AMHR2 gene related symptoms and diseases

All the information presented here about the AMHR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AMHR2 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Cryptorchidism Very Common - Between 80% and 100% cases
Hernia Very Common - Between 80% and 100% cases
Inguinal hernia Very Common - Between 80% and 100% cases
Infertility Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with AMHR2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hematuria
  • Bilateral cryptorchidism
  • Male infertility
  • Male pseudohermaphroditism
  • Abnormality of circulating hormone level
  • Abnormality of male internal genitalia
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Rare diseases associated to AMHR2 gene

Here you will find a list of rare diseases related to the AMHR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PERSISTENT MÜLLERIAN DUCT SYNDROME


Alternate names

PERSISTENT MÜLLERIAN DUCT SYNDROME Is also known as pseudohermaphroditism, male internal, female genital ducts in otherwise normal male, pmds, persistent mÜllerian derivatives, persistent oviduct syndrome, hernia uteri inguinale

Description

Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.

Most common symptoms of PERSISTENT MÜLLERIAN DUCT SYNDROME

  • Neoplasm
  • Cryptorchidism
  • Hernia
  • Inguinal hernia
  • Infertility


More info about PERSISTENT MÜLLERIAN DUCT SYNDROME

SOURCES: ORPHANET OMIM MESH


Potential gene panels for AMHR2 gene

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1

More info about this panel

46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel that also includes the following genes: SOX9 SRD5A2 SRY WT1 ZFPM2 ARX B3GLCT MAMLD1 CYB5A CYP11A1

More info about this panel

AMHR2. Detection of the deletion 27pb (c.1330_1356del) by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AMHR2 gene.

More info about this panel

AMHR2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AMHR2 gene.

More info about this panel

Persistent Mullerian duct syndrome type II (sequence analysis of AMHR2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the AMHR2 gene.

More info about this panel

Male Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Male Infertility Sequencing Panel with CNV Detection that also includes the following genes: SEMA3A SEMA3E FOXL2 BRDT SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel

Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2

More info about this panel

Persistent Mullerian duct syndrome type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AMHR2 gene.

More info about this panel

qGenEx Sex development disorders Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Sex development disorders that also includes the following genes: ROR2 SOX3 SOX9 SRD5A2 SRY STAR CEP41 TSPYL1 WNT4 WT1

More info about this panel

AMHR2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AMHR2 gene.

More info about this panel

Abnormal Genitalia/ Disorders of Sex Development Panel Panel

Finland.

By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4

More info about this panel

Persistent Mullerian duct syndrome type 2 Panel

Spain.

By Bioarray

This panel specifically test the AMHR2 gene.

More info about this panel

PERSISTENT MULLERIAN DUCT SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL PERSISTENT MULLERIAN DUCT SYNDROME that also includes the following genes: AMH AMHR2

More info about this panel

Persistent Mullerian Duct Syndrome , Sequencing AMHR2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the AMHR2 gene.

More info about this panel


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