SPGF27
MCID: SPR130
MIFTS: 16

Spermatogenic Failure 27 (SPGF27)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 27

MalaCards integrated aliases for Spermatogenic Failure 27:

Name: Spermatogenic Failure 27 57 75 6
Spgf27 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617965
MedGen 42 CN244916
MeSH 44 D007248
SNOMED-CT via HPO 69 15296000 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)

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.

UniProtKB/Swiss-Prot : 75 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.

Symptoms & Phenotypes for Spermatogenic Failure 27

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
infertility
absent flagella
short flagella
coiled flagella
bent flagella
more

Clinical features from OMIM:

617965

Human phenotypes related to Spermatogenic Failure 27:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789

Drugs & Therapeutics for Spermatogenic Failure 27

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 27

Genetic Tests for Spermatogenic Failure 27

Anatomical Context for Spermatogenic Failure 27

Publications for Spermatogenic Failure 27

Variations for Spermatogenic Failure 27

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

75
# Symbol AA change Variation ID SNP ID
1 AK7 p.Leu673Pro VAR_080917 rs116298211

ClinVar genetic disease variations for Spermatogenic Failure 27:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AK7 NM_152327.4(AK7): c.2018T> G (p.Leu673Arg) single nucleotide variant Pathogenic rs116298211 GRCh37 Chromosome 14, 96953278: 96953278
2 AK7 NM_152327.4(AK7): c.2018T> G (p.Leu673Arg) single nucleotide variant Pathogenic rs116298211 GRCh38 Chromosome 14, 96486941: 96486941

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 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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