Spermatogenic Failure 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spermatogenic Failure 5

MalaCards integrated aliases for Spermatogenic Failure 5:

Name: Spermatogenic Failure 5 ⁵⁸ ¹² ⁷⁶ ¹³ ¹⁵

Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa ⁵⁸ ¹² ⁷⁴

Spgf5 ⁵⁸ ¹² ⁷⁶

Infertility Associated with Multitailed Spermatozoa and Excessive Dna ⁵⁸ ¹²

Male Infertility Due to Macrozoospermia ¹² ⁶⁰

Macrocephalic Sperm Head Syndrome ¹² ⁶⁰

Male Infertility Due to Large-Headed Multiflagellar Polyploid Spermatozoa ⁶⁰

Male Infertility with Large-Headed Multiflagellar Polyploid Spermatozoa ⁷⁶

Infertility Associated with Multi-Tailed Spermatozoa and Excessive Dna ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

male infertility due to large-headed multiflagellar polyploid spermatozoa
Inheritance: Autosomal recessive;

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

spermatogenic failure 5:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the genitourinary system

Diseases of male genital organs

Male infertility

Orphanet: ⁶⁰

Rare infertility disorders

External Ids:

Disease Ontology ¹² DOID:0070183

OMIM ⁵⁸ 243060

MeSH ⁴⁵ D007248

ICD10 via Orphanet ³⁵ N46

UMLS via Orphanet ⁷⁵ C0403812

Orphanet ⁶⁰ ORPHA137893

MedGen ⁴³ C0403812

SNOMED-CT via HPO ⁷⁰ 258211005 2904007

UMLS ⁷⁴ C0403812

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Summaries for Spermatogenic Failure 5

OMIM : ⁵⁸ Spermatogenic failure-5 is a form of male infertility associated with large-headed, multiflagellar, polyploid spermatozoa (Dieterich et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (243060)

MalaCards based summary : Spermatogenic Failure 5, also known as male infertility with large-headed, multiflagellar, polyploid spermatozoa, is related to macrozoospermia and infertility. An important gene associated with Spermatogenic Failure 5 is AURKC (Aurora Kinase C). Related phenotypes are functional abnormality of male internal genitalia and male infertility

Disease Ontology : ¹² A male infertility characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has material basis in mutation in the AURKC gene on chromosome 19q13.

UniProtKB/Swiss-Prot : ⁷⁶ Spermatogenic failure 5: An infertility disorder caused by spermatogenesis defects. Semen from affected men show close to 100% morphologically abnormal multiflagellar spermatozoa with low motility, oversized irregular heads, and abnormal midpiece and acrosome.

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Related Diseases for Spermatogenic Failure 5

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	Spermatogenic Failure 35
Spermatogenic Failure 36	Spermatogenic Failure 37
Spermatogenic Failure 38

Diseases related to Spermatogenic Failure 5 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	macrozoospermia	11.5
2	infertility	9.5	AURKC DPY19L2
3	spermatogenic failure 6	9.0	AURKC DPY19L2 PICK1 SPATA16

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Symptoms & Phenotypes for Spermatogenic Failure 5

Human phenotypes related to Spermatogenic Failure 5:

³³

#	Description	HPO Frequency	HPO Source Accession
1	functional abnormality of male internal genitalia ³³		HP:0000025
2	male infertility ³³		HP:0003251

Symptoms via clinical synopsis from OMIM:

⁵⁸

Laboratory Abnormalities:
large spermatozoa
irregularly shaped sperm heads
multi-tailed spermatozoa
polyploid sperm heads

Clinical features from OMIM:

243060

GenomeRNAi Phenotypes related to Spermatogenic Failure 5 according to GeneCards Suite gene sharing:

²⁷

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-2	9.66	AURKC
2	Decreased viability	GR00221-A-2	9.66	PICK1
3	Decreased viability	GR00221-A-3	9.66	AURKC PICK1
4	Decreased viability	GR00221-A-4	9.66	AURKC PICK1
5	Decreased viability	GR00301-A	9.66	AURKC
6	Decreased viability	GR00342-S-1	9.66	AURKC
7	Decreased viability	GR00381-A-1	9.66	AURKC
8	Decreased viability	GR00402-S-2	9.66	AURKC PICK1

MGI Mouse Phenotypes related to Spermatogenic Failure 5:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	reproductive system	MP:0005389	8.92	AURKC DPY19L2 PICK1 SPATA16

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Drugs & Therapeutics for Spermatogenic Failure 5

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 5

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Genetic Tests for Spermatogenic Failure 5

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Anatomical Context for Spermatogenic Failure 5

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Publications for Spermatogenic Failure 5

Articles related to Spermatogenic Failure 5:

#	Title	Authors	Year
1	A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis. ( 21733974 )	Ben Khelifa M...Ray PF	2011
2	The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. ( 19147683 )	Dieterich K...Ray PF	2009
3	Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. ( 17435757 )	Dieterich K...Ray PF	2007

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Genes for Spermatogenic Failure 5

Genes related to Spermatogenic Failure 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AURKC	Aurora Kinase C	Protein Coding	1274.55	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)	17435757 19147683 21733974
2	SPATA16	Spermatogenesis Associated 16	Protein Coding	17.53	DISEASES inferred ¹⁵
3	DPY19L2	Dpy-19 Like 2	Protein Coding	17.19	DISEASES inferred ¹⁵
4	PICK1	Protein Interacting With PRKCA 1	Protein Coding	16.66	DISEASES inferred ¹⁵

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Variations for Spermatogenic Failure 5

ClinVar genetic disease variations for Spermatogenic Failure 5:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	AURKC	NM_001015878.1(AURKC): c.145del (p.Leu49Trpfs)	deletion	Pathogenic	rs397515619	GRCh37	Chromosome 19, 57743441: 57743441
2	AURKC	NM_001015878.1(AURKC): c.145del (p.Leu49Trpfs)	deletion	Pathogenic	rs397515619	GRCh38	Chromosome 19, 57232073: 57232073
3	AURKC	NM_001015879.1(AURKC): c.629G> A (p.Cys210Tyr)	single nucleotide variant	Pathogenic	rs121908654	GRCh37	Chromosome 19, 57746353: 57746353
4	AURKC	NM_001015879.1(AURKC): c.629G> A (p.Cys210Tyr)	single nucleotide variant	Pathogenic	rs121908654	GRCh38	Chromosome 19, 57234985: 57234985
5	AURKC	NM_001015879.1(AURKC): c.379-2A> G	single nucleotide variant	Pathogenic	rs397515484	GRCh37	Chromosome 19, 57744826: 57744826
6	AURKC	NM_001015879.1(AURKC): c.379-2A> G	single nucleotide variant	Pathogenic	rs397515484	GRCh38	Chromosome 19, 57233458: 57233458

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Expression for Spermatogenic Failure 5

Search GEO for disease gene expression data for Spermatogenic Failure 5.

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Pathways for Spermatogenic Failure 5

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GO Terms for Spermatogenic Failure 5

Biological processes related to Spermatogenic Failure 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	spermatogenesis	GO:0007283	8.8	AURKC DPY19L2 SPATA16

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Sources for Spermatogenic Failure 5

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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Spermatogenic Failure 5 (SPGF5)

Aliases & Classifications for Spermatogenic Failure 5

MalaCards integrated aliases for Spermatogenic Failure 5:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spermatogenic Failure 5

Related Diseases for Spermatogenic Failure 5

Diseases in the Spermatogenic Failure 4 family:

Diseases related to Spermatogenic Failure 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Spermatogenic Failure 5

Human phenotypes related to Spermatogenic Failure 5:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

GenomeRNAi Phenotypes related to Spermatogenic Failure 5 according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Spermatogenic Failure 5:

Drugs & Therapeutics for Spermatogenic Failure 5

Genetic Tests for Spermatogenic Failure 5

Anatomical Context for Spermatogenic Failure 5

Publications for Spermatogenic Failure 5

Articles related to Spermatogenic Failure 5:

Genes for Spermatogenic Failure 5

Genes related to Spermatogenic Failure 5 (1 elite genes):

Variations for Spermatogenic Failure 5

ClinVar genetic disease variations for Spermatogenic Failure 5:

Expression for Spermatogenic Failure 5

Pathways for Spermatogenic Failure 5

GO Terms for Spermatogenic Failure 5

Biological processes related to Spermatogenic Failure 5 according to GeneCards Suite gene sharing:

Sources for Spermatogenic Failure 5