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 ⁶

Spgf31 ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
infertility may be overcome by intracytoplasmic sperm injection

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 618112

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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)

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).

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Related Diseases for Spermatogenic Failure 31

Diseases in the Spermatogenic Failure 4 family:

Spermatogenic Failure 6	Spermatogenic Failure 2
Spermatogenic Failure 5	Spermatogenic Failure 1
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

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Symptoms & Phenotypes for Spermatogenic Failure 31

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

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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

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Anatomical Context for Spermatogenic Failure 31

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Publications for Spermatogenic Failure 31

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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	PubmedIds
1	PMFBP1	Polyamine Modulated Factor 1 Binding Protein 1	Protein Coding	900	Molecular basis known ⁵⁷ Pathogenic ⁶	30032984

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Variations for Spermatogenic Failure 31

ClinVar genetic disease variations for Spermatogenic Failure 31:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PMFBP1	NM_031293.2(PMFBP1): c.1462C> T (p.Gln488Ter)	single nucleotide variant	Pathogenic	rs777263062	GRCh38	Chromosome 16, 72130708: 72130708
2	PMFBP1	NM_031293.2(PMFBP1): c.1462C> T (p.Gln488Ter)	single nucleotide variant	Pathogenic	rs777263062	GRCh37	Chromosome 16, 72164607: 72164607
3	PMFBP1	NM_031293.2(PMFBP1): c.2725C> T (p.Arg909Ter)	single nucleotide variant	Pathogenic	rs140352254	GRCh38	Chromosome 16, 72122957: 72122957
4	PMFBP1	NM_031293.2(PMFBP1): c.2725C> T (p.Arg909Ter)	single nucleotide variant	Pathogenic	rs140352254	GRCh37	Chromosome 16, 72156856: 72156856
5	PMFBP1	NM_031293.2(PMFBP1): c.2092delG (p.Ala698Profs)	deletion	Pathogenic		GRCh38	Chromosome 16, 72126129: 72126129
6	PMFBP1	NM_031293.2(PMFBP1): c.2092delG (p.Ala698Profs)	deletion	Pathogenic		GRCh37	Chromosome 16, 72160028: 72160028

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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

¹ BioSystems

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⁴ Cell Signaling Technology

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³³ ICD10

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³⁶ IUPHAR

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⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia