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Spermatogenic failure, X-linked, 3(SPGFX3)

MedGen UID:
1784059
Concept ID:
C5542347
Disease or Syndrome
Synonyms: SPERMATOGENIC FAILURE, X-LINKED, 3; SPGFX3
 
Gene (location): 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.
Oligozoospermia
MedGen UID:
18162
Concept ID:
C0028960
Disease or Syndrome
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Reduced sperm motility
MedGen UID:
98339
Concept ID:
C0403823
Disease or Syndrome
An abnormal reduction in the mobility of ejaculated sperm.
Absent sperm flagella
MedGen UID:
1623855
Concept ID:
C4539786
Finding
Sperm cells lacking flagella.
Short sperm flagella
MedGen UID:
1623693
Concept ID:
C4539787
Finding
Sperm cells with abnormally short flagella.
Coiled sperm flagella
MedGen UID:
1611216
Concept ID:
C4539789
Finding
Sperm cells whose flagella are twisted (coiled).
Irregularly shaped sperm tail
MedGen UID:
1687959
Concept ID:
C5233737
Finding
Irregular or changing caliber (diameter) along the tail of the sperm.

Recent clinical studies

Etiology

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
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: 23555275Free PMC Article

Diagnosis

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: 35849255Free PMC Article
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

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