DHH gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to DHH gene

Symptoms // Phenotype % Cases
Hypoplasia of the uterus Very Common - Between 80% and 100% cases
Primary amenorrhea Very Common - Between 80% and 100% cases
Gonadoblastoma Very Common - Between 80% and 100% cases
Gonadal dysgenesis Very Common - Between 80% and 100% cases
Gonadal dysgenesis, male Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

  • Streak ovary
  • Testicular dysgenesis
  • Abnormality of female external genitalia
  • Sex reversal
  • Infertility
  • Not very common - Between 30% and 50% cases

  • Distal sensory loss of all modalities
  • Abnormality of peripheral nerves
  • Sensorimotor neuropathy

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DHH gene

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


46,XY COMPLETE GONADAL DYSGENESIS


Alternate names

46,XY COMPLETE GONADAL DYSGENESIS Is also known as 46,xy sex reversal, sry-related, 46,xy pure gonadal dysgenesis, 46,xy gonadal dysgenesis, complete, sry-related, 46,xy cgd, swyer syndrome

Description

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.

Most common symptoms of 46,XY COMPLETE GONADAL DYSGENESIS

  • Neoplasm
  • Hypospadias
  • Infertility
  • Amenorrhea
  • Primary amenorrhea


More info about 46,XY COMPLETE GONADAL DYSGENESIS

SOURCES: OMIM ORPHANET

46,XY SEX REVERSAL 7; SRXY7


Alternate 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

Most common symptoms of 46,XY SEX REVERSAL 7; SRXY7

  • Primary amenorrhea
  • Hypoplasia of the uterus
  • Gonadal dysgenesis
  • Sex reversal
  • Gonadoblastoma


More info about 46,XY SEX REVERSAL 7; SRXY7

SOURCES: OMIM

46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME


Description

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.

Most common symptoms of 46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME

  • Skeletal muscle atrophy
  • Pes cavus
  • Distal muscle weakness
  • Infertility
  • Polyneuropathy


More info about 46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME

SOURCES: ORPHANET OMIM MESH


Potential gene panels for DHH gene

Abnormal/Ambiguous Genitalia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41

More info about this panel

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

DHH Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the DHH gene.

More info about this panel

DHH. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the DHH gene.

More info about this panel

DHH-related Disorders of Sex Development via DHH Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DHH gene.

More info about this panel

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

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

Ambiguous Genitalia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2

More info about this panel

46,XY gonadal dysgenesis, partial, with minifascicular neuropathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DHH gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

46XY partial gonadal dysgenesis, with minifascicular neuropathy Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the DHH gene.

More info about this panel

46XY sex reversal 7 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the DHH 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

46XY partial gonadal dysgenesis, with minifascicular neuropathy Panel

Slovakia.

By MedGene

This panel specifically test the DHH gene.

More info about this panel

46XY sex reversal 7 Panel

Slovakia.

By MedGene

This panel specifically test the DHH gene.

More info about this panel

Invitae Disorders of Male Sex Development Panel Panel

United States.

By Invitae Invitae Disorders of Male Sex Development Panel that also includes the following genes: SRD5A2 SRY WT1 DHH AR MAP3K1 NR0B1 NR5A1

More info about this panel

DHH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DHH 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

46,XY complete gonadal dysgenesis Panel

Spain.

By Bioarray

This panel specifically test the DHH gene.

More info about this panel

46XY Sex Reversal Type 7 , Sequencing DHH Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DHH gene.

More info about this panel

Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 Panel

Spain.

By Reference Laboratory Genetics Gonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 that also includes the following genes: SRY DHH AK2 NR5A1

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Nonsyndromic Disorders of Testicular Development: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Disorders of Testicular Development: gene sequencing panel that also includes the following genes: SRY DHH MAP3K1 NR5A1

More info about this panel


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