SPGF27
MCID: SPR130
MIFTS: 19

Spermatogenic Failure 27 (SPGF27)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 27

MalaCards integrated aliases for Spermatogenic Failure 27:

Name: Spermatogenic Failure 27 57 12 73 29 6
Spgf27 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 brothers (last curated may 2018)


HPO:

31
spermatogenic failure 27:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111928
OMIM® 57 617965
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Spermatogenic Failure 27

OMIM® : 57 Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018). For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617965) (Updated 05-Mar-2021)

MalaCards based summary : Spermatogenic Failure 27, is also known as spgf27. An important gene associated with Spermatogenic Failure 27 is AK7 (Adenylate Kinase 7). Related phenotype is infertility.

Disease Ontology : 12 A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has material basis in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2.

UniProtKB/Swiss-Prot : 73 Spermatogenic failure 27: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple morphologic abnormalities of the sperm flagella, including short, irregular, coiled, or absent flagella.

Related Diseases for Spermatogenic Failure 27

Symptoms & Phenotypes for Spermatogenic Failure 27

Human phenotypes related to Spermatogenic Failure 27:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Male:
infertility
absent flagella
short flagella
coiled flagella
bent flagella
more

Clinical features from OMIM®:

617965 (Updated 05-Mar-2021)

Drugs & Therapeutics for Spermatogenic Failure 27

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 27

Genetic Tests for Spermatogenic Failure 27

Genetic tests related to Spermatogenic Failure 27:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 27 29 AK7

Anatomical Context for Spermatogenic Failure 27

Publications for Spermatogenic Failure 27

Articles related to Spermatogenic Failure 27:

# Title Authors PMID Year
1
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. 57 6
29365104 2018

Variations for Spermatogenic Failure 27

ClinVar genetic disease variations for Spermatogenic Failure 27:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AK7 NM_152327.5(AK7):c.2018T>G (p.Leu673Arg) SNV Pathogenic 523614 rs116298211 14:96953278-96953278 14:96486941-96486941
2 AK7 NM_152327.5(AK7):c.2018T>C (p.Leu673Pro) SNV Likely pathogenic 617939 rs116298211 14:96953278-96953278 14:96486941-96486941

UniProtKB/Swiss-Prot genetic disease variations for Spermatogenic Failure 27:

73
# Symbol AA change Variation ID SNP ID
1 AK7 p.Leu673Pro VAR_080917 rs116298211

Expression for Spermatogenic Failure 27

Search GEO for disease gene expression data for Spermatogenic Failure 27.

Pathways for Spermatogenic Failure 27

GO Terms for Spermatogenic Failure 27

Sources for Spermatogenic Failure 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....