SPGF41
MCID: SPR151
MIFTS: 13

Spermatogenic Failure 41 (SPGF41)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 41

MalaCards integrated aliases for Spermatogenic Failure 41:

Name: Spermatogenic Failure 41 56 6
Spgf41 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient with a splice site mutation (last curated november 2019)
intracytoplasmic sperm injection may result in successful pregnancy


Classifications:



External Ids:

OMIM 56 618670
OMIM Phenotypic Series 56 PS258150

Summaries for Spermatogenic Failure 41

OMIM : 56 Spermatogenic failure-41 (SPGF41) is characterized by infertility due to multiple morphologic abnormalities of the flagella (MMAF). Patient semen analysis has also shown oligozoospermia, and the flagellar abnormalities include short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities (Beurois et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (618670)

MalaCards based summary : Spermatogenic Failure 41, is also known as spgf41. An important gene associated with Spermatogenic Failure 41 is CFAP70 (Cilia And Flagella Associated Protein 70).

Symptoms & Phenotypes for Spermatogenic Failure 41

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
infertility
oligospermia
tapered sperm head
immotile sperm
short flagella

Clinical features from OMIM:

618670

Drugs & Therapeutics for Spermatogenic Failure 41

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 41

Genetic Tests for Spermatogenic Failure 41

Anatomical Context for Spermatogenic Failure 41

Publications for Spermatogenic Failure 41

Articles related to Spermatogenic Failure 41:

# Title Authors PMID Year
1
CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report. 56 6
31621862 2019
2
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 56
30686508 2019

Variations for Spermatogenic Failure 41

ClinVar genetic disease variations for Spermatogenic Failure 41:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFAP70 NC_000010.11:g.73297174C>ASNV Pathogenic 694584

Expression for Spermatogenic Failure 41

Search GEO for disease gene expression data for Spermatogenic Failure 41.

Pathways for Spermatogenic Failure 41

GO Terms for Spermatogenic Failure 41

Sources for Spermatogenic Failure 41

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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