SPGF34
MCID: SPR137
MIFTS: 19

Spermatogenic Failure 34 (SPGF34)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 34

MalaCards integrated aliases for Spermatogenic Failure 34:

Name: Spermatogenic Failure 34 57 74 29 6
Spgf34 57 74
Spermatogenic Failure, Type 34 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spermatogenic failure 34:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D007248

Summaries for Spermatogenic Failure 34

OMIM : 57 Spermatogenic failure-34 is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present (Martinez et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618153)

MalaCards based summary : Spermatogenic Failure 34, is also known as spgf34. An important gene associated with Spermatogenic Failure 34 is FSIP2 (Fibrous Sheath Interacting Protein 2). Related phenotype is infertility.

UniProtKB/Swiss-Prot : 74 Spermatogenic failure 34: An autosomal recessive infertility disorder caused by spermatogenesis defects that result in multiple abnormalities of sperm flagellum, including irregular-caliber, short, coiled, or absent flagella.

Symptoms & Phenotypes for Spermatogenic Failure 34

Human phenotypes related to Spermatogenic Failure 34:

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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Male:
infertility
absent sperm flagella
short sperm flagella
coiled sperm flagella
irregular width of sperm flagella
more

Clinical features from OMIM:

618153

Drugs & Therapeutics for Spermatogenic Failure 34

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 34

Genetic Tests for Spermatogenic Failure 34

Genetic tests related to Spermatogenic Failure 34:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 34 29 FSIP2

Anatomical Context for Spermatogenic Failure 34

Publications for Spermatogenic Failure 34

Articles related to Spermatogenic Failure 34:

# Title Authors PMID Year
1
Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella. 8 71
30137358 2018

Variations for Spermatogenic Failure 34

ClinVar genetic disease variations for Spermatogenic Failure 34:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FSIP2 NM_173651.4(FSIP2): c.1607_1616delinsTGT (p.Lys536fs) indel Pathogenic 2:186653470-186653479 2:185788743-185788752
2 FSIP2 NM_173651.4(FSIP2): c.16389_16392AATA[1] (p.Asn5465fs) short repeat Pathogenic 2:186670426-186670429 2:185805699-185805702
3 FSIP2 NM_173651.4(FSIP2): c.910del (p.Gln304fs) deletion Pathogenic 2:186618488-186618488 2:185753761-185753761
4 FSIP2 NM_173651.4(FSIP2): c.2282dup (p.Asn761fs) duplication Pathogenic 2:186654145-186654145 2:185789418-185789418

Expression for Spermatogenic Failure 34

Search GEO for disease gene expression data for Spermatogenic Failure 34.

Pathways for Spermatogenic Failure 34

GO Terms for Spermatogenic Failure 34

Sources for Spermatogenic Failure 34

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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