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
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
Search interest in AMHR2
Potential gene panels for AMHR2 gene
46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Sequencing Panel Panel
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 panel46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis Deletion/Duplication Panel Panel
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 panelAMHR2. Detection of the deletion 27pb (c.1330_1356del) by sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AMHR2 gene.
More info about this panelAMHR2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the AMHR2 gene.
More info about this panelPersistent Mullerian duct syndrome type II (sequence analysis of AMHR2 gene) Panel
By CGC Genetics
This panel specifically test the AMHR2 gene.
More info about this panelMale Infertility Sequencing Panel with CNV Detection Panel
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 panelDisorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
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 panelDisorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
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 panelPersistent Mullerian duct syndrome type 2 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AMHR2 gene.
More info about this panelqGenEx Sex development disorders Panel
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 panelAMHR2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AMHR2 gene.
More info about this panelAbnormal Genitalia/ Disorders of Sex Development Panel Panel
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 panelPersistent Mullerian duct syndrome type 2 Panel
By Bioarray
This panel specifically test the AMHR2 gene.
More info about this panelPERSISTENT MULLERIAN DUCT SYNDROME Panel
By Laboratorio de Genetica Clinica SL PERSISTENT MULLERIAN DUCT SYNDROME that also includes the following genes: AMH AMHR2
More info about this panelPersistent Mullerian Duct Syndrome , Sequencing AMHR2 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AMHR2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRICKLE2 EHHADH NEB ATXN3 AKR1D1 COMT GEN1