Spermatogenic Failure 43 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spermatogenic Failure 43

MalaCards integrated aliases for Spermatogenic Failure 43:

Name: Spermatogenic Failure 43 ⁵⁷ ¹² ⁷³ ²⁹ ⁶

Spgf43 ⁵⁷ ¹² ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

HPO:

³¹

spermatogenic failure 43:
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:0111917

OMIM® ⁵⁷ 618751

OMIM Phenotypic Series ⁵⁷ PS258150

MeSH ⁴⁴ D007248

MedGen ⁴¹ C5231490 CN263214

SNOMED-CT via HPO ⁶⁸ 258211005 2904007

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Summaries for Spermatogenic Failure 43

OMIM® : ⁵⁷ Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis (Liu et al., 2019; Sha et al., 2019; Liu et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618751) (Updated 05-Mar-2021)

MalaCards based summary : Spermatogenic Failure 43, is also known as spgf43. An important gene associated with Spermatogenic Failure 43 is SPEF2 (Sperm Flagellar 2). 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 ansence of forward motility in spermatozoa and infertility that has material basis in homozygous or compound heterozygous mutation in SPEF2 on chromosome 5p13.2.

UniProtKB/Swiss-Prot : ⁷³ Spermatogenic failure 43: An autosomal recessive infertility disorder characterized by asthenospermia due to multiple morphologic abnormalities of sperm flagella, including short, absent, coiled, and bent flagella.

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Related Diseases for Spermatogenic Failure 43

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

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Symptoms & Phenotypes for Spermatogenic Failure 43

Human phenotypes related to Spermatogenic Failure 43:

³¹

#	Description	HPO Source Accession
1	male infertility ³¹	HP:0003251
2	reduced sperm motility ³¹	HP:0012207
3	absent sperm flagella ³¹	HP:0032558
4	coiled sperm flagella ³¹	HP:0032560

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Genitourinary Internal Genitalia Male:
infertility
coiled sperm flagella
bent sperm flagella
low sperm count (in some patients)
no progressive sperm motility
more

Clinical features from OMIM®:

618751 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Spermatogenic Failure 43

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 43

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Genetic Tests for Spermatogenic Failure 43

Genetic tests related to Spermatogenic Failure 43:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 43 ²⁹	SPEF2

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Anatomical Context for Spermatogenic Failure 43

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Publications for Spermatogenic Failure 43

Articles related to Spermatogenic Failure 43:

#	Title	Authors	PMID	Year
1	Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility. ⁶ ⁵⁷	Liu C...Cao Y	31048344	2020
2	Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype. ⁶ ⁵⁷	Sha Y...Guo T	31278745	2019
3	Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF). ⁶ ⁵⁷	Liu W...Lu Z	31151990	2019
4	Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. ⁵⁷	Coutton C...Ray PF	29449551	2018

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Genes for Spermatogenic Failure 43

Genes related to Spermatogenic Failure 43 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SPEF2	Sperm Flagellar 2	Protein Coding	1017.42	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	31151990

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Variations for Spermatogenic Failure 43

ClinVar genetic disease variations for Spermatogenic Failure 43:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SPEF2	NM_024867.4(SPEF2):c.13del (p.Leu5fs)	Deletion	Pathogenic	805986	rs1391102782	5:35618111-35618111	5:35618009-35618009
2	SPEF2	NM_024867.4(SPEF2):c.1745-2A>G	SNV	Pathogenic	805987	rs1375975527	5:35692670-35692670	5:35692568-35692568
3	SPEF2	NM_024867.4(SPEF2):c.4102G>T (p.Glu1368Ter)	SNV	Pathogenic	805988	rs1230916222	5:35776382-35776382	5:35776280-35776280
4	SPEF2	NM_024867.4(SPEF2):c.4326dup (p.Val1443fs)	Duplication	Pathogenic	805989	rs1580704451	5:35779323-35779324	5:35779221-35779222
5	SPEF2	NM_024867.4(SPEF2):c.2735del (p.Pro912fs)	Deletion	Pathogenic	805990	rs1580383744	5:35709118-35709118	5:35709016-35709016
6	SPEF2	NM_024867.4(SPEF2):c.4952del (p.Val1651fs)	Deletion	Pathogenic	805991	rs1580783651	5:35800191-35800191	5:35800089-35800089
7	SPEF2	NM_024867.4(SPEF2):c.3240del (p.Phe1080fs)	Deletion	Pathogenic	805992	rs1580529760	5:35740276-35740276	5:35740174-35740174

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Expression for Spermatogenic Failure 43

Search GEO for disease gene expression data for Spermatogenic Failure 43.

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Pathways for Spermatogenic Failure 43

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GO Terms for Spermatogenic Failure 43

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Sources for Spermatogenic Failure 43

¹ BioSystems

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁶⁹ TGDB

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spermatogenic Failure 43 (SPGF43)

Aliases & Classifications for Spermatogenic Failure 43

MalaCards integrated aliases for Spermatogenic Failure 43:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 43

Related Diseases for Spermatogenic Failure 43

Diseases in the Spermatogenic Failure 6 family:

Symptoms & Phenotypes for Spermatogenic Failure 43

Human phenotypes related to Spermatogenic Failure 43:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spermatogenic Failure 43

Genetic Tests for Spermatogenic Failure 43

Genetic tests related to Spermatogenic Failure 43:

Anatomical Context for Spermatogenic Failure 43

Publications for Spermatogenic Failure 43

Articles related to Spermatogenic Failure 43:

Genes for Spermatogenic Failure 43

Genes related to Spermatogenic Failure 43 (1 elite genes):

Variations for Spermatogenic Failure 43

ClinVar genetic disease variations for Spermatogenic Failure 43:

Expression for Spermatogenic Failure 43

Pathways for Spermatogenic Failure 43

GO Terms for Spermatogenic Failure 43

Sources for Spermatogenic Failure 43