MCID: SPR114
MIFTS: 15

Spermatogenic Failure 20

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 20

MalaCards integrated aliases for Spermatogenic Failure 20:

Name: Spermatogenic Failure 20 53 71
Spgf20 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated july 2017)


Classifications:



External Ids:

OMIM 53 617593
MedGen 39 CN349873
MeSH 41 D007248

Summaries for Spermatogenic Failure 20

OMIM : 53 Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (617593)

MalaCards based summary : Spermatogenic Failure 20, is also known as spgf20. An important gene associated with Spermatogenic Failure 20 is CFAP44 (Cilia And Flagella Associated Protein 44).

UniProtKB/Swiss-Prot : 71 Spermatogenic failure 20: An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF20 patients have spermatozoa with absent, short, coiled, bent, and/or irregular-caliber flagella, which impair sperm motility.

Symptoms & Phenotypes for Spermatogenic Failure 20

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Internal Genitalia Male:
infertility
no sperm motility
morphologic defects of most sperm flagella
absent sperm flagella
short sperm flagella
more

Clinical features from OMIM:

617593

Drugs & Therapeutics for Spermatogenic Failure 20

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure 20

Genetic Tests for Spermatogenic Failure 20

Anatomical Context for Spermatogenic Failure 20

Publications for Spermatogenic Failure 20

Variations for Spermatogenic Failure 20

ClinVar genetic disease variations for Spermatogenic Failure 20:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFAP44 NM_018338.3(CFAP44): c.2005_2006delAT (p.Met669Valfs) deletion Pathogenic rs780798708 GRCh37 Chromosome 3, 113099792: 113099793

Expression for Spermatogenic Failure 20

Search GEO for disease gene expression data for Spermatogenic Failure 20.

Pathways for Spermatogenic Failure 20

GO Terms for Spermatogenic Failure 20

Sources for Spermatogenic Failure 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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