SPGFX3
MCID: SPR155
MIFTS: 15

Spermatogenic Failure, X-Linked, 3 (SPGFX3)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure, X-Linked, 3

MalaCards integrated aliases for Spermatogenic Failure, X-Linked, 3:

Name: Spermatogenic Failure, X-Linked, 3 57 6
Spgfx3 57 12
X-Linked Spermatogenic Failure 3 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
successful pregnancies may be achieved by intracytoplasmic sperm injection


Classifications:



External Ids:

Disease Ontology 12 DOID:0112274
OMIM® 57 301059
OMIM Phenotypic Series 57 PS258150

Summaries for Spermatogenic Failure, X-Linked, 3

OMIM® : 57 X-linked spermatogenic failure-3 (SPGFX3) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (301059) (Updated 05-Apr-2021)

MalaCards based summary : Spermatogenic Failure, X-Linked, 3, is also known as spgfx3. An important gene associated with Spermatogenic Failure, X-Linked, 3 is CFAP47 (Cilia And Flagella Associated Protein 47).

Disease Ontology : 12 A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has material basis in hemizygous mutation in CFAP47 on chromosome Xp21.1.

Related Diseases for Spermatogenic Failure, X-Linked, 3

Symptoms & Phenotypes for Spermatogenic Failure, X-Linked, 3

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
infertility
asthenoteratozoospermia
reduced semen volume (in some patients)
reduced sperm concentration
severely reduced progressive motility
more

Clinical features from OMIM®:

301059 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spermatogenic Failure, X-Linked, 3

Search Clinical Trials , NIH Clinical Center for Spermatogenic Failure, X-Linked, 3

Genetic Tests for Spermatogenic Failure, X-Linked, 3

Anatomical Context for Spermatogenic Failure, X-Linked, 3

Publications for Spermatogenic Failure, X-Linked, 3

Articles related to Spermatogenic Failure, X-Linked, 3:

# Title Authors PMID Year
1
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility. 57 6
33472045 2021

Variations for Spermatogenic Failure, X-Linked, 3

ClinVar genetic disease variations for Spermatogenic Failure, X-Linked, 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CXorf30 , CFAP47 NM_001304548.2(CFAP47):c.7154T>A (p.Ile2385Asn) SNV Pathogenic 996916 GRCh37: X:36254190-36254190
GRCh38: X:36236073-36236073
2 CFAP47 NM_001304548.2(CFAP47):c.5224A>G (p.Ser1742Gly) SNV Pathogenic 996917 GRCh37: X:36122712-36122712
GRCh38: X:36104595-36104595
3 CXorf30 , CFAP47 NM_001304548.2(CFAP47):c.8668C>A (p.Pro2890Thr) SNV Pathogenic 996918 GRCh37: X:36368217-36368217
GRCh38: X:36350102-36350102

Expression for Spermatogenic Failure, X-Linked, 3

Search GEO for disease gene expression data for Spermatogenic Failure, X-Linked, 3.

Pathways for Spermatogenic Failure, X-Linked, 3

GO Terms for Spermatogenic Failure, X-Linked, 3

Sources for Spermatogenic Failure, X-Linked, 3

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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