MCID: SPR135
MIFTS: 15

Spermatogenic Failure 32

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 32

MalaCards integrated aliases for Spermatogenic Failure 32:

Name: Spermatogenic Failure 32 57 6
Spgf32 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 57 618115

Summaries for Spermatogenic Failure 32

OMIM : 57 Spermatogenic failure-32 is characterized by male infertility due to nonobstructive azoospermia. Testicular biopsy has shown absence of spermatogenic cells and a Sertoli cell-only pattern (Choi et al., 2010). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150. (618115)

MalaCards based summary : Spermatogenic Failure 32, is also known as spgf32. An important gene associated with Spermatogenic Failure 32 is SOHLH1 (Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1). Related phenotypes are azoospermia and infertility

Symptoms & Phenotypes for Spermatogenic Failure 32

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
infertility
nonobstructive azoospermia
no spermatogenic cells seen on testicular biopsy
sertoli cell-only pattern seen on testicular biopsy


Clinical features from OMIM:

618115

Human phenotypes related to Spermatogenic Failure 32:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 infertility 32 HP:0000789

Drugs & Therapeutics for Spermatogenic Failure 32

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 32

Genetic Tests for Spermatogenic Failure 32

Anatomical Context for Spermatogenic Failure 32

Publications for Spermatogenic Failure 32

Variations for Spermatogenic Failure 32

ClinVar genetic disease variations for Spermatogenic Failure 32:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOHLH1 NM_001012415.2(SOHLH1): c.346-1G> A single nucleotide variant Pathogenic rs140132974 GRCh37 Chromosome 9, 138589474: 138589474
2 SOHLH1 NM_001012415.2(SOHLH1): c.346-1G> A single nucleotide variant Pathogenic rs140132974 GRCh38 Chromosome 9, 135697628: 135697628

Expression for Spermatogenic Failure 32

Search GEO for disease gene expression data for Spermatogenic Failure 32.

Pathways for Spermatogenic Failure 32

GO Terms for Spermatogenic Failure 32

Sources for Spermatogenic Failure 32

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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