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.
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
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
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
Search interest in BDNF
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 United States.
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 United States.
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 United States.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
BDNF Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BDNF gene.
More info about this panel United States.
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 Finland.
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 United States.
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 United States.
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 Spain.
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 Spain.
Ondine Syndrome, Sequencing BDNF Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the BDNF gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 Canada.
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