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 ⁷⁵ ¹³

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

Spgf5 ⁵⁷ ⁷⁵

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

Infertility Associated with Multitailed Spermatozoa and Excessive Dna ⁵⁷

Male Infertility Due to Macrozoospermia ⁵⁹

Macrocephalic Sperm Head Syndrome ⁵⁹

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

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. 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

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

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

#	Related Disease	Score	Top Affiliating Genes
1	macrozoospermia	11.3

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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

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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	1267.99	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ GeneCards inferred via : Disorders (show sections)	19147683 21733974 17435757

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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

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Sources for Spermatogenic Failure 5

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