Spermatogenic Failure 31 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spermatogenic Failure 31

MalaCards integrated aliases for Spermatogenic Failure 31:

Name: Spermatogenic Failure 31 ⁵⁷ ¹² ⁷³ ²⁹ ⁶

Spgf31 ⁵⁷ ¹² ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
infertility may be overcome by intracytoplasmic sperm injection

HPO:

³¹

spermatogenic failure 31:
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:0111922

OMIM® ⁵⁷ 618112

OMIM Phenotypic Series ⁵⁷ PS258150

MeSH ⁴⁴ D007248

MedGen ⁴¹ C4748234 CN253820

SNOMED-CT via HPO ⁶⁸ 258211005 2904007

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Summaries for Spermatogenic Failure 31

OMIM® : ⁵⁷ SPGF31 is characterized by male infertility due to oligozoospermia with a high proportion (greater than 90%) of acephalic sperm. Affected couples may overcome infertility with intracytoplasmic sperm injection (Zhu et al., 2018). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see 258150. (618112) (Updated 05-Mar-2021)

MalaCards based summary : Spermatogenic Failure 31, is also known as spgf31. An important gene associated with Spermatogenic Failure 31 is PMFBP1 (Polyamine Modulated Factor 1 Binding Protein 1). Related phenotypes are male infertility and acephalic spermatozoa

Disease Ontology : ¹² A spermatogenic failure characterized by oligozoospermia with a high proportion of acephalic sperm that has material basis in homozygous or compound heterozygous mutation in PMFBP1 on chromosome 16q22.2.

UniProtKB/Swiss-Prot : ⁷³ Spermatogenic failure 31: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in oligozoospermia with a high proportion of acephalic sperm.

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Related Diseases for Spermatogenic Failure 31

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 31

Human phenotypes related to Spermatogenic Failure 31:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	male infertility ³¹	very rare (1%)	HP:0003251
2	acephalic spermatozoa ³¹	very rare (1%)	HP:0012869

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Genitourinary Internal Genitalia Male:
oligozoospermia
no progressively motile sperm
acephalic sperm (more than 95%)
sperm with abnormal head-tail junction
tailless sperm

Clinical features from OMIM®:

618112 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Spermatogenic Failure 31

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 31

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Genetic Tests for Spermatogenic Failure 31

Genetic tests related to Spermatogenic Failure 31:

#	Genetic test	Affiliating Genes
1	Spermatogenic Failure 31 ²⁹	PMFBP1

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Anatomical Context for Spermatogenic Failure 31

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Publications for Spermatogenic Failure 31

Articles related to Spermatogenic Failure 31:

#	Title	Authors	PMID	Year
1	Biallelic mutations in PMFBP1 cause acephalic spermatozoa. ⁶ ⁵⁷	Sha YW...Wu JF	30298696	2019
2	Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome. ⁵⁷ ⁶	Zhu F...Li W	30032984	2018
3	Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. ⁵⁷	Zhu F...Cao Y	27640305	2016

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Genes for Spermatogenic Failure 31

Genes related to Spermatogenic Failure 31 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PMFBP1	Polyamine Modulated Factor 1 Binding Protein 1	Protein Coding	1017.32	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	30032984

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Variations for Spermatogenic Failure 31

ClinVar genetic disease variations for Spermatogenic Failure 31:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PMFBP1	NM_031293.3(PMFBP1):c.1462C>T (p.Gln488Ter)	SNV	Pathogenic	560417	rs777263062	16:72164607-72164607	16:72130708-72130708
2	PMFBP1	NM_031293.3(PMFBP1):c.2725C>T (p.Arg909Ter)	SNV	Pathogenic	560418	rs140352254	16:72156856-72156856	16:72122957-72122957
3	PMFBP1	NM_031293.3(PMFBP1):c.2092del (p.Ala698fs)	Deletion	Pathogenic	560419	rs1567621034	16:72160028-72160028	16:72126129-72126129
4	PMFBP1	NM_031293.3(PMFBP1):c.2561_2562del (p.Lys854fs)	Deletion	Pathogenic	619946	rs772371753	16:72158693-72158694	16:72124794-72124795
5	PMFBP1	NM_031293.3(PMFBP1):c.327T>A (p.Tyr109Ter)	SNV	Pathogenic	619947	rs759127010	16:72188197-72188197	16:72154298-72154298
6	PMFBP1	NM_031293.3(PMFBP1):c.2278_2281del (p.Lys760fs)	Deletion	Pathogenic	807468	rs769554360	16:72159277-72159280	16:72125378-72125381

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Expression for Spermatogenic Failure 31

Search GEO for disease gene expression data for Spermatogenic Failure 31.

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Pathways for Spermatogenic Failure 31

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GO Terms for Spermatogenic Failure 31

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Sources for Spermatogenic Failure 31

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁷¹ UMLS

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⁷⁴ Wikipedia

Spermatogenic Failure 31 (SPGF31)

Aliases & Classifications for Spermatogenic Failure 31

MalaCards integrated aliases for Spermatogenic Failure 31:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 31

Related Diseases for Spermatogenic Failure 31

Diseases in the Spermatogenic Failure 6 family:

Symptoms & Phenotypes for Spermatogenic Failure 31

Human phenotypes related to Spermatogenic Failure 31:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Spermatogenic Failure 31

Genetic Tests for Spermatogenic Failure 31

Genetic tests related to Spermatogenic Failure 31:

Anatomical Context for Spermatogenic Failure 31

Publications for Spermatogenic Failure 31

Articles related to Spermatogenic Failure 31:

Genes for Spermatogenic Failure 31

Genes related to Spermatogenic Failure 31 (1 elite genes):

Variations for Spermatogenic Failure 31

ClinVar genetic disease variations for Spermatogenic Failure 31:

Expression for Spermatogenic Failure 31

Pathways for Spermatogenic Failure 31

GO Terms for Spermatogenic Failure 31

Sources for Spermatogenic Failure 31