MCID: SPR042
MIFTS: 16

Spermatogenic Failure 8

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 8

MalaCards integrated aliases for Spermatogenic Failure 8:

Name: Spermatogenic Failure 8 57 75 29 13 6 73
Spgf8 57 75
Spermatogenic Failure, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spermatogenic failure 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613957
MedGen 42 C3151406
MeSH 44 D007248
SNOMED-CT via HPO 69 258211005 425558002 48188009
UMLS 73 C3151406

Summaries for Spermatogenic Failure 8

UniProtKB/Swiss-Prot : 75 Spermatogenic failure 8: An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.

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

Description from OMIM: 613957

Symptoms & Phenotypes for Spermatogenic Failure 8

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Spermatogenic Failure 8:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 cryptozoospermia 32 HP:0030974

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 29 NR5A1

Anatomical Context for Spermatogenic Failure 8

Publications for Spermatogenic Failure 8

Variations for Spermatogenic Failure 8

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

75
# 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
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.392C> T (p.Pro131Leu) single nucleotide variant Pathogenic rs387906690 GRCh37 Chromosome 9, 127262847: 127262847
2 NR5A1 NM_004959.4(NR5A1): c.392C> T (p.Pro131Leu) single nucleotide variant Pathogenic rs387906690 GRCh38 Chromosome 9, 124500568: 124500568
3 NR5A1 NM_004959.4(NR5A1): c.634G> A (p.Gly212Ser) single nucleotide variant Pathogenic rs201095702 GRCh37 Chromosome 9, 127262605: 127262605
4 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 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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