SPGF30
MCID: SPR133
MIFTS: 16

Spermatogenic Failure 30 (SPGF30)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 30

MalaCards integrated aliases for Spermatogenic Failure 30:

Name: Spermatogenic Failure 30 58 76 6
Spgf30 58 76

Characteristics:

OMIM:

58
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


Classifications:



External Ids:

OMIM 58 618110
MeSH 45 D007248
MedGen 43 CN253819
SNOMED-CT via HPO 70 425558002 48188009

Summaries for Spermatogenic Failure 30

OMIM : 58 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 phenotypic and genetic heterogeneity of spermatogenic failure, see 258150. (618110)

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

UniProtKB/Swiss-Prot : 76 Spermatogenic failure 30: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or cryptozoospermia.

Symptoms & Phenotypes for Spermatogenic Failure 30

Human phenotypes related to Spermatogenic Failure 30:

33
# Description HPO Frequency HPO Source Accession
1 azoospermia 33 HP:0000027
2 cryptozoospermia 33 HP:0030974

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Spermatogenic Failure 30

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 30

Genetic Tests for Spermatogenic Failure 30

Anatomical Context for Spermatogenic Failure 30

Publications for Spermatogenic Failure 30

Variations for Spermatogenic Failure 30

ClinVar genetic disease variations for Spermatogenic Failure 30:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TDRD9 NM_153046.2(TDRD9): c.720_723del (p.Ser241Profs) deletion Pathogenic GRCh38 Chromosome 14, 103966786: 103966789
2 TDRD9 NM_153046.2(TDRD9): c.720_723del (p.Ser241Profs) deletion Pathogenic GRCh37 Chromosome 14, 104433123: 104433126

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....