Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Spermatogenic failure, X-linked, 3(SPGFX3)

MedGen UID:: 1784059
•Concept ID:: C5542347
•: Disease or Syndrome

Synonyms:	SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3

Gene (location): Gene(s) directly associated with this condition or phenotype.	CFAP47 (Xp21.1)

Monarch Initiative:	MONDO:0025354
OMIM®:	301059

Definition

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). [from OMIM]

Clinical features

From HPO

Male infertility

MedGen UID:: 5796
•Concept ID:: C0021364
•: Disease or Syndrome

The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.

See: Feature record | Search on this feature

Oligozoospermia

MedGen UID:: 678638
•Concept ID:: C0868910
•: Finding

Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.

See: Feature record | Search on this feature

Reduced sperm motility

MedGen UID:: 907698
•Concept ID:: C4082176
•: Finding

An abnormal reduction in the mobility of ejaculated sperm.

See: Feature record | Search on this feature

Absent sperm flagella

MedGen UID:: 1623855
•Concept ID:: C4539786
•: Finding

Sperm cells lacking flagella.

See: Feature record | Search on this feature

Short sperm flagella

MedGen UID:: 1623693
•Concept ID:: C4539787
•: Finding

Sperm cells with abnormally short flagella.

See: Feature record | Search on this feature

Coiled sperm flagella

MedGen UID:: 1611216
•Concept ID:: C4539789
•: Finding

Sperm cells whose flagella are twisted (coiled).

See: Feature record | Search on this feature

Irregularly shaped sperm tail

MedGen UID:: 1687959
•Concept ID:: C5233737
•: Finding

Irregular or changing caliber (diameter) along the tail of the sperm.

See: Feature record | Search on this feature

Abnormality of the genitourinary system

Recent clinical studies

Etiology

Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure.

Shen Y, Xu J, Yang X, Liu Y, Ma Y, Yang D, Dong Q, Yang Y
Biol Reprod 2017 Mar 1;96(3):610-616. doi: 10.1093/biolre/iox006. PMID: 28339631

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.

Lopes AM, Aston KI, Thompson E, Carvalho F, Gonçalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF
PLoS Genet 2013 Mar;9(3):e1003349. Epub 2013 Mar 21 doi: 10.1371/journal.pgen.1003349. PMID: 23555275 Free PMC Article

See all (2)

Diagnosis

Genomic testing for copy number and single nucleotide variants in spermatogenic failure.

Hardy J, Pollock N, Gingrich T, Sweet P, Ramesh A, Kuong J, Basar A, Jiang H, Hwang K, Vukina J, Jaffe T, Olszewska M, Kurpisz M, Yatsenko AN
J Assist Reprod Genet 2022 Sep;39(9):2103-2114. Epub 2022 Jul 18 doi: 10.1007/s10815-022-02538-5. PMID: 35849255 Free PMC Article

Evidence for the involvement of the proximal copy of the MAGEA9 gene in Xq28-linked CNV67 specific to spermatogenic failure.

Shen Y, Xu J, Yang X, Liu Y, Ma Y, Yang D, Dong Q, Yang Y
Biol Reprod 2017 Mar 1;96(3):610-616. doi: 10.1093/biolre/iox006. PMID: 28339631

See all (2)

MedGen

National Center for Biotechnology Information

Send to:

Spermatogenic failure, X-linked, 3(SPGFX3)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

Related information

Recent activity