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 56 73 29 6
Spgf34 56 73
Spermatogenic Failure, Type 34 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
spermatogenic failure 34:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618153
OMIM Phenotypic Series 56 PS258150
MeSH 43 D007248
SNOMED-CT via HPO 68 15296000 258211005 8619003

Summaries for Spermatogenic Failure 34

OMIM : 56 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 phenotypes are infertility and absent sperm flagella

UniProtKB/Swiss-Prot : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 absent sperm flagella 31 HP:0032558
3 short sperm flagella 31 HP:0032559
4 coiled sperm flagella 31 HP:0032560

Symptoms via clinical synopsis from OMIM:

56
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. 56 6
30137358 2018

Variations for Spermatogenic Failure 34

ClinVar genetic disease variations for Spermatogenic Failure 34:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FSIP2 NM_173651.4(FSIP2):c.1607_1616delinsTGT (p.Lys536fs)indel Pathogenic 586970 rs1559024613 2:186653470-186653479 2:185788743-185788752
2 FSIP2 NM_173651.4(FSIP2):c.16389_16392AATA[1] (p.Asn5465fs)short repeat Pathogenic 586971 rs1559034750 2:186670421-186670424 2:185805694-185805697
3 FSIP2 NM_173651.4(FSIP2):c.910del (p.Gln304fs)deletion Pathogenic 586972 rs773975635 2:186618488-186618488 2:185753761-185753761
4 FSIP2 NM_173651.4(FSIP2):c.2282dup (p.Asn761fs)duplication Pathogenic 586973 rs1559025141 2:186654141-186654142 2:185789414-185789415

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 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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