SPGF37
MCID: SPR142
MIFTS: 14

Spermatogenic Failure 37 (SPGF37)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 37

MalaCards integrated aliases for Spermatogenic Failure 37:

Name: Spermatogenic Failure 37 58 6
Spgf37 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 58 618429

Summaries for Spermatogenic Failure 37

OMIM : 58 Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen (Liu et al., 2019). For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618429)

MalaCards based summary : Spermatogenic Failure 37, is also known as spgf37. An important gene associated with Spermatogenic Failure 37 is TTC21A (Tetratricopeptide Repeat Domain 21A).

Symptoms & Phenotypes for Spermatogenic Failure 37

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
asthenoteratozoospermia
primary infertility
absent flagella
short flagella
coiled flagella
more

Clinical features from OMIM:

618429

Drugs & Therapeutics for Spermatogenic Failure 37

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 37

Genetic Tests for Spermatogenic Failure 37

Anatomical Context for Spermatogenic Failure 37

Publications for Spermatogenic Failure 37

Variations for Spermatogenic Failure 37

ClinVar genetic disease variations for Spermatogenic Failure 37:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TTC21A NM_145755.2(TTC21A): c.716+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 3, 39156234: 39156234
2 TTC21A NM_145755.2(TTC21A): c.716+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 3, 39114743: 39114743
3 TTC21A NM_145755.2(TTC21A): c.2329C> T (p.Gln777Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 39130347: 39130347
4 TTC21A NM_145755.2(TTC21A): c.2329C> T (p.Gln777Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 39171838: 39171838
5 TTC21A NM_145755.2(TTC21A): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 39110923: 39110923
6 TTC21A NM_145755.2(TTC21A): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 39152414: 39152414
7 TTC21A NM_145755.2(TTC21A): c.2563delG (p.Val855Terfs) deletion Pathogenic GRCh38 Chromosome 3, 39131075: 39131075
8 TTC21A NM_145755.2(TTC21A): c.2563delG (p.Val855Terfs) deletion Pathogenic GRCh37 Chromosome 3, 39172566: 39172566
9 TTC21A NM_145755.2(TTC21A): c.3116+5G> T single nucleotide variant Pathogenic GRCh37 Chromosome 3, 39178003: 39178003
10 TTC21A NM_145755.2(TTC21A): c.3116+5G> T single nucleotide variant Pathogenic GRCh38 Chromosome 3, 39136512: 39136512

Expression for Spermatogenic Failure 37

Search GEO for disease gene expression data for Spermatogenic Failure 37.

Pathways for Spermatogenic Failure 37

GO Terms for Spermatogenic Failure 37

Sources for Spermatogenic Failure 37

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
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