SPGF5
MCID: SPR061
MIFTS: 33

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 56 12 52 25 73 13 15
Infertility Associated with Multi-Tailed Spermatozoa and Excessive Dna 52 25 73 29 6 39
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa 56 12 52 43 71
Spgf5 56 12 52 73
Male Infertility Due to Macrozoospermia 12 52 58
Macrocephalic Sperm Head Syndrome 12 52 58
Male Infertility Due to Large-Headed Multiflagellar Polyploid Spermatozoa 52 58
Infertility Associated with Multitailed Spermatozoa and Excessive Dna 56 12
Macrozoospermia 52 25
Male Infertility with Large-Headed Multiflagellar Polyploid Spermatozoa 73
Large-Headed Multiflagellar Polyploid Spermatozoa 25

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 5:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders


External Ids:

Disease Ontology 12 DOID:0070183
OMIM 56 243060
OMIM Phenotypic Series 56 PS258150
SNOMED-CT 67 236806004
ICD10 via Orphanet 33 N46
UMLS via Orphanet 72 C0403812
Orphanet 58 ORPHA137893
MedGen 41 C0403812
SNOMED-CT via HPO 68 258211005 2904007
UMLS 71 C0403812

Summaries for Spermatogenic Failure 5

Genetics Home Reference : 25 Macrozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male's genetic information that is to be passed on to the next generation. Normally, the head of a sperm cell contains one copy of each chromosome. In men with macrozoospermia, the sperm cell head contains extra chromosomes, usually four copies of each instead of the usual one. This additional genetic material accounts for the larger head size of the sperm cell. Additionally, instead of having one tail (flagellum) per sperm cell, affected sperm have multiple flagella, most often four. Because of the additional genetic material, if one of these abnormal sperm cells combines with an egg cell, the embryo will not develop or the pregnancy will result in miscarriage.

MalaCards based summary : Spermatogenic Failure 5, also known as infertility associated with multi-tailed spermatozoa and excessive dna, is related to spermatogenic failure 6 and male infertility. An important gene associated with Spermatogenic Failure 5 is AURKC (Aurora Kinase C), and among its related pathways/superpathways is DNA Damage. 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.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 137893 Definition Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy ). Visit the Orphanet disease page for more resources.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 5
Spermatogenic Failure 1 Spermatogenic Failure 4
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 Spermatogenic Failure 35
Spermatogenic Failure 36 Spermatogenic Failure 37
Spermatogenic Failure 38 Spermatogenic Failure 39
Spermatogenic Failure 40 Spermatogenic Failure 41
Spermatogenic Failure 42 Spermatogenic Failure 43

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

# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 6 29.4 SPATA16 PICK1 DPY19L2
2 male infertility 29.4 SPATA16 PICK1 DPY19L2 AURKC
3 infertility 29.3 SPATA16 DPY19L2 AURKC
4 spermatogenic failure 9 29.1 SPATA16 PICK1 DPY19L2 AURKC
5 male infertility with teratozoospermia due to single gene mutation 11.3
6 polyploidy 10.2

Graphical network of the top 20 diseases related to Spermatogenic Failure 5:



Diseases related to Spermatogenic Failure 5

Symptoms & Phenotypes for Spermatogenic Failure 5

Human phenotypes related to Spermatogenic Failure 5:

31
# Description HPO Frequency HPO Source Accession
1 functional abnormality of male internal genitalia 31 HP:0000025
2 male infertility 31 HP:0003251

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
large spermatozoa
irregularly shaped sperm heads
multi-tailed spermatozoa
polyploid sperm heads

Clinical features from OMIM:

243060

Drugs & Therapeutics for Spermatogenic Failure 5

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 5

Cochrane evidence based reviews: male infertility with large-headed, multiflagellar, polyploid spermatozoa

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. 56 6
21733974 2011
2
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population. 56 6
19147683 2009
3
Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. 6 56
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? 56
19062000 2010
5
Polyploidy in large-headed sperm: FISH study of three cases. 56
11980754 2002
6
Familial sperm polyploidy induced by genetic spermatogenesis failure: case report. 56
11726589 2001
7
Changes in the expression profile of the meiosis-involved mismatch repair genes in impaired human spermatogenesis. 61
20075417 2010

Variations for Spermatogenic Failure 5

ClinVar genetic disease variations for Spermatogenic Failure 5:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AURKC NM_001015878.2(AURKC):c.145del (p.Leu49fs)deletion Pathogenic 6306 rs397515619 19:57743438-57743438 19:57232070-57232070
2 AURKC NM_001015878.2(AURKC):c.686G>A (p.Cys229Tyr)SNV Pathogenic 6307 rs121908654 19:57746353-57746353 19:57234985-57234985
3 AURKC NM_001015878.2(AURKC):c.436-2A>GSNV Pathogenic 66088 rs397515484 19:57744826-57744826 19:57233458-57233458
4 AURKC NM_001015878.2(AURKC):c.436-4A>GSNV Uncertain significance 330231 rs148623255 19:57744824-57744824 19:57233456-57233456
5 AURKC NM_001015878.2(AURKC):c.435+11G>ASNV Uncertain significance 893266 19:57744059-57744059 19:57232691-57232691
6 AURKC NM_001015878.2(AURKC):c.760-12T>CSNV Uncertain significance 893270 19:57746603-57746603 19:57235235-57235235
7 AURKC NM_001015878.2(AURKC):c.184C>T (p.Leu62Phe)SNV Uncertain significance 330228 rs886054645 19:57743480-57743480 19:57232112-57232112
8 AURKC NM_001015878.2(AURKC):c.351C>T (p.Tyr117=)SNV Uncertain significance 330229 rs886054646 19:57743964-57743964 19:57232596-57232596
9 AURKC NM_001015878.2(AURKC):c.78_85AGCCCAGC[4] (p.Met35fs)short repeat Uncertain significance 632323 rs749123022 19:57743127-57743128 19:57231759-57231760
10 AURKC NM_001015878.2(AURKC):c.-139C>TSNV Uncertain significance 894485 19:57742478-57742478 19:57231110-57231110
11 AURKC NM_001015878.2(AURKC):c.-84C>TSNV Uncertain significance 894486 19:57742533-57742533 19:57231165-57231165
12 AURKC NM_001015878.2(AURKC):c.-53A>CSNV Uncertain significance 893059 19:57742564-57742564 19:57231196-57231196
13 AURKC NM_001015878.2(AURKC):c.-38G>TSNV Uncertain significance 893060 19:57742579-57742579 19:57231211-57231211
14 AURKC NM_001015878.2(AURKC):c.12C>G (p.Pro4=)SNV Uncertain significance 893061 19:57742628-57742628 19:57231260-57231260
15 AURKC NM_001015878.2(AURKC):c.209C>G (p.Ala70Gly)SNV Uncertain significance 893062 19:57743505-57743505 19:57232137-57232137
16 AURKC NM_001015878.2(AURKC):c.656A>C (p.Lys219Thr)SNV Uncertain significance 893267 19:57746323-57746323 19:57234955-57234955
17 AURKC NM_001015878.2(AURKC):c.675T>C (p.Ile225=)SNV Uncertain significance 893268 19:57746342-57746342 19:57234974-57234974
18 AURKC NM_001015878.2(AURKC):c.689A>G (p.Tyr230Cys)SNV Uncertain significance 893269 19:57746356-57746356 19:57234988-57234988
19 AURKC NM_001015878.2(AURKC):c.762A>G (p.Val254=)SNV Uncertain significance 893271 19:57746617-57746617 19:57235249-57235249
20 AURKC NM_001015878.2(AURKC):c.779T>C (p.Leu260Pro)SNV Uncertain significance 894127 19:57746634-57746634 19:57235266-57235266
21 AURKC NM_001015878.2(AURKC):c.780A>G (p.Leu260=)SNV Uncertain significance 894128 19:57746635-57746635 19:57235267-57235267
22 AURKC NM_001015878.2(AURKC):c.*6G>CSNV Uncertain significance 894129 19:57746791-57746791 19:57235423-57235423
23 AURKC NM_001015878.2(AURKC):c.621G>A (p.Pro207=)SNV Likely benign 330232 rs148940837 19:57746288-57746288 19:57234920-57234920
24 AURKC NM_001015878.2(AURKC):c.396G>A (p.Leu132=)SNV Benign/Likely benign 330230 rs55710619 19:57744009-57744009 19:57232641-57232641
25 AURKC NM_001015878.2(AURKC):c.-128C>TSNV Benign 330225 rs58264281 19:57742489-57742489 19:57231121-57231121
26 AURKC NM_001015878.2(AURKC):c.-145G>CSNV Benign 330224 rs11084490 19:57742472-57742472 19:57231104-57231104
27 AURKC NM_001015878.2(AURKC):c.*38G>ASNV Benign 894130 19:57746823-57746823 19:57235455-57235455
28 AURKC NM_001015878.2(AURKC):c.235A>G (p.Ile79Val)SNV Benign 893063 19:57743531-57743531 19:57232163-57232163

Expression for Spermatogenic Failure 5

Search GEO for disease gene expression data for Spermatogenic Failure 5.

Pathways for Spermatogenic Failure 5

Pathways related to Spermatogenic Failure 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.27 TLK1 RCC2 AURKC

GO Terms for Spermatogenic Failure 5

Cellular components related to Spermatogenic Failure 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 midbody GO:0030496 8.96 RCC2 AURKC
2 chromosome, centromeric region GO:0000775 8.62 RCC2 AURKC

Biological processes related to Spermatogenic Failure 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.33 TLK1 RCC2 AURKC
2 protein phosphorylation GO:0006468 9.13 TLK1 PICK1 AURKC
3 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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