SPGF12
MCID: SPR087
MIFTS: 19

Spermatogenic Failure 12 (SPGF12)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 12

MalaCards integrated aliases for Spermatogenic Failure 12:

Name: Spermatogenic Failure 12 57 12 72 29 6 70
Spgf12 57 12 72
Spermatogenic Failure, Type 12 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
spermatogenic failure 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070171
OMIM® 57 615413
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
UMLS 70 C3809427

Summaries for Spermatogenic Failure 12

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 12: An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Non-obstructive azoospermia, oligozoospermia and oligo-astheno-teratozoospermia are features observed in SPGF12 patients.

MalaCards based summary : Spermatogenic Failure 12, is also known as spgf12. An important gene associated with Spermatogenic Failure 12 is NANOS1 (Nanos C2HC-Type Zinc Finger 1). Affiliated tissues include testes, and related phenotypes are azoospermia and infertility

Disease Ontology : 12 A male infertility characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has material basis in heterozygous mutation in the NANOS1 gene on chromosome 10q26.

More information from OMIM: 615413 PS258150

Related Diseases for Spermatogenic Failure 12

Symptoms & Phenotypes for Spermatogenic Failure 12

Human phenotypes related to Spermatogenic Failure 12:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 infertility 31 HP:0000789
3 abnormal male germ cell morphology 31 HP:0012863

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
infertility
sertoli cell-only seminiferous tubule histology
oligoasthenoteratozoospermia (noted in 1 patient)

Clinical features from OMIM®:

615413 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 12

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 12

Genetic Tests for Spermatogenic Failure 12

Genetic tests related to Spermatogenic Failure 12:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 12 29 NANOS1

Anatomical Context for Spermatogenic Failure 12

MalaCards organs/tissues related to Spermatogenic Failure 12:

40
Testes

Publications for Spermatogenic Failure 12

Articles related to Spermatogenic Failure 12:

# Title Authors PMID Year
1
Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia. 57 6
23315541 2013

Variations for Spermatogenic Failure 12

ClinVar genetic disease variations for Spermatogenic Failure 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NANOS1 NM_199461.4(NANOS1):c.502_504GCC[5] (p.Ala173del) Microsatellite Pathogenic 65391 rs538539239 GRCh37: 10:120789813-120789815
GRCh38: 10:119030301-119030303
2 NANOS1 NM_199461.4(NANOS1):c.737G>A (p.Arg246His) SNV Pathogenic 65392 rs587777767 GRCh37: 10:120790050-120790050
GRCh38: 10:119030538-119030538
3 NANOS1 NM_199461.4(NANOS1):c.231_233CTC[3] (p.Ser83del) Microsatellite Conflicting interpretations of pathogenicity 65390 rs587777031 GRCh37: 10:120789543-120789545
GRCh38: 10:119030031-119030033

Expression for Spermatogenic Failure 12

Search GEO for disease gene expression data for Spermatogenic Failure 12.

Pathways for Spermatogenic Failure 12

GO Terms for Spermatogenic Failure 12

Sources for Spermatogenic Failure 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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