Spermatogenic Failure 42 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Spermatogenic Failure 42

MalaCards integrated aliases for Spermatogenic Failure 42:

Name: Spermatogenic Failure 42 ⁵⁷ ¹² ⁷³ ⁶

Spgf42 ⁵⁷ ¹² ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

spermatogenic failure 42:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Reproductive diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111923

OMIM® ⁵⁷ 618745

OMIM Phenotypic Series ⁵⁷ PS258150

MeSH ⁴⁴ D007248

MedGen ⁴¹ C5231488 CN263203

SNOMED-CT via HPO ⁶⁸ 258211005 2904007

Sources

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 05-Mar-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 : ⁷³ 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.

Sources

Related Diseases for Spermatogenic Failure 42

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2	Spermatogenic Failure 5
Spermatogenic Failure 1	Spermatogenic Failure 4
Spermatogenic Failure 3	Spermatogenic Failure 7
Spermatogenic Failure 8	Spermatogenic Failure 9
Spermatogenic Failure 10	Spermatogenic Failure 11
Spermatogenic Failure 12	Spermatogenic Failure 13
Spermatogenic Failure 14	Spermatogenic Failure 15
Spermatogenic Failure 16	Spermatogenic Failure 17
Spermatogenic Failure 18	Spermatogenic Failure 19
Spermatogenic Failure 20	Spermatogenic Failure 21
Spermatogenic Failure 22	Spermatogenic Failure 23
Spermatogenic Failure 24	Spermatogenic Failure 25
Spermatogenic Failure 26	Spermatogenic Failure 27
Spermatogenic Failure 28	Spermatogenic Failure 29
Spermatogenic Failure 30	Spermatogenic Failure 31
Spermatogenic Failure 32	Spermatogenic Failure 33
Spermatogenic Failure 34	Spermatogenic Failure 35
Spermatogenic Failure 36	Spermatogenic Failure 37
Spermatogenic Failure 38	Spermatogenic Failure 39
Spermatogenic Failure 40	Spermatogenic Failure 41
Spermatogenic Failure 42	Spermatogenic Failure 43
Spermatogenic Failure 44	Spermatogenic Failure 45
Spermatogenic Failure 46	Spermatogenic Failure 47
Spermatogenic Failure 48	Spermatogenic Failure 49
Spermatogenic Failure 50	Spermatogenic Failure 51
Spermatogenic Failure 52

Sources

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 05-Mar-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 05-Mar-2021)

Sources

Drugs & Therapeutics for Spermatogenic Failure 42

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 42

Sources

Genetic Tests for Spermatogenic Failure 42

Sources

Anatomical Context for Spermatogenic Failure 42

Sources

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. ⁵⁷ ⁶	Lores P...Toure A	31735292	2019
2	Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice. ⁵⁷ ⁶	Liu C...Zhang F	31735294	2019
3	Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. ⁵⁷	Coutton C...Ray PF	30686508	2019

Sources

Genes for Spermatogenic Failure 42

Genes related to Spermatogenic Failure 42 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TTC29	Tetratricopeptide Repeat Domain 29	Protein Coding	917.28	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	31735292

Sources

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>A	SNV	Pathogenic	805956	rs1579486914	4:147627976-147627976	4:146706824-146706824
2	TTC29	NM_031956.3(TTC29):c.330_334del (p.Glu111fs)	Deletion	Pathogenic	805957	rs766352190	4:147830244-147830248	4:146909092-146909096
3	TTC29	NM_031956.3(TTC29):c.750C>A (p.Tyr250Ter)	SNV	Pathogenic	805958	rs763399136	4:147795917-147795917	4:146874765-146874765
4	TTC29	NM_031956.3(TTC29):c.1107C>G (p.Tyr369Ter)	SNV	Pathogenic	805959	rs1489738488	4:147724832-147724832	4:146803680-146803680
5	TTC29	NM_031956.3(TTC29):c.412_425del (p.Asp138fs)	Deletion	Pathogenic	805960	rs1579951018	4:147824857-147824870	4:146903705-146903718
6	TTC29	NM_031956.3(TTC29):c.977+1G>T	SNV	Pathogenic	805961	rs1579787268	4:147754957-147754957	4:146833805-146833805

Sources

Expression for Spermatogenic Failure 42

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

Sources

Pathways for Spermatogenic Failure 42

Sources

GO Terms for Spermatogenic Failure 42

Sources

Sources for Spermatogenic Failure 42

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spermatogenic Failure 42 (SPGF42)

Aliases & Classifications for Spermatogenic Failure 42

MalaCards integrated aliases for Spermatogenic Failure 42:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 42

Related Diseases for Spermatogenic Failure 42

Diseases in the Spermatogenic Failure 6 family:

Symptoms & Phenotypes for Spermatogenic Failure 42

Human phenotypes related to Spermatogenic Failure 42:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Genes for Spermatogenic Failure 42

Genes related to Spermatogenic Failure 42 (1 elite genes):

Variations for Spermatogenic Failure 42

ClinVar genetic disease variations for Spermatogenic Failure 42:

Expression for Spermatogenic Failure 42

Pathways for Spermatogenic Failure 42

GO Terms for Spermatogenic Failure 42

Sources for Spermatogenic Failure 42