SPGF41
MCID: SPR151
MIFTS: 17

Spermatogenic Failure 41 (SPGF41)

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

Aliases & Classifications for Spermatogenic Failure 41

MalaCards integrated aliases for Spermatogenic Failure 41:

Name: Spermatogenic Failure 41 57 12 73 6
Spgf41 57 12 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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


HPO:

31
spermatogenic failure 41:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111912
OMIM® 57 618670
OMIM Phenotypic Series 57 PS258150
MeSH 44 D007248
SNOMED-CT via HPO 68 258211005 2904007

Summaries for Spermatogenic Failure 41

OMIM® : 57 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) (Updated 05-Mar-2021)

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). Related phenotypes are male infertility and oligospermia

Disease Ontology : 12 A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has material basis in homozygous or compound heterozygous mutation in CFAP70 on chromosome 10q22.2.

UniProtKB/Swiss-Prot : 73 Spermatogenic failure 41: An autosomal recessive infertility disorder characterized by oligozoospermia, severe asthenozoospermia and flagellar abnormalities such as short, absent, coiled, and irregular-caliber flagella. Some sperm show tapered heads and acrosomal abnormalities.

Related Diseases for Spermatogenic Failure 41

Symptoms & Phenotypes for Spermatogenic Failure 41

Human phenotypes related to Spermatogenic Failure 41:

31
# Description HPO Frequency HPO Source Accession
1 male infertility 31 very rare (1%) HP:0003251
2 oligospermia 31 very rare (1%) HP:0000798
3 immotile sperm 31 very rare (1%) HP:0012208
4 short sperm flagella 31 very rare (1%) HP:0032559
5 tapered sperm head 31 very rare (1%) HP:0032562

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Male:
infertility
oligospermia
immotile sperm
tapered sperm head
short flagella

Clinical features from OMIM®:

618670 (Updated 05-Mar-2021)

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. 57 6
31621862 2019
2
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice. 57
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 NM_001350933.1(CFAP70):c.1513-1G>T SNV Pathogenic 694584 rs1589391313 10:75056932-75056932 10:73297174-73297174

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
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
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