BDNF gene related symptoms and diseases

All the information presented here about the BDNF 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 BDNF gene

Symptoms // Phenotype % Cases
Obesity Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
Sleep apnea Uncommon - Between 30% and 50% cases
Abnormal autonomic nervous system physiology Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BDNF gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Increased body weight
  • Aganglionic megacolon
  • Abnormal lung morphology
  • Abnormality of the cardiovascular system
  • Cyanosis
  • Postural instability
  • Apnea
  • Neuroblastoma

And 79 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BDNF gene

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


WAGR SYNDROME


Alternate names

WAGR SYNDROME Is also known as del(11)(p13), chromosome 11p13 deletion syndrome, wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome, monosomy 11p13, deletion 11p13, wagr syndrome

Description

WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.

Most common symptoms of WAGR SYNDROME

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


More info about WAGR SYNDROME

SOURCES: OMIM ORPHANET

ONDINE SYNDROME


Alternate names

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome, autonomic control, congenital failure of, central congenital hypoventilation syndrome, ondine curse, congenital, cchs, ondine curse

Description

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

Most common symptoms of ONDINE SYNDROME

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


More info about ONDINE SYNDROME

SOURCES: ORPHANET OMIM

BULIMIA NERVOSA, SUSCEPTIBILITY TO; BULN


Alternate names

BULIMIA NERVOSA, SUSCEPTIBILITY TO; BULN Is also known as bn

Description

Bulimia nervosa (BN) is a psychiatric disorder characterized by episodes of binge-eating (eating an unusually large amount of food in a discrete period of time and feeling out of control), compensatory behavior (e.g., self-induced vomiting or laxative abuse), and over-concern with weight and shape.Eating disorders such as bulimia nervosa are complex disorders that can be influenced by many genes.

Most common symptoms of BULIMIA NERVOSA, SUSCEPTIBILITY TO; BULN

  • Vomiting
  • Bulimia


More info about BULIMIA NERVOSA, SUSCEPTIBILITY TO; BULN

SOURCES: OMIM


Potential gene panels for BDNF gene

Central Hypoventilation Syndrome Panel (6 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Central Hypoventilation Syndrome Panel (6 Genes) that also includes the following genes: BDNF EDN3 GDNF ASCL1 PHOX2B RET

More info about this panel

PulmoGene Panel (64 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine PulmoGene Panel (64 Genes) that also includes the following genes: RPGR BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

More info about this panel

Autism/Intellectual Disability/Multiple Anomalies Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1

More info about this panel

Central hypoventilation syndrome (sequence analysis of BDNF gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the BDNF gene.

More info about this panel

Congenital Central Hypoventilation Syndrome (CCHS) via BDNF Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the BDNF gene.

More info about this panel

Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Central Hypoventilation Syndrome (CCHS) Sequencing Panel with CNV Detection that also includes the following genes: BDNF BMP2 EDN3 PHOX2A ASCL1 PHOX2B RET

More info about this panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

More info about this panel

Comprehensive Monogenic Obesity Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Monogenic Obesity Panel with CNV Detection that also includes the following genes: BDNF SDCCAG8 SIM1 TUB UCP3 KDM6A ARL6 RAB23 TRIM32 PHF6

More info about this panel

Central hypoventilation syndrome, congenital Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the BDNF 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

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Comprehensive pulmonary disease panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD

More info about this panel

Rett, Syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Rett, Syndrome that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1

More info about this panel

Congenital Central Hypoventilation Syndrome: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Central Hypoventilation Syndrome: Sequencing Panel that also includes the following genes: BDNF EDN3 GDNF HOXA1 ASCL1 PHOX2B RET

More info about this panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pulmonary Disease: Comprehensive Sequencing Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPB SFTPC SFTPD STAT3 TERT

More info about this panel

Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel that also includes the following genes: BDNF EDN3 GDNF HOXA1 ASCL1 PHOX2B RET

More info about this panel

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

Hypoventilation Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hypoventilation Syndrome NGS Panel that also includes the following genes: BDNF EDN3 GDNF ASCL1 PHOX2B

More info about this panel

Diabetes-Obesity NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Diabetes-Obesity NGS Panel that also includes the following genes: BDNF SDCCAG8 SIM1 HNF1A HNF1B WFS1 ARL6 NEUROG3 TRIM32 CEL

More info about this panel

Lung Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lung Disorders NGS Panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC TERC

More info about this panel

Central Hypoventilation Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Central Hypoventilation Syndrome NGS Panel that also includes the following genes: BDNF EDN3 GDNF ASCL1 PHOX2B RET

More info about this panel

BDNF Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BDNF gene.

More info about this panel

Hirschsprung Disease Panel Panel

Finland.

By Blueprint Genetics Hirschsprung Disease Panel that also includes the following genes: RMRP BDNF SOX10 ZEB2 KIF1BP EDN3 EDNRB CELSR3 L1CAM MITF

More info about this panel

BDNF Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the BDNF gene.

More info about this panel

Genecept Assay™ Panel

United States.

By Genomind Genomind, Inc Genecept Assay™ that also includes the following genes: BDNF SLC6A4 CACNA1C CYP2B6 CYP2C19 CYP2C9 CYP2D6 CYP3A5 ADRA2A DRD2

More info about this panel

HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL (ONDINE SYNDROME) Panel

Spain.

By Laboratorio de Genetica Clinica SL HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL (ONDINE SYNDROME) that also includes the following genes: BDNF EDN3 GDNF GFRA1 PHOX2A ASCL1 PHOX2B RET

More info about this panel

CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: BDNF EDN3 GDNF GFRA1 PHOX2A ASCL1 PHOX2B RET

More info about this panel

Ondine Syndrome, Sequencing BDNF Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BDNF gene.

More info about this panel

Ondine Syndrome (Congenital Central Hypoventilation Syndrome), Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Ondine Syndrome (Congenital Central Hypoventilation Syndrome), Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: BDNF EDN3 GDNF ASCL1 PHOX2B RET

More info about this panel

Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1

More info about this panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

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

Syndromic Hirschsprung Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: BDNF SDCCAG8 SOX10 ARL6 ZEB2 TRIM32 BBS7 TTC8 KIF1BP BBS10

More info about this panel


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