MCID: SPR133
MIFTS: 15

Spermatogenic Failure 30

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 30

MalaCards integrated aliases for Spermatogenic Failure 30:

Name: Spermatogenic Failure 30 57 6
Spgf30 57

Characteristics:

OMIM:

57
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 57 618110
SNOMED-CT via HPO 69 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 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

Symptoms & Phenotypes for Spermatogenic Failure 30

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spermatogenic Failure 30:

32
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 cryptozoospermia 32 HP:0030974

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 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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