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Absent sperm flagella

MedGen UID:
1623855
Concept ID:
C4539786
Finding
HPO: HP:0032558

Definition

Sperm cells lacking flagella. [from HPO]

Term Hierarchy

Conditions with this feature

Spermatogenic failure 18
MedGen UID:
1617309
Concept ID:
C4539783
Disease or Syndrome
Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella (Ben Khelifa et al., 2014). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 19
MedGen UID:
1614356
Concept ID:
C4539818
Disease or Syndrome
Spermatogenic failure-19 is characterized by multiple morphologic abnormalities of the flagella (MMAF), 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).
Spermatogenic failure 20
MedGen UID:
1621256
Concept ID:
C4539824
Disease or Syndrome
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).
Spermatogenic failure 27
MedGen UID:
1634748
Concept ID:
C4693784
Disease or Syndrome
Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018). For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 33
MedGen UID:
1648473
Concept ID:
C4748395
Disease or Syndrome
Spermatogenic failure-33 (SPGF33) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present (Kherraf et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 34
MedGen UID:
1648297
Concept ID:
C4748403
Disease or Syndrome
Spermatogenic failure-34 (SPGF34) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Irregular-caliber, short, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of the axoneme are also present (Martinez et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 35
MedGen UID:
1679765
Concept ID:
C5193038
Disease or Syndrome
Spermatogenic failure-35 (SPGF35) is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in spermatozoa with severely impaired motility and infertility. Short, thickened, and coiled flagella are primarily observed, as well as absent flagella, and abnormalities of axonemal composition are also present (Shen et al., 2019).
Spermatogenic failure 37
MedGen UID:
1677534
Concept ID:
C5193091
Disease or Syndrome
Spermatogenic failure-37 (SPGF37) is characterized by primary male infertility with asthenoteratozoospermia. Spermatozoa exhibit severely reduced motility due to multiple morphologic abnormalities of the flagella (MMAF), primarily consisting of short or absent flagella. Neck defects at the head-tail junction are frequently seen (Liu et al., 2019). For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 38
MedGen UID:
1680356
Concept ID:
C5193095
Disease or Syndrome
Spermatogenic failure-38 (SPGF38) is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella (MMAF). Spermatozoa show total sperm motility below 10% and exhibit morphologic anomalies including short, absent, coiled, bent, or irregular-caliber flagella (Coutton et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 39
MedGen UID:
1684778
Concept ID:
C5231438
Disease or Syndrome
Spermatogenic failure-39 (SPGF39) is characterized by infertility due to asthenozoospermia. In some patients, spermatozoa exhibit multiple morphologic anomalies of the sperm flagellum (MMAF), including short, absent, irregularly shaped, and coiled flagella. Abnormalities of the sperm head and midpiece have also been observed, and ultrastructural analysis shows a lack of the outer dynein arms (ODAs) in sperm cells. In other patients, sperm do not exhibit MMAF, and ultrastructural analysis shows that many flagella lack 1 or more of microtubule doublets (MTDs) 4 to 7 at the principal piece or end piece; however, ODAs are present at the remaining MTDs (Whitfield et al., 2019; Zhang et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 40
MedGen UID:
1684662
Concept ID:
C5231451
Disease or Syndrome
Spermatogenic failure-40 (SPGF40) is characterized by multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Patient spermatozoa may also show morphologic defects of the sperm head, with acrosomal hypoplasia or aplasia (Wang et al., 2019; Li et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 42
MedGen UID:
1684744
Concept ID:
C5231488
Disease or Syndrome
Spermatogenic failure-42 (SPGF42) is characterized by infertility and spermatozoa with almost no progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Some spermatozoa also show abnormalities of the head, acrosome, midpiece, or endpiece (Lores et al., 2019; Liu et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 43
MedGen UID:
1684830
Concept ID:
C5231490
Disease or Syndrome
Spermatogenic failure-43 (SPGF43) is characterized by infertility and spermatozoa lacking progressive motility due to multiple morphologic abnormalities of the flagella (MMAF), including short, absent, coiled, irregular-caliber, and/or bent flagella. Most flagella lack the central pair (9+0 configuration) on ultrastructural analysis (Liu et al., 2019; Sha et al., 2019; Liu et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 45
MedGen UID:
1776221
Concept ID:
C5436791
Disease or Syndrome
Spermatogenic failure-45 (SPGF45) is characterized by male infertility due to severe teratozoospermia. Sperm in affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are short, absent, coiled, angulated, and/or of irregular caliber; some sperm also show abnormalities of the head. Ultrastructural analysis shows severe disruption of the axonemal complex and mitochondrial sheath (Li et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 46
MedGen UID:
1726728
Concept ID:
C5436799
Disease or Syndrome
Spermatogenic failure-46 (SPGF46) is characterized by male infertility due to asthenoteratozoospermia. Sperm of affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are absent, short, coiled, angulated, and/or of irregular caliber. Ultrastructural analysis shows disorganization of axonemal and periaxonemal structures (Liu et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 47
MedGen UID:
1721477
Concept ID:
C5436818
Disease or Syndrome
Spermatogenic failure-47 (SPGF47) is characterized by male infertility due to asthenoteratospermia. Affected individuals have reduced sperm concentrations and spermatozoa are immotile, with short or absent flagella as well as centriolar abnormalities (Lv et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failure 49
MedGen UID:
1742668
Concept ID:
C5436887
Disease or Syndrome
Spermatogenic failure-49 (SPGF49) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), primarily coiled and short flagella, with markedly reduced or no progressive motility (He et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see 258150.
Spermatogenic failure, X-linked, 3
MedGen UID:
1784059
Concept ID:
C5542347
Disease or Syndrome
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).
Spermatogenic failure 51
MedGen UID:
1780365
Concept ID:
C5543033
Disease or Syndrome
Spermatogenic failure-51 (SPGF51) is characterized by male infertility due to severe asthenoteratozoospermia. Patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including absent, short, bent, coiled, and irregular-caliber tails, resulting in severely reduced to absent motility. Abnormalities of the sperm head, base, and acrosome have also been observed (Martinez et al., 2020). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 56
MedGen UID:
1794188
Concept ID:
C5561978
Disease or Syndrome
Spermatogenic failure-56 (SPGF56) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), resulting in severely reduced sperm motility (Tu et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 65
MedGen UID:
1794277
Concept ID:
C5562067
Disease or Syndrome
Spermatogenic failure-65 (SPGF65) is characterized by male infertility due to asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent, and patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including coiled, irregular-caliber, short, and absent flagella. Abnormalities of the flagellar midpiece are also present (Tan et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 (258150).
Spermatogenic failure 72
MedGen UID:
1803118
Concept ID:
C5676980
Disease or Syndrome
Spermatogenic failure-72 (SPGF72) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including coiled, short, angulated, absent, and irregular-caliber flagella, resulting in lack of sperm motility (Ni et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 76
MedGen UID:
1824009
Concept ID:
C5774236
Disease or Syndrome
Spermatogenic failure-76 (SPGF76) is characterized by male infertility due to oligoasthenoteratozoospermia. Multiple morphologic abnormalities of the flagella (MMAF) have been observed, including short, absent, and irregular caliber flagella. Ultrastructural anomalies include disordered outer dense fibers and abnormal 9+2 microtubular structures (Cong et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 80
MedGen UID:
1824074
Concept ID:
C5774301
Disease or Syndrome
Spermatogenic failure-80 (SPGF80) is characterized by male infertility due to multiple morphologic abnormalities of the flagella (MMAF), including short, coiled, absent, and irregular-caliber flagella, with correspondingly reduced or absent progressive motility of sperm. Abnormalities of the sperm head have also been observed. Severe axonemal disorganization is evident on transmission electron microscopy (Zhang et al., 2021). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure, X-linked, 5
MedGen UID:
1840194
Concept ID:
C5829558
Disease or Syndrome
X-linked spermatogenic failure-5 (SPGFX5) is characterized by male infertility due to asthenoteratozoospermia. Patient sperm shows reduced or absent progressive motility, and multiple morphologic abnormalities of the flagella (MMAF) are observed, including short, coiled, irregular caliber, absent, and/or angulated flagella. Pregnancy may be achieved by intracytoplasmic sperm injection (ICSI) (Liu et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 82
MedGen UID:
1841104
Concept ID:
C5830468
Disease or Syndrome
Spermatogenic failure-82 (SPGF82) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (Liu et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).
Spermatogenic failure 84
MedGen UID:
1841198
Concept ID:
C5830562
Disease or Syndrome
Spermatogenic failure-84 (SPGF84) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), including irregular-caliber, bent, coiled, absent, or short tails, resulting in severely reduced motility. Some patients also have a reduced sperm count (Liu et al., 2021; Hu et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 (258150).
Ciliary dyskinesia, primary, 51
MedGen UID:
1841244
Concept ID:
C5830608
Disease or Syndrome
Primary ciliary dyskinesia-51 (CILD51) is characterized by male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), resulting in severely reduced progressive motility. Some men also have a low sperm count. In addition, affected individuals experience chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections, and some exhibit dextrocardia and/or situs inversus (Guo et al., 2021). For a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).

Recent clinical studies

Etiology

Braham A, Ghedir H, Ben Khedher MB, Ajina M, Saad A, Ibala-Romdhane S
Hum Fertil (Camb) 2023 Dec;26(6):1429-1438. Epub 2023 Sep 6 doi: 10.1080/14647273.2023.2251679. PMID: 37671855
Li Q, Wang Y, Zheng W, Guo J, Zhang S, Gong F, Lu GX, Lin G, Dai J
Hum Reprod 2023 Jul 5;38(7):1390-1398. doi: 10.1093/humrep/dead079. PMID: 37140151
Dai S, Liang Y, Liu M, Yang Y, Liu H, Shen Y
Mol Genet Genomic Med 2022 Dec;10(12):e2078. Epub 2022 Nov 8 doi: 10.1002/mgg3.2078. PMID: 36346162Free PMC Article
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article
Liu C, Miyata H, Gao Y, Sha Y, Tang S, Xu Z, Whitfield M, Patrat C, Wu H, Dulioust E, Tian S, Shimada K, Cong J, Noda T, Li H, Morohoshi A, Cazin C, Kherraf ZE, Arnoult C, Jin L, He X, Ray PF, Cao Y, Touré A, Zhang F, Ikawa M
Am J Hum Genet 2020 Aug 6;107(2):330-341. Epub 2020 Jul 2 doi: 10.1016/j.ajhg.2020.06.004. PMID: 32619401Free PMC Article

Diagnosis

Martinez G, Barbotin AL, Cazin C, Wehbe Z, Boursier A, Amiri-Yekta A, Daneshipour A, Hosseini SH, Rives N, Feraille A, Thierry-Mieg N, Bidart M, Satre V, Arnoult C, Ray PF, Kherraf ZE, Coutton C
Int J Mol Sci 2023 Jan 29;24(3) doi: 10.3390/ijms24032559. PMID: 36768883Free PMC Article
Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
Am J Hum Genet 2022 Jan 6;109(1):157-171. Epub 2021 Dec 20 doi: 10.1016/j.ajhg.2021.11.022. PMID: 34932939Free PMC Article
Ferreux L, Bourdon M, Chargui A, Schmitt A, Stouvenel L, Lorès P, Ray P, Lousqui J, Pocate-Cheriet K, Santulli P, Dulioust E, Toure A, Patrat C
Hum Reprod 2021 Oct 18;36(11):2848-2860. doi: 10.1093/humrep/deab200. PMID: 34529793
Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, Gao Y, Wu H, Lv M, Gu Y, Lu S, Liu C, Tian S, Meng L, Wang W, Tan C, Nie H, Li D, Zhang H, Gong F, Hu L, Lu G, Xu W, Lin G, Zhang F, Cao Y, Tan YQ
Am J Hum Genet 2021 Aug 5;108(8):1466-1477. Epub 2021 Jul 7 doi: 10.1016/j.ajhg.2021.06.010. PMID: 34237282Free PMC Article
De Braekeleer M, Nguyen MH, Morel F, Perrin A
J Assist Reprod Genet 2015 Apr;32(4):615-23. Epub 2015 Feb 25 doi: 10.1007/s10815-015-0433-2. PMID: 25711835Free PMC Article

Therapy

Li K, Wang G, Lv M, Wang J, Gao Y, Tang F, Xu C, Yang W, Yu H, Shao Z, Geng H, Tan Q, Shen Q, Tang D, Ni X, Wang T, Song B, Wu H, Huo R, Zhang Z, Xu Y, Zhou P, Tao F, Wei Z, He X, Cao Y
J Assist Reprod Genet 2022 Jan;39(1):251-259. Epub 2021 Oct 16 doi: 10.1007/s10815-021-02306-x. PMID: 34657236Free PMC Article
Ferreux L, Bourdon M, Chargui A, Schmitt A, Stouvenel L, Lorès P, Ray P, Lousqui J, Pocate-Cheriet K, Santulli P, Dulioust E, Toure A, Patrat C
Hum Reprod 2021 Oct 18;36(11):2848-2860. doi: 10.1093/humrep/deab200. PMID: 34529793
Fauque P, Albert M, Serres C, Viallon V, Davy C, Epelboin S, Chalas C, Jouannet P, Patrat C
Reprod Biomed Online 2009 Sep;19(3):326-36. doi: 10.1016/s1472-6483(10)60166-6. PMID: 19778477

Prognosis

Tian S, Tu C, He X, Meng L, Wang J, Tang S, Gao Y, Liu C, Wu H, Zhou Y, Lv M, Lin G, Jin L, Cao Y, Tang D, Zhang F, Tan YQ
J Med Genet 2023 Aug;60(8):827-834. Epub 2023 Jan 2 doi: 10.1136/jmg-2022-108887. PMID: 36593121
Dai S, Liang Y, Liu M, Yang Y, Liu H, Shen Y
Mol Genet Genomic Med 2022 Dec;10(12):e2078. Epub 2022 Nov 8 doi: 10.1002/mgg3.2078. PMID: 36346162Free PMC Article
Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
Am J Hum Genet 2022 Jan 6;109(1):157-171. Epub 2021 Dec 20 doi: 10.1016/j.ajhg.2021.11.022. PMID: 34932939Free PMC Article
Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, Gao Y, Wu H, Lv M, Gu Y, Lu S, Liu C, Tian S, Meng L, Wang W, Tan C, Nie H, Li D, Zhang H, Gong F, Hu L, Lu G, Xu W, Lin G, Zhang F, Cao Y, Tan YQ
Am J Hum Genet 2021 Aug 5;108(8):1466-1477. Epub 2021 Jul 7 doi: 10.1016/j.ajhg.2021.06.010. PMID: 34237282Free PMC Article
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article

Clinical prediction guides

Li Q, Wang Y, Zheng W, Guo J, Zhang S, Gong F, Lu GX, Lin G, Dai J
Hum Reprod 2023 Jul 5;38(7):1390-1398. doi: 10.1093/humrep/dead079. PMID: 37140151
Tian S, Tu C, He X, Meng L, Wang J, Tang S, Gao Y, Liu C, Wu H, Zhou Y, Lv M, Lin G, Jin L, Cao Y, Tang D, Zhang F, Tan YQ
J Med Genet 2023 Aug;60(8):827-834. Epub 2023 Jan 2 doi: 10.1136/jmg-2022-108887. PMID: 36593121
Tan C, Meng L, Lv M, He X, Sha Y, Tang D, Tan Y, Hu T, He W, Tu C, Nie H, Zhang H, Du J, Lu G, Fan LQ, Cao Y, Lin G, Tan YQ
Am J Hum Genet 2022 Jan 6;109(1):157-171. Epub 2021 Dec 20 doi: 10.1016/j.ajhg.2021.11.022. PMID: 34932939Free PMC Article
Tu C, Cong J, Zhang Q, He X, Zheng R, Yang X, Gao Y, Wu H, Lv M, Gu Y, Lu S, Liu C, Tian S, Meng L, Wang W, Tan C, Nie H, Li D, Zhang H, Gong F, Hu L, Lu G, Xu W, Lin G, Zhang F, Cao Y, Tan YQ
Am J Hum Genet 2021 Aug 5;108(8):1466-1477. Epub 2021 Jul 7 doi: 10.1016/j.ajhg.2021.06.010. PMID: 34237282Free PMC Article
Liu C, Tu C, Wang L, Wu H, Houston BJ, Mastrorosa FK, Zhang W, Shen Y, Wang J, Tian S, Meng L, Cong J, Yang S, Jiang Y, Tang S, Zeng Y, Lv M, Lin G, Li J, Saiyin H, He X, Jin L, Touré A, Ray PF, Veltman JA, Shi Q, O'Bryan MK, Cao Y, Tan YQ, Zhang F
Am J Hum Genet 2021 Feb 4;108(2):309-323. Epub 2021 Jan 19 doi: 10.1016/j.ajhg.2021.01.002. PMID: 33472045Free PMC Article

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