MCID: SPR114
MIFTS: 12

Spermatogenic Failure 20

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Spermatogenic Failure 20

MalaCards integrated aliases for Spermatogenic Failure 20:

Name: Spermatogenic Failure 20 54

Characteristics:

OMIM:

54
Miscellaneous:
based on report of 1 patient (last curated july 2017)

Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 54 617593

Summaries for Spermatogenic Failure 20

OMIM : 54
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 An important gene associated with Spermatogenic Failure 20 is CFAP44 (Cilia And Flagella Associated Protein 44).

Related Diseases for Spermatogenic Failure 20

Symptoms & Phenotypes for Spermatogenic Failure 20

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Internal Genitalia Male:
thickening of fibrous sheath
disorganization of fibrous sheath
absent central pair of singlet microtubules seen on scanning electron microscopy (sem) of sperm
irregular width of sperm flagella
coiled 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
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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