SPGF42
MCID: SPR152
MIFTS: 17

Spermatogenic Failure 42 (SPGF42)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 42

MalaCards integrated aliases for Spermatogenic Failure 42:

Name: Spermatogenic Failure 42 56 6
Spgf42 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 56 618745
OMIM Phenotypic Series 56 PS258150

Summaries for Spermatogenic Failure 42

OMIM : 56 Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece (Lores et al., 2019; Liu et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618745)

MalaCards based summary : Spermatogenic Failure 42, is also known as spgf42. An important gene associated with Spermatogenic Failure 42 is TTC29 (Tetratricopeptide Repeat Domain 29).

Symptoms & Phenotypes for Spermatogenic Failure 42

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
infertility
reduced sperm motility
coiled sperm flagella
tapered sperm head
bent sperm flagella
more

Clinical features from OMIM:

618745

Drugs & Therapeutics for Spermatogenic Failure 42

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 42

Genetic Tests for Spermatogenic Failure 42

Anatomical Context for Spermatogenic Failure 42

Publications for Spermatogenic Failure 42

Articles related to Spermatogenic Failure 42:

# Title Authors PMID Year
1
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility. 56 6
31735292 2019
2
Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice. 56 6
31735294 2019
3
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 56
30686508 2019

Variations for Spermatogenic Failure 42

ClinVar genetic disease variations for Spermatogenic Failure 42:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTC29 NM_031956.3(TTC29):c.*334G>ASNV Pathogenic 805956 4:147627976-147627976 4:146706824-146706824
2 TTC29 NM_031956.3(TTC29):c.330_334del (p.Glu111fs)deletion Pathogenic 805957 4:147830244-147830248 4:146909092-146909096
3 TTC29 NM_031956.3(TTC29):c.750C>A (p.Tyr250Ter)SNV Pathogenic 805958 4:147795917-147795917 4:146874765-146874765
4 TTC29 NM_031956.3(TTC29):c.1107C>G (p.Tyr369Ter)SNV Pathogenic 805959 4:147724832-147724832 4:146803680-146803680
5 TTC29 NM_031956.3(TTC29):c.412_425del (p.Asp138fs)deletion Pathogenic 805960 4:147824857-147824870 4:146903705-146903718
6 TTC29 NM_031956.3(TTC29):c.977+1G>TSNV Pathogenic 805961 4:147754957-147754957 4:146833805-146833805

Expression for Spermatogenic Failure 42

Search GEO for disease gene expression data for Spermatogenic Failure 42.

Pathways for Spermatogenic Failure 42

GO Terms for Spermatogenic Failure 42

Sources for Spermatogenic Failure 42

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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