Entry - #613957 - SPERMATOGENIC FAILURE 8; SPGF8 - OMIM

 
ICD+
# 613957

SPERMATOGENIC FAILURE 8; SPGF8


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
9q33.3 Spermatogenic failure 8 613957 AD 3 NR5A1 184757
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE
- Autosomal dominant
GENITOURINARY
Internal Genitalia (Male)
- Azoospermia
- Cryptozoospermia
- Severe oligospermia
- Moderate oligospermia (rare)
- Sperm counts less than 1 x 10(6) per mL (in most patients)
MOLECULAR BASIS
- Caused by mutation in the nuclear receptor subfamily 5, group A, member 1 gene (NR5A1, 184757.0016)
▲ Close
Spermatogenic failure - PS258150 - 110 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p34.3 Spermatogenic failure 83 AR 3 620354 DNALI1 602135
1p34.2 Spermatogenic failure 95 AR 3 620917 CFAP57 614259
1p31.1 Spermatogenic failure 2 AR 3 108420 MSH4 602105
1p22.1 ?Spermatogenic failure 21 AR 3 617644 BRDT 602144
1p12 ?Spermatogenic failure 55 AR 3 619380 SPAG17 616554
1q21.3 ?Spermatogenic failure 97 AR 3 621057 NUP210L 621033
2p23.3 Spermatogenic failure 80 AR 3 620222 DRC1 615288
2p13.1 Spermatogenic failure 48 AR 3 619108 M1AP 619098
2q11.2 ?Spermatogenic failure 26 AR 3 617961 TSGA10 607166
2q32.1 Spermatogenic failure 34 AR 3 618153 FSIP2 615796
2q33.1 ?Spermatogenic failure 68 AR 3 619805 C2CD6 619776
2q35 ?Spermatogenic failure 54 AR 3 619379 CATIP 619387
2q35 Spermatogenic failure 40 AR 3 618664 CFAP65 614270
3p22.2 Spermatogenic failure 37 AR 3 618429 TTC21A 611430
3p21.1 Spermatogenic failure 18 AR 3 617576 DNAH1 603332
3q13.2 Spermatogenic failure 20 AR 3 617593 CFAP44 617559
3q13.33 Spermatogenic failure 51 AR 3 619177 CFAP91 609910
3q26.31 ?Spermatogenic failure 6 AR 3 102530 SPATA16 609856
4p16.3 ?Spermatogenic failure 62 AR 3 619673 RNF212 612041
4p14 ?Spermatogenic failure 72 AR 3 619867 WDR19 608151
4q12 ?Spermatogenic failure 29 AR 3 618091 SPINK2 605753
4q22.3 Spermatogenic failure 70 AR 3 619828 PDHA2 179061
4q31.22 Spermatogenic failure 42 AR 3 618745 TTC29 618735
5p13.2 Spermatogenic failure 43 AR 3 618751 SPEF2 610172
6p21.33 Spermatogenic failure 74 AR 3 619937 MSH5 603382
6p21.31 Spermatogenic failure 90 AR 3 620744 ARMC12 620377
6p21.31 Spermatogenic failure 3 AD, AR 3 606766 SLC26A8 608480
6p21.2 Spermatogenic failure 46 AR 3 619095 DNAH8 603337
6q15 ?Spermatogenic failure 85 AR 3 620490 SPACA1 612739
6q21 Spermatogenic failure 38 AR 3 618433 ARMC2 618424
6q21 Spermatogenic failure 89 AR 3 620705 AK9 615358
6q25.3 Spermatogenic failure 57 AR 3 619528 PNLDC1 619529
7p12.2 ?Spermatogenic failure 66 AR 3 619799 ZPBP 608498
7q11.23 Spermatogenic failure 77 AR 3 620103 FKBP6 604839
7q11.23 Spermatogenic failure 94 AR 3 620850 CCDC146 619829
7q21.13 Spermatogenic failure 24 AR 3 617959 CFAP69 617949
7q22.1 Spermatogenic failure 61 AR 3 619672 STAG3 608489
7q36.1 Spermatogenic failure 50 AR 3 619145 XRCC2 600375
8p12 Spermatogenic failure 25 AR 3 617960 TEX15 605795
8p11.23 Spermatogenic failure 79 AR 3 620196 KCNU1 615215
8q22.2 Spermatogenic failure 64 AR 3 619696 FBXO43 609110
9p21.2 Spermatogenic failure 58 AR 3 619585 IFT74 608040
9p13.3 Spermatogenic failure 91 AR 3 620838 CCIN 603960
9q31.3 Spermatogenic failure 86 AR 3 620499 ACTL7A 604303
9q31.3 Spermatogenic failure 75 AR 3 619949 SHOC1 618038
9q33.3 Spermatogenic failure 8 AD 3 613957 NR5A1 184757
9q34.3 Spermatogenic failure 32 AD 3 618115 SOHLH1 610224
10q22.2 ?Spermatogenic failure 41 AR 3 618670 CFAP70 618661
10q25.1 Spermatogenic failure 19 AR 3 617592 CFAP43 617558
10q25.1 Spermatogenic failure 49 AR 3 619144 CFAP58 619129
10q26.11 Spermatogenic failure 12 AD 3 615413 NANOS1 608226
10q26.3 ?Spermatogenic failure 15 AR 3 616950 SYCE1 611486
11p15.4 Spermatogenic failure 65 AR 3 619712 DNHD1 617277
11p15.4 ?Spermatogenic failure 93 AR 3 620849 STK33 607670
11p14.1 Spermatogenic failure 76 AR 3 620084 CCDC34 612324
11q13.1 Spermatogenic failure 7 AR 3 612997 CATSPER1 606389
12p13.32 Spermatogenic failure 82 AR 3 620353 AKAP3 604689
12p13.31 Spermatogenic failure 92 AR 3 620848 LRRC23 620708
12p12.3 Spermatogenic failure 17 AR 3 617214 PLCZ1 608075
12q14.2 Spermatogenic failure 9 AR 3 613958 DPY19L2 613893
12q23.1 Spermatogenic failure 98 AR 3 621124 CFAP54 621121
12q23.2 Spermatogenic failure 4 AD 3 270960 SYCP3 604759
12q23.2 Pregnancy loss, recurrent, 4 AD 3 270960 SYCP3 604759
12q24.31 Spermatogenic failure 33 AR 3 618152 WDR66 618146
12q24.31 ?Spermatogenic failure 67 AR 3 619803 CCDC62 613481
12q24.31 Spermatogenic failure 56 AR 3 619515 DNAH10 605884
13q32.1 Spermatogenic failure 47 AR 3 619102 DZIP1 608671
14q13.2 Spermatogenic failure 36 AD 3 618420 PPP2R3C 615902
14q21.2 Spermatogenic failure 28 AR 3 618086 FANCM 609644
14q21.2 ?Spermatogenic failure 63 AR 3 619689 RPL10L 619655
14q23.1 Spermatogenic failure 52 AR 3 619202 C14orf39 617307
14q32.2 ?Spermatogenic failure 27 AR 3 617965 AK7 615364
14q32.33 ?Spermatogenic failure 30 AR 3 618110 TDRD9 617963
15q21.1 ?Spermatogenic failure 59 AR 3 619645 TERB2 617131
16p13.3 Spermatogenic failure 22 AR 3 617706 MEIOB 617670
16p13.3 Spermatogenic failure 10 AD 3 614822 SEPTIN12 611562
16q22.1 Spermatogenic failure 60 AR 3 619646 TERB1 617332
16q22.2 Spermatogenic failure 31 AR 3 618112 PMFBP1 618085
17p13.2 Spermatogenic failure 96 AR 3 621001 SPATA22 617673
17p13.2 ?Spermatogenic failure 14 AR 3 615842 ZMYND15 614312
17p13.1 Spermatogenic failure 45 AR 3 619094 DNAH2 603333
17p12 Spermatogenic failure 81 AR 3 620277 TEKT3 612683
17p12 Spermatogenic failure 71 AR 3 619831 ZSWIM7 614535
17q21.2 Spermatogenic failure 11 AD 3 615081 KLHL10 608778
17q22 Spermatogenic failure 23 AR 3 617707 TEX14 605792
17q24.1 Spermatogenic failure 44 AR 3 619044 CEP112 618980
17q25.1 Spermatogenic failure 35 AR 3 618341 QRICH2 618304
17q25.3 Spermatogenic failure 39 AR 3 618643 DNAH17 610063
18q11.2 ?Spermatogenic failure 13 AR 3 615841 TAF4B 601689
19p13.2 Spermatogenic failure 53 AR 3 619258 ACTL9 619251
19p13.11 Spermatogenic failure 78 AR 3 620170 IQCN 620160
19q13.2 Spermatogenic failure 69 AR 3 619826 GGN 609966
19q13.33 Spermatogenic failure 88 AR 3 620547 KASH5 618125
19q13.43 Spermatogenic failure 5 AR 3 243060 AURKC 603495
20p11.23 Spermatogenic failure 84 AR 3 620409 CFAP61 620381
20q11.21 Spermatogenic failure 16 AR 3 617187 SUN5 613942
20q13.33 Spermatogenic failure 1 AD 3 258150 SYCP2 604105
22q13.33 ?Spermatogenic failure 73 AR 3 619878 MOV10L1 605794
22q13.33 ?Spermatogenic failure 87 AR 3 620500 ACR 102480
Xp22.2 Spermatogenic failure, X-linked, 9 3 301137 RBBP7 300825
Xp21.1 Spermatogenic failure, X-linked 3 XLR 3 301059 CFAP47 301057
Xp11.23 Spermatogenic failure, X-linked, 5 XL 3 301099 SSX1 312820
Xq13.1 Spermatogenic failure, X-linked 2 XLR 3 309120 TEX11 300311
Xq13.1 Spermatogenic failure, X-linked, 4 XL 3 301077 GCNA 300369
Xq21.1 {Spermatogenic failure, X-linked, 8, susceptibility to} XL 3 301119 CYLC1 300768
Xq26.2 Spermatogenic failure, X-linked, 6 XL 3 301101 USP26 300309
Xq26.3 ?Spermatogenic failure, X-linked, 7 XLR 3 301106 CT55 301105
Yq11 Spermatogenic failure, Y-linked, 1 YL 4 400042 DELYq11 400042
Yq11.221 Spermatogenic failure, Y-linked, 2 YL 3 415000 USP9Y 400005
Not Mapped Spermatogenic failure, X-linked 1 XL 305700 SPGFX1 305700
▲ Close

▼ TEXT

A number sign (#) is used with this entry because of evidence that spermatogenic failure-8 (SPGF8) is caused by heterozygous mutation in the NR5A1 gene (184757) on chromosome 9q33.

For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

▼ Molecular Genetics

Bashamboo et al. (2010) analyzed the candidate gene NR5A1 in 315 men with idiopathic spermatogenic failure and identified heterozygous missense mutations in 7 of them (see, e.g., 184757.0016-184757.0018). The authors noted that except for 1 mutation-positive patient who had moderate oligozoospermia, NR5A1 mutations were associated with severe spermatogenic failure; no mutations were found in men with mild oligozoospermia (sperm counts of 10 to 20 x 10(6)/ml).


▼ REFERENCES

  1. Bashamboo, A., Ferraz-de-Souza, B., Lourenco, D., Lin, L., Sebire, N. J., Montjean, D., Bignon-Topalovic, J., Mandelbaum, J., Siffroi, J.-P., Christin-Maitre, S., Radhakrishna, U., Rouba, H., Ravel, C., Seeler, J., Achermann, J. C., McElreavey, K. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am. J. Hum. Genet. 87: 505-512, 2010. Note: Erratum. Am. J. Hum. Genet. 87: 736 only, 2010. [PubMed: 20887963, images, related citations] [Full Text]


Creation Date:
Marla J. F. O'Neill : 5/10/2011
Edit History:
carol : 08/30/2017
carol : 03/13/2012
terry : 12/9/2011
terry : 5/16/2011
carol : 5/11/2011
carol : 5/11/2011

# 613957

SPERMATOGENIC FAILURE 8; SPGF8


ORPHA: 399805;   DO: 0070169;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
9q33.3 Spermatogenic failure 8 613957 Autosomal dominant 3 NR5A1 184757

TEXT

A number sign (#) is used with this entry because of evidence that spermatogenic failure-8 (SPGF8) is caused by heterozygous mutation in the NR5A1 gene (184757) on chromosome 9q33.

For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Molecular Genetics

Bashamboo et al. (2010) analyzed the candidate gene NR5A1 in 315 men with idiopathic spermatogenic failure and identified heterozygous missense mutations in 7 of them (see, e.g., 184757.0016-184757.0018). The authors noted that except for 1 mutation-positive patient who had moderate oligozoospermia, NR5A1 mutations were associated with severe spermatogenic failure; no mutations were found in men with mild oligozoospermia (sperm counts of 10 to 20 x 10(6)/ml).


REFERENCES

  1. Bashamboo, A., Ferraz-de-Souza, B., Lourenco, D., Lin, L., Sebire, N. J., Montjean, D., Bignon-Topalovic, J., Mandelbaum, J., Siffroi, J.-P., Christin-Maitre, S., Radhakrishna, U., Rouba, H., Ravel, C., Seeler, J., Achermann, J. C., McElreavey, K. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am. J. Hum. Genet. 87: 505-512, 2010. Note: Erratum. Am. J. Hum. Genet. 87: 736 only, 2010. [PubMed: 20887963] [Full Text: https://doi.org/10.1016/j.ajhg.2010.09.009]


Creation Date:
Marla J. F. O'Neill : 5/10/2011

Edit History:
carol : 08/30/2017
carol : 03/13/2012
terry : 12/9/2011
terry : 5/16/2011
carol : 5/11/2011
carol : 5/11/2011



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 15, 2025