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 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

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spermatogenic failure 5:
Inheritance autosomal recessive inheritance


Classifications:

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

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.

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

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_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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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