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 ⁵⁷ ¹² ⁷⁵ ¹³ ¹⁵

Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa ⁵⁷ ¹² ⁷³

Spgf5 ⁵⁷ ¹² ⁷⁵

Infertility Associated with Multitailed Spermatozoa and Excessive Dna ⁵⁷ ¹²

Male Infertility Due to Macrozoospermia ¹² ⁵⁹

Macrocephalic Sperm Head Syndrome ¹² ⁵⁹

Male Infertility Due to Large-Headed Multiflagellar Polyploid Spermatozoa ⁵⁹

Male Infertility with Large-Headed Multiflagellar Polyploid Spermatozoa ⁷⁵

Infertility Associated with Multi-Tailed Spermatozoa and Excessive Dna ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

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: ³⁴

Diseases of the genitourinary system

Diseases of male genital organs

Male infertility

Orphanet: ⁵⁹

Rare infertility disorders

External Ids:

OMIM ⁵⁷ 243060

Disease Ontology ¹² DOID:0070183

Orphanet ⁵⁹ ORPHA137893

UMLS via Orphanet ⁷⁴ C0403812

ICD10 via Orphanet ³⁴ N46

MedGen ⁴² C0403812

MeSH ⁴⁴ D007248

SNOMED-CT via HPO ⁶⁹ 258211005 2904007

UMLS ⁷³ C0403812

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Summaries for Spermatogenic Failure 5

OMIM : ⁵⁷ 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 : ⁷⁵ 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

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

#	Related Disease	Score	Top Affiliating Genes
1	macrozoospermia	11.4
2	infertility	9.7	DPY19L2 AURKC
3	spermatogenic failure 6	9.3	SPATA16 PICK1 DPY19L2 AURKC

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Symptoms & Phenotypes for Spermatogenic Failure 5

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

243060

Human phenotypes related to Spermatogenic Failure 5:

³²

#	Description	HPO Frequency	HPO Source Accession
1	functional abnormality of male internal genitalia ³²		HP:0000025
2	male infertility ³²		HP:0003251

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

²⁶

#	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:

⁴⁶

#	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

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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	1274.56	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)	17435757 19147683 21733974
2	SPATA16	Spermatogenesis Associated 16	Protein Coding	17.7	DISEASES inferred ¹⁵
3	DPY19L2	Dpy-19 Like 2	Protein Coding	17.36	DISEASES inferred ¹⁵
4	PICK1	Protein Interacting With PRKCA 1	Protein Coding	16.64	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_001015879.1(AURKC): c.88delC (p.Leu30Trpfs)	deletion	Pathogenic	rs397515619	GRCh37	Chromosome 19, 57743441: 57743441
2	AURKC	NM_001015879.1(AURKC): c.88delC (p.Leu30Trpfs)	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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Spermatogenic Failure 5:

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

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