MCID: SPR061
MIFTS: 19

Spermatogenic Failure 5

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 5

MalaCards integrated aliases for Spermatogenic Failure 5:

Name: Spermatogenic Failure 5 53 71 13
Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa 53 69
Spgf5 53 71
Male Infertility Due to Large-Headed Multiflagellar Polyploid Spermatozoa 55
Male Infertility with Large-Headed Multiflagellar Polyploid Spermatozoa 71
Infertility Associated with Multi-Tailed Spermatozoa and Excessive Dna 71
Infertility Associated with Multitailed Spermatozoa and Excessive Dna 53
Male Infertility Due to Macrozoospermia 55
Macrocephalic Sperm Head Syndrome 55

Characteristics:

Orphanet epidemiological data:

55

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 5:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare infertility disorders


External Ids:

OMIM 53 243060
Orphanet 55 ORPHA137893
UMLS via Orphanet 70 C0403812
ICD10 via Orphanet 33 N46
MedGen 39 C0403812
MeSH 41 D007248
SNOMED-CT via HPO 65 258211005 2904007
UMLS 69 C0403812

Summaries for Spermatogenic Failure 5

OMIM : 53 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 has symptoms including functional abnormality of male internal genitalia and male infertility. An important gene associated with Spermatogenic Failure 5 is AURKC (Aurora Kinase C).

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

53
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:

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

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.379-2A> G single nucleotide variant Pathogenic rs397515484 GRCh37 Chromosome 19, 57744826: 57744826
2 AURKC NM_001015879.1(AURKC): c.88delC (p.Leu30Trpfs) deletion Pathogenic rs397515619 GRCh37 Chromosome 19, 57743441: 57743441
3 AURKC NM_001015879.1(AURKC): c.629G> A (p.Cys210Tyr) single nucleotide variant Pathogenic rs121908654 GRCh37 Chromosome 19, 57746353: 57746353

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

Sources for Spermatogenic Failure 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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