes for Spermatogenic Failure 8

Human phenotypes related to Spermatogenic Failure 8:

33
# Description HPO Frequency HPO Source Accession
1 azoospermia 33 HP:0000027
2 cryptozoospermia 33 HP:0030974

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
azoospermia
cryptozoospermia
severe oligospermia
moderate oligospermia (rare)
sperm counts less than 1 x 10(6) per ml (in most patients)

Clinical features from OMIM:

613957

Drugs & Therapeutics for Spermatogenic Failure 8

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 8

Genetic Tests for Spermatogenic Failure 8

Genetic tests related to Spermatogenic Failure 8:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 8 30 NR5A1

Anatomical Context for Spermatogenic Failure 8

Publications for Spermatogenic Failure 8

Articles related to Spermatogenic Failure 8:

# Title Authors Year
1
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. ( 20887963 )
2010
2
Mutations in NR5A1 associated with ovarian insufficiency. ( 19246354 )
2009

Variations for Spermatogenic Failure 8

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 8:

76
# Symbol AA change Variation ID SNP ID
1 NR5A1 p.Gly123Ala VAR_062967 rs200163795
2 NR5A1 p.Pro129Leu VAR_062968 rs200749741
3 NR5A1 p.Pro131Leu VAR_065866 rs387906690
4 NR5A1 p.Arg191Cys VAR_065867 rs125332410
5 NR5A1 p.Gly212Ser VAR_065868 rs201095702
6 NR5A1 p.Asp238Asn VAR_065869 rs780568525

ClinVar genetic disease variations for Spermatogenic Failure 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NR5A1 NM_004959.4(NR5A1): c.368G> C (p.Gly123Ala) single nucleotide variant no interpretation for the single variant rs200163795 GRCh37 Chromosome 9, 127262871: 127262871
2 NR5A1 NM_004959.4(NR5A1): c.368G> C (p.Gly123Ala) single nucleotide variant no interpretation for the single variant rs200163795 GRCh38 Chromosome 9, 124500592: 124500592
3 NR5A1 NM_004959.4(NR5A1): c.386C> T (p.Pro129Leu) single nucleotide variant no interpretation for the single variant rs200749741 GRCh37 Chromosome 9, 127262853: 127262853
4 NR5A1 NM_004959.4(NR5A1): c.386C> T (p.Pro129Leu) single nucleotide variant no interpretation for the single variant rs200749741 GRCh38 Chromosome 9, 124500574: 124500574
5 NR5A1 NM_004959.4(NR5A1): c.392C> T (p.Pro131Leu) single nucleotide variant Pathogenic rs387906690 GRCh37 Chromosome 9, 127262847: 127262847
6 NR5A1 NM_004959.4(NR5A1): c.392C> T (p.Pro131Leu) single nucleotide variant Pathogenic rs387906690 GRCh38 Chromosome 9, 124500568: 124500568
7 NR5A1 NM_004959.4(NR5A1): c.634G> A (p.Gly212Ser) single nucleotide variant Pathogenic rs201095702 GRCh37 Chromosome 9, 127262605: 127262605
8 NR5A1 NM_004959.4(NR5A1): c.634G> A (p.Gly212Ser) single nucleotide variant Pathogenic rs201095702 GRCh38 Chromosome 9, 124500326: 124500326

Expression for Spermatogenic Failure 8

Search GEO for disease gene expression data for Spermatogenic Failure 8.

Pathways for Spermatogenic Failure 8

GO Terms for Spermatogenic Failure 8

Sources for Spermatogenic Failure 8

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
56 Novoseek
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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