ZFPM2 gene related symptoms and diseases
All the information presented here about the ZFPM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ZFPM2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Growth delay | Uncommon - Between 30% and 50% cases |
| Clinodactyly | Uncommon - Between 30% and 50% cases |
| Hernia | Uncommon - Between 30% and 50% cases |
| Posterolateral diaphragmatic hernia | Uncommon - Between 30% and 50% cases |
| Ambiguous genitalia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ZFPM2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Gonadal dysgenesis
- Overriding aorta
- Abnormal heart morphology
- Congenital diaphragmatic hernia
- Abnormality of cardiovascular system morphology
- Ventricular septal defect
- Respiratory distress
- Cryptorchidism
And 103 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ZFPM2 gene
Here you will find a list of rare diseases related to the ZFPM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TETRALOGY OF FALLOT
Description
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
Most common symptoms of TETRALOGY OF FALLOT
- Growth delay
- Muscle weakness
- Cryptorchidism
- Anemia
- Brachydactyly
More info about TETRALOGY OF FALLOT
CONGENITAL DIAPHRAGMATIC HERNIA
Alternate names
CONGENITAL DIAPHRAGMATIC HERNIA Is also known as hemidiaphragm, agenesis of, dih, diaphragm, unilateral agenesis of, hernia, congenital diaphragmatic, hcd, cdh, diaphragmatic defect, congenital
Description
Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.
Most common symptoms of CONGENITAL DIAPHRAGMATIC HERNIA
- Global developmental delay
- Hearing impairment
- Growth delay
- Hypertension
- Respiratory distress
More info about CONGENITAL DIAPHRAGMATIC HERNIA
DIAPHRAGMATIC HERNIA 3; DIH3
Most common symptoms of DIAPHRAGMATIC HERNIA 3; DIH3
- Ventricular septal defect
- Hernia
- Congenital diaphragmatic hernia
- Overriding aorta
- Posterolateral diaphragmatic hernia
More info about DIAPHRAGMATIC HERNIA 3; DIH3
46,XY SEX REVERSAL 9; SRXY9
Alternate names
46,XY SEX REVERSAL 9; SRXY9 Is also known as 46,xy sex reversal, zfpm2-related
Most common symptoms of 46,XY SEX REVERSAL 9; SRXY9
- Hydrocephalus
- Clinodactyly
- Abnormal heart morphology
- Autism
- Autistic behavior
More info about 46,XY SEX REVERSAL 9; SRXY9
SOURCES: OMIM
46,XY PARTIAL GONADAL DYSGENESIS
Alternate names
46,XY PARTIAL GONADAL DYSGENESIS Is also known as 46,xy partial testicular dysgenesis, 46,xy pgd
Description
46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype.
Most common symptoms of 46,XY PARTIAL GONADAL DYSGENESIS
- Cryptorchidism
- Abnormality of cardiovascular system morphology
- Hypospadias
- Delayed skeletal maturation
- Osteoporosis
More info about 46,XY PARTIAL GONADAL DYSGENESIS
SOURCES: ORPHANET
Search interest in ZFPM2
Potential gene panels for ZFPM2 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 United States.
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 United States.
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 United States.
Hypospadias Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panel United States.
Isolated Nonsyndromic Congenital Heart Defects via ZFPM2 (FOG2) Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the ZFPM2 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
Heart Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB
More info about this panel Germany.
Tetralogy of Fallot Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ZFPM2 gene.
More info about this panel Germany.
Diaphragmatic hernia type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ZFPM2 gene.
More info about this panel Germany.
Congenital heart defects panel Panel
Germany.
By Centogene AG - the Rare Disease Company Congenital heart defects panel that also includes the following genes: TBX1 TBX20 CRELD1 ZFPM2 CFC1 CITED2 NKX2-5 FOXH1 GATA4 GATA6
More info about this panel Germany.
Congenital Heart Defects Panel Panel
Germany.
By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1
More info about this panel Germany.
Single gene testing ZFPM2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ZFPM2 gene.
More info about this panel Germany.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Congenital heart diseases Panel Panel
Spain.
By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2
More info about this panel Spain.
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 Spain.
Invitae Congenital Heart Disease Panel Panel
United States.
By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL
More info about this panel United States.
ZFPM2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ZFPM2 gene.
More info about this panel United States.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
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 Finland.
CONGENITAL HEART DEFECTS: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS: NGS PANEL that also includes the following genes: TBX1 TBX20 TBX5 ZIC3 ACTC1 CRELD1 ZFPM2 TAB2 CFC1 CITED2
More info about this panel Spain.
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