SPGF5
MCID: SPR061
MIFTS: 25

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 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

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
spermatogenic failure 5:
Inheritance autosomal recessive inheritance


Classifications:

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

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.

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

Drugs & Therapeutics for Spermatogenic Failure 5

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 5

Genetic Tests for Spermatogenic Failure 5

Anatomical Context for Spermatogenic Failure 5

Publications for Spermatogenic Failure 5

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

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 AURKC DPY19L2 SPATA16

Sources for Spermatogenic Failure 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....