MCID: SPR087
MIFTS: 17

Spermatogenic Failure 12

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 12

MalaCards integrated aliases for Spermatogenic Failure 12:

Name: Spermatogenic Failure 12 57 75 29 6 73
Spgf12 57 75
Spermatogenic Failure, Type 12 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
spermatogenic failure 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615413
MeSH 44 D007248
UMLS 73 C3809427

Summaries for Spermatogenic Failure 12

UniProtKB/Swiss-Prot : 75 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). Related phenotypes are azoospermia and infertility

Description from OMIM: 615413

Symptoms & Phenotypes for Spermatogenic Failure 12

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
infertility
azoospermia
sertoli cell-only seminiferous tubule histology
oligoasthenoteratozoospermia (noted in 1 patient)


Clinical features from OMIM:

615413

Human phenotypes related to Spermatogenic Failure 12:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 infertility 32 HP:0000789
3 abnormal male germ cell morphology 32 HP:0012863

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

Publications for Spermatogenic Failure 12

Variations for Spermatogenic Failure 12

ClinVar genetic disease variations for Spermatogenic Failure 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NANOS1 NM_199461.3(NANOS1): c.240_242delCTC (p.Ser83del) deletion Pathogenic rs587777031 GRCh37 Chromosome 10, 120789553: 120789555
2 NANOS1 NM_199461.3(NANOS1): c.240_242delCTC (p.Ser83del) deletion Pathogenic rs587777031 GRCh38 Chromosome 10, 119030041: 119030043
3 NANOS1 NM_199461.3(NANOS1): c.517_519delGCC (p.Ala173del) deletion Pathogenic rs587777032 GRCh37 Chromosome 10, 120789830: 120789832
4 NANOS1 NM_199461.3(NANOS1): c.517_519delGCC (p.Ala173del) deletion Pathogenic rs587777032 GRCh38 Chromosome 10, 119030318: 119030320

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 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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