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.

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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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: ORPHANET OMIM

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

SOURCES: MESH OMIM

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


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

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

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

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

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

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

Tetralogy of Fallot Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ZFPM2 gene.

More info about this panel

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

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

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

Single gene testing ZFPM2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ZFPM2 gene.

More info about this panel

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

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

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

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

ZFPM2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZFPM2 gene.

More info about this panel

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

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

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


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