SPGF37
MCID: SPR142
MIFTS: 19

Spermatogenic Failure 37 (SPGF37)

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

Aliases & Classifications for Spermatogenic Failure 37

MalaCards integrated aliases for Spermatogenic Failure 37:

Name: Spermatogenic Failure 37 57 12 72 29 6
Spgf37 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 37:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111927
OMIM® 57 618429
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 258211005

Summaries for Spermatogenic Failure 37

OMIM® : 57 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) (Updated 20-May-2021)

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).

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has material basis in homozygous or compound heterozygous mutation in TTC21A on chromosome 3p22.2.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 37: An autosomal recessive infertility disorder characterized by asthenoteratozoospermia. Spermatozoa exhibit multiple morphologic abnormalities, primarily consisting of short or absent flagella, and neck defects at the head-tail junction.

Related Diseases for Spermatogenic Failure 37

Symptoms & Phenotypes for Spermatogenic Failure 37

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
asthenoteratozoospermia
absent flagella
short flagella
coiled flagella
primary infertility
more

Clinical features from OMIM®:

618429 (Updated 20-May-2021)

Drugs & Therapeutics for Spermatogenic Failure 37

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 37

Genetic Tests for Spermatogenic Failure 37

Genetic tests related to Spermatogenic Failure 37:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 37 29 TTC21A

Anatomical Context for Spermatogenic Failure 37

Publications for Spermatogenic Failure 37

Articles related to Spermatogenic Failure 37:

# Title Authors PMID Year
1
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice. 57 6
30929735 2019

Variations for Spermatogenic Failure 37

ClinVar genetic disease variations for Spermatogenic Failure 37:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTC21A NM_001366900.1(TTC21A):c.716+1G>A SNV Pathogenic 627571 rs1559674534 GRCh37: 3:39156234-39156234
GRCh38: 3:39114743-39114743
2 TTC21A NM_001366900.1(TTC21A):c.2308C>T (p.Gln770Ter) SNV Pathogenic 627572 rs780431020 GRCh37: 3:39171838-39171838
GRCh38: 3:39130347-39130347
3 TTC21A NM_001366900.1(TTC21A):c.341A>G (p.Tyr114Cys) SNV Pathogenic 627573 rs750057655 GRCh37: 3:39152414-39152414
GRCh38: 3:39110923-39110923
4 TTC21A NM_001366900.1(TTC21A):c.2542del (p.Ala847_Val848insTer) Deletion Pathogenic 627574 rs1559708295 GRCh37: 3:39172566-39172566
GRCh38: 3:39131075-39131075
5 TTC21A NM_001366900.1(TTC21A):c.3095+5G>T SNV Pathogenic 627575 rs148431487 GRCh37: 3:39178003-39178003
GRCh38: 3:39136512-39136512

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 37:

72
# Symbol AA change Variation ID SNP ID
1 TTC21A p.Tyr114Cys VAR_082207 rs750057655

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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