Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.

Genes related to Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation

NR5A1
CFTR
FANCM
XRCC2
TAF4B
ZMYND15
SYCE1
MEIOB
TEX11
SYCP3
TDRD9
KLHL10
TEX15
NANOS1
SOHLH1

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Clinical Features

Phenotypes and symptoms related to Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation

Decreased testicular size
Azoospermia
Increased circulating gonadotropin level
Abnormal spermatogenesis
Obstructive azoospermia
Non-obstructive azoospermia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation extracted from public data.

Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation Experts map

Current Researchs and researchers

POISSY — Pr François VIALARD
Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory
- Institution/s:
  — Histologie embryologie, biologie de la reproduction, cytogénétique et génétique médicale, Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
  — Service histo-embryologie, cytogénétique, génétique médicale et biologie de la reproduction, Centre hospitalier intercommunal Poissy-Saint-Germain-en-Laye
- Research area/topic::
  Identification and characterization of gene mutations in patients with azoospermia by maturation

Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ovarian Insufficiency. By Center for Human Genetics, Inc (United States). NR5A1 Specificity 100 % Genes 7 %
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 7 %
Premature Ovarian Failure Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1 Specificity 10 % Genes 7 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...) View the complete list with 6 more genes Panel complete gene list SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3, AR, LHCGR, MAP3K1, NR5A1, OPHN1, ATRX Specificity 4 % Genes 7 %
Hypospadias Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...) View the complete list with 41 more genes Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 Specificity 2 % Genes 7 %
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3 , (...) View the complete list with 6 more genes Panel complete gene list SOX9, SRD5A2, SRY, WT1, ZFPM2, ARX, B3GLCT, MAMLD1, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, DYNC2H1, AKR1C2, GATA4, AMH, AMHR2, HCCS, HSD17B3, AR, LHCGR, MAP3K1, NR5A1, OPHN1, ATRX Specificity 4 % Genes 7 %
46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). WNT4, WT1, PSMC3IP, B3GLCT, RSPO1, CYP11B1, CYP19A1, HCCS, NR5A1 Specificity 12 % Genes 7 %
Premature Ovarian Failure Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1 Specificity 10 % Genes 7 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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