GDNF gene related symptoms and diseases

All the information presented here about the GDNF 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 GDNF gene

Symptoms // Phenotype % Cases
Aganglionic megacolon Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Neoplasm of the endocrine system Uncommon - Between 30% and 50% cases
Central hypoventilation Uncommon - Between 30% and 50% cases
Hypoventilation Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Abnormal autonomic nervous system physiology
  • Increased body weight
  • Diarrhea
  • Fever
  • Feeding difficulties
  • Pain
  • Total colonic aganglionosis
  • Constipation

And 131 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GDNF gene

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


PHEOCHROMOCYTOMA


Alternate names

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Description

Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

Most common symptoms of PHEOCHROMOCYTOMA

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


More info about PHEOCHROMOCYTOMA

SOURCES: ORPHANET OMIM

HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3


Description

The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).Hofstra et al. (1997) discussed the possible role of GDNF in the pathogenesis of Hirschsprung disease.For a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see {142623}.

Most common symptoms of HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3

  • Aganglionic megacolon
  • Total colonic aganglionosis


More info about HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3; HSCR3

SOURCES: OMIM

HIRSCHSPRUNG DISEASE


Alternate names

HIRSCHSPRUNG DISEASE Is also known as hscr, aganglionic megacolon, congenital intestinal aganglionosis, hirschsprung disease, megacolon, aganglionic, mgc

Description

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

Most common symptoms of HIRSCHSPRUNG DISEASE

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about HIRSCHSPRUNG DISEASE

SOURCES: ORPHANET OMIM

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


Potential gene panels for GDNF 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

Central hypoventilation syndrome (sequence analysis of GDNF gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GDNF gene.

More info about this panel

Pheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel

Portugal.

By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH

More info about this panel

Pheochromocytoma and paraganglioma (NGS panel for 16 genes) Panel

Portugal.

By CGC Genetics Pheochromocytoma and paraganglioma (NGS panel for 16 genes) that also includes the following genes: SDHA SDHB SDHC SDHD EGLN1 VHL KIF1B SDHAF2 TMEM127 FH

More info about this panel

Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hirschsprung Disease (Non-syndromic) Sequencing Panel with CNV Detection that also includes the following genes: ECE1 EDN3 EDNRB GDNF NRTN RET

More info about this panel

Hirschsprung Disease 3 (HSCR3) via GDNF Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GDNF gene.

More info about this panel

GDNF Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the GDNF gene.

More info about this panel

Central hypoventilation syndrome, congenital Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GDNF gene.

More info about this panel

Hirschsprung disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GDNF 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

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

Renal Dysplasia, Renal Agenesia, CAKUT Panel Panel

Germany.

By CeGaT GmbH Renal Dysplasia, Renal Agenesia, CAKUT Panel that also includes the following genes: ROBO2 SDCCAG8 BMP4 SIX1 SIX5 SPRY1 TBX18 HNF1B TFAP2A UPK3A

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

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

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

Hirschsprung Disease NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hirschsprung Disease NGS Panel that also includes the following genes: ECE1 EDN3 EDNRB GDNF RET

More info about this panel

GDNF Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GDNF gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

GDNF 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 GDNF gene.

More info about this panel

HIRSCHSPRUNG´S DISEASE: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HIRSCHSPRUNG´S DISEASE: NGS PANEL that also includes the following genes: SEMA3A SEMA3C SEMA3D SOX10 ZEB2 KIF1BP ECE1 EDN3 EDNRB GDNF

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

HIRSCHSPRUNG´S DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL HIRSCHSPRUNG´S DISEASE that also includes the following genes: SOX10 EDN3 EDNRB GDNF NRG1 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 GDNF Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GDNF gene.

More info about this panel

Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Hirschsprung Disease, Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: ECE1 EDN3 EDNRB GDNF L1CAM RET

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

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

Non syndromic Hirschsprung Disease: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Non syndromic Hirschsprung Disease: gene sequencing panel that also includes the following genes: SEMA3C SEMA3D ECE1 EDN3 EDNRB GDNF NRG1 NRG3 NRTN RET

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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