CDON gene related symptoms and diseases

All the information presented here about the CDON gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CDON gene

Symptoms // Phenotype % Cases
Global developmental delay Rare - less than 30% cases
Anemia Rare - less than 30% cases
Esophageal neoplasm Rare - less than 30% cases
Giant hypertrophic gastritis Rare - less than 30% cases
Neoplasm of the gastrointestinal tract Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with CDON gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Gastrointestinal obstruction
  • Neoplasm of the stomach
  • Neoplasm of the colon
  • Neoplasm of the rectum
  • Seizures
  • Neoplasm of the small intestine
  • Mastocytosis
  • Soft tissue sarcoma

And 60 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CDON gene

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


HOLOPROSENCEPHALY 11; HPE11


Most common symptoms of HOLOPROSENCEPHALY 11; HPE11

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


More info about HOLOPROSENCEPHALY 11; HPE11

SOURCES: OMIM

GASTROINTESTINAL STROMAL TUMOR


Alternate names

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH

PITUITARY STALK INTERRUPTION SYNDROME


Alternate names

PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis, ectopic neurohypophysis

Description

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

Most common symptoms of PITUITARY STALK INTERRUPTION SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


More info about PITUITARY STALK INTERRUPTION SYNDROME

SOURCES: ORPHANET

SEMILOBAR HOLOPROSENCEPHALY


Description

Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE; see this term) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


More info about SEMILOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

SEPTOPREOPTIC HOLOPROSENCEPHALY


Alternate names

SEPTOPREOPTIC HOLOPROSENCEPHALY Is also known as septopreoptic hpe

Description

Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion.


More info about SEPTOPREOPTIC HOLOPROSENCEPHALY

SOURCES: ORPHANET

LOBAR HOLOPROSENCEPHALY


Description

Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.


More info about LOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

ALOBAR HOLOPROSENCEPHALY


Description

Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE; see this term) characterized by a single brain ventricle and no interhemispheric fissure.


More info about ALOBAR HOLOPROSENCEPHALY

SOURCES: ORPHANET

MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY


Alternate names

MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY Is also known as mihf, mihv, middle interhemispheric variant of holoprosencephaly, mih, mih type hpe, syntelencephaly, middle interhemispheric fusion variant

Description

Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.


More info about MIDLINE INTERHEMISPHERIC VARIANT OF HOLOPROSENCEPHALY

SOURCES: ORPHANET


Potential gene panels for CDON gene

NGS Epilepsy/Seizure Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

More info about this panel

Holoprosencephaly Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Holoprosencephaly that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel

Holoprosencephaly Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Holoprosencephaly Sequencing Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1

More info about this panel

Holoprosencephaly Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Holoprosencephaly Deletion/Duplication Panel that also includes the following genes: SHH STIL SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 GLI2 PTCH1

More info about this panel

CDON. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CDON gene.

More info about this panel

Holoprosencephaly 11 (sequence analysis of CDON gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CDON gene.

More info about this panel

Holoprosencephaly (NGS panel for 9 genes) Panel

Portugal.

By CGC Genetics Holoprosencephaly (NGS panel for 9 genes) that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1

More info about this panel

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel with CNV Detection that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel

Holoprosencephaly-11 via CDON Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CDON gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Holoprosencephaly Panel

Germany.

By MGZ Medical Genetics Center Holoprosencephaly that also includes the following genes: CDON DISP1 FGF8 FOXH1 GLI2 NODAL PTCH1

More info about this panel

Holoprosencephaly panel Panel

Germany.

By Centogene AG - the Rare Disease Company Holoprosencephaly panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 GLI3 PTCH1

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

Holoprosencephaly 11 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CDON gene.

More info about this panel

Holoprosencephaly Panel Panel

Germany.

By CeGaT GmbH Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1

More info about this panel

Holoprosencephaly Panel Panel

Germany.

By CeGaT GmbH Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1

More info about this panel

Single gene testing CDON Panel

Germany.

By CeGaT GmbH

This panel specifically test the CDON gene.

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

HOLOPROSENCEPHALY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases HOLOPROSENCEPHALY that also includes the following genes: SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FOXH1 GAS1 GLI2 NODAL

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

Holoproscencephaly NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Holoproscencephaly NGS Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON GLI2 PTCH1

More info about this panel

CDON Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDON gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Holoprosencephaly Panel Panel

Finland.

By Blueprint Genetics Holoprosencephaly Panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON FGF8 FGFR1 FOXH1 GLI2 GLI3

More info about this panel

Holoprosencephaly type 11 Panel

Spain.

By Bioarray

This panel specifically test the CDON gene.

More info about this panel

HOLOPROSENCEPHALY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HOLOPROSENCEPHALY NGS PANEL that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DLL1 FGF8 FGFR1 FOXH1 GAS1

More info about this panel

Holoprosencephaly , Sequencing CDON Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CDON gene.

More info about this panel

Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Holoprosencephaly, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: SIX3 TGIF1 ZIC2 CDON FGF8 GLI2 NODAL PTCH1

More info about this panel

Holoprosencephaly: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Holoprosencephaly: gene sequencing panel that also includes the following genes: SHH SIX3 TGIF1 ZIC2 CDON DISP1 DLL1 FGF8 FOXH1 GAS1

More info about this panel


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