SPGF42
MCID: SPR152
MIFTS: 20

Spermatogenic Failure 42 (SPGF42)

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

Aliases & Classifications for Spermatogenic Failure 42

MalaCards integrated aliases for Spermatogenic Failure 42:

Name: Spermatogenic Failure 42 57 12 72 6
Spgf42 57 12 72

Characteristics:

OMIM®:

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


HPO:

31
spermatogenic failure 42:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111923
OMIM® 57 618745
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 42

OMIM® : 57 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) (Updated 20-May-2021)

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). Related phenotypes are male infertility and reduced sperm motility

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has material basis in homozygous or compound heterozygous mutation in TTC29 on chromosome 4q31.22.

UniProtKB/Swiss-Prot : 72 Spermatogenic failure 42: An autosomal recessive infertility disorder characterized by almost immotile spermatozoa due to multiple morphologic abnormalities of the flagella, including short, absent, coiled, and bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece.

Related Diseases for Spermatogenic Failure 42

Symptoms & Phenotypes for Spermatogenic Failure 42

Human phenotypes related to Spermatogenic Failure 42:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 reduced sperm motility 31 very rare (1%) HP:0012207
3 absent sperm flagella 31 HP:0032558
4 short sperm flagella 31 HP:0032559
5 coiled sperm flagella 31 HP:0032560
6 microcephalic sperm head 31 HP:0032561
7 tapered sperm head 31 HP:0032562

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Male:
infertility
reduced sperm motility
coiled sperm flagella
tapered sperm head
bent sperm flagella
more

Clinical features from OMIM®:

618745 (Updated 20-May-2021)

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
Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice. 6 57
31735294 2019
2
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility. 57 6
31735292 2019
3
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 57
30686508 2019

Variations for Spermatogenic Failure 42

ClinVar genetic disease variations for Spermatogenic Failure 42:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTC29 NM_031956.3(TTC29):c.*334G>A SNV Pathogenic 805956 rs1579486914 GRCh37: 4:147627976-147627976
GRCh38: 4:146706824-146706824
2 TTC29 NM_031956.3(TTC29):c.330_334del (p.Glu111fs) Deletion Pathogenic 805957 rs766352190 GRCh37: 4:147830244-147830248
GRCh38: 4:146909092-146909096
3 TTC29 NM_031956.3(TTC29):c.750C>A (p.Tyr250Ter) SNV Pathogenic 805958 rs763399136 GRCh37: 4:147795917-147795917
GRCh38: 4:146874765-146874765
4 TTC29 NM_031956.3(TTC29):c.1107C>G (p.Tyr369Ter) SNV Pathogenic 805959 rs1489738488 GRCh37: 4:147724832-147724832
GRCh38: 4:146803680-146803680
5 TTC29 NM_031956.3(TTC29):c.412_425del (p.Asp138fs) Deletion Pathogenic 805960 rs1579951018 GRCh37: 4:147824857-147824870
GRCh38: 4:146903705-146903718
6 TTC29 NM_031956.3(TTC29):c.977+1G>T SNV Pathogenic 805961 rs1579787268 GRCh37: 4:147754957-147754957
GRCh38: 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
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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