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.
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
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
Search interest in DHH
Potential gene panels for DHH gene
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
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 panel46,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 panelDHH Gene Sequencing Panel
By GeneDx
This panel specifically test the DHH gene.
More info about this panelDHH. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DHH gene.
More info about this panelDHH-related Disorders of Sex Development via DHH Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the DHH gene.
More info about this panelFemale Infertility Sequencing Panel with CNV Detection Panel
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 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 panelAmbiguous Genitalia Sequencing Panel with CNV Detection Panel
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 panel46,XY gonadal dysgenesis, partial, with minifascicular neuropathy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the DHH gene.
More info about this panelAllNeuro panel Panel
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 panel46XY partial gonadal dysgenesis, with minifascicular neuropathy Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the DHH gene.
More info about this panel46XY sex reversal 7 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the DHH 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 panel46XY partial gonadal dysgenesis, with minifascicular neuropathy Panel
By MedGene
This panel specifically test the DHH gene.
More info about this panel46XY sex reversal 7 Panel
By MedGene
This panel specifically test the DHH gene.
More info about this panelInvitae Disorders of Male Sex Development Panel Panel
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 panelDHH Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DHH 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 panel46,XY complete gonadal dysgenesis Panel
By Bioarray
This panel specifically test the DHH gene.
More info about this panel46XY Sex Reversal Type 7 , Sequencing DHH Panel
By Reference Laboratory Genetics
This panel specifically test the DHH gene.
More info about this panelGonadal Dysgenesis/ Agenesis , Panel Massive Sequencing (NGS) SRY, NR5A1, DHH, AK2 Panel
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 panelTempus xO assay Panel
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 panelNonsyndromic Disorders of Testicular Development: gene sequencing panel Panel
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
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