46,xy Sex Reversal 7; Srxy7

Clinical Features

Phenotypes and symptoms related to 46,xy Sex Reversal 7; Srxy7

  • Primary amenorrhea
  • Hypoplasia of the uterus
  • Gonadal dysgenesis
  • Sex reversal
  • Gonadoblastoma
  • Streak ovary
  • Dysgerminoma
  • Gonadal dysgenesis, male
  • Hypoplasia of the fallopian tube
  • Abnormality of the epididymis

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.

Alternative names

46,xy Sex Reversal 7; Srxy7 Is also known as 46,xy sex reversal, partial or complete, dhh-related, gdxym, 46,xy gonadal dysgenesis, partial or complete, dhh-related, gonadal dysgenesis, xy, male-limited.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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46,xy Sex Reversal 7; Srxy7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
Specificity
2 %
Genes
100 %
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
Specificity
4 %
Genes
100 %
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
Specificity
4 %
Genes
100 %
DHH Gene Sequencing.

By GeneDx (United States).

DHH
Specificity
100 %
Genes
100 %
DHH. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

DHH
Specificity
100 %
Genes
100 %
DHH-related Disorders of Sex Development via DHH Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DHH
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Male Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %

We have 18 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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