SPGF30
MCID: SPR133
MIFTS: 18

Spermatogenic Failure 30 (SPGF30)

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

Aliases & Classifications for Spermatogenic Failure 30

MalaCards integrated aliases for Spermatogenic Failure 30:

Name: Spermatogenic Failure 30 57 12 72 29 6
Spgf30 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 5 infertile men from 1 family (last curated august 2018)
homozygous female in the family was unaffected


HPO:

31
spermatogenic failure 30:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111913
OMIM® 57 618110
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 258211005 425558002 48188009

Summaries for Spermatogenic Failure 30

OMIM® : 57 Spermatogenic failure-30 is characterized by male infertility due to nonobstructive azoospermia or cryptozoospermia. The few sperm that have been observed are immotile and have small heads. Testicular histology in azoospermic patients shows incomplete maturation arrest, with a Sertoli cell-only pattern in some areas (Arafat et al., 2017). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150. (618110) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure 30, is also known as spgf30. An important gene associated with Spermatogenic Failure 30 is TDRD9 (Tudor Domain Containing 9). Related phenotypes are azoospermia and cryptozoospermia

Disease Ontology : 12 A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has material basis in homozygous or compound heterozygous mutation in TDRD9 on chromosome 14q32.33.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 30: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or cryptozoospermia.

Related Diseases for Spermatogenic Failure 30

Symptoms & Phenotypes for Spermatogenic Failure 30

Human phenotypes related to Spermatogenic Failure 30:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 HP:0000027
2 cryptozoospermia 31 HP:0030974

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
azoospermia
immotile sperm
incomplete maturation arrest
spermatogonial cells on testicular histology
meiotic/postmeiotic cells on testicular histology
more

Clinical features from OMIM®:

618110 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure 30

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 30

Genetic Tests for Spermatogenic Failure 30

Genetic tests related to Spermatogenic Failure 30:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 30 29 TDRD9

Anatomical Context for Spermatogenic Failure 30

Publications for Spermatogenic Failure 30

Articles related to Spermatogenic Failure 30:

# Title Authors PMID Year
1
Mutation in TDRD9 causes non-obstructive azoospermia in infertile men. 57 6
28536242 2017

Variations for Spermatogenic Failure 30

ClinVar genetic disease variations for Spermatogenic Failure 30:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TDRD9 NM_153046.3(TDRD9):c.716_719TAGT[1] (p.Ser241fs) Microsatellite Pathogenic 560416 rs765353898 GRCh37: 14:104433119-104433122
GRCh38: 14:103966782-103966785
2 TDRD9 NM_153046.3(TDRD9):c.448G>A (p.Val150Met) SNV Uncertain significance 1027805 GRCh37: 14:104431697-104431697
GRCh38: 14:103965360-103965360
3 TDRD9 NM_153046.3(TDRD9):c.46A>C (p.Ile16Leu) SNV Uncertain significance 1027806 GRCh37: 14:104394892-104394892
GRCh38: 14:103928555-103928555

Expression for Spermatogenic Failure 30

Search GEO for disease gene expression data for Spermatogenic Failure 30.

Pathways for Spermatogenic Failure 30

GO Terms for Spermatogenic Failure 30

Sources for Spermatogenic Failure 30

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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