SPGF5
MCID: SPR061
MIFTS: 28

Spermatogenic Failure 5 (SPGF5)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 5

MalaCards integrated aliases for Spermatogenic Failure 5:

Name: Spermatogenic Failure 5 57 12 74 13 15
Infertility Associated with Multi-Tailed Spermatozoa and Excessive Dna 74 29 6 40
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa 57 12 72
Spgf5 57 12 74
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 74

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spermatogenic failure 5:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare infertility disorders


External Ids:

Disease Ontology 12 DOID:0070183
MeSH 44 D007248
ICD10 via Orphanet 34 N46
UMLS via Orphanet 73 C0403812
Orphanet 59 ORPHA137893
MedGen 42 C0403812
UMLS 72 C0403812

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 infertility associated with multi-tailed spermatozoa and excessive dna, is related to infertility and 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

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 : 74 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.

Related Diseases for Spermatogenic Failure 5

Symptoms & Phenotypes for Spermatogenic Failure 5

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

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

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

Drugs & Therapeutics for Spermatogenic Failure 5

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 5

Genetic Tests for Spermatogenic Failure 5

Genetic tests related to Spermatogenic Failure 5:

# Genetic test Affiliating Genes
1 Infertility Associated with Multi-Tailed Spermatozoa and Excessive Dna 29 AURKC

Anatomical Context for Spermatogenic Failure 5

Publications for Spermatogenic Failure 5

Articles related to Spermatogenic Failure 5:

# Title Authors PMID Year
1
A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis. 8 71
21733974 2011
2
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. 8 71
19147683 2009
3
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. 8 71
17435757 2007
4
Can intracytoplasmic morphologically selected sperm injection be used to select normal-sized sperm heads in infertile patients with macrocephalic sperm head syndrome? 8
19062000 2010
5
Polyploidy in large-headed sperm: FISH study of three cases. 8
11980754 2002
6
Familial sperm polyploidy induced by genetic spermatogenesis failure: case report. 8
11726589 2001
7
Changes in the expression profile of the meiosis-involved mismatch repair genes in impaired human spermatogenesis. 38
20075417 2010

Variations for Spermatogenic Failure 5

ClinVar genetic disease variations for Spermatogenic Failure 5:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AURKC NM_001015879.2(AURKC): c.88del (p.Leu30fs) deletion Pathogenic rs397515619 19:57743441-57743441 19:57232073-57232073
2 AURKC NM_001015879.2(AURKC): c.629G> A (p.Cys210Tyr) single nucleotide variant Pathogenic rs121908654 19:57746353-57746353 19:57234985-57234985
3 AURKC NM_001015879.2(AURKC): c.379-2A> G single nucleotide variant Pathogenic rs397515484 19:57744826-57744826 19:57233458-57233458
4 AURKC NM_001015879.2(AURKC): c.21_28AGCCCAGC[4] (p.Met16fs) short repeat Uncertain significance 19:57743127-57743127 19:57231761-57231768

Expression for Spermatogenic Failure 5

Search GEO for disease gene expression data 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:

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

Sources for Spermatogenic Failure 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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