C2CD3 gene related symptoms and diseases
All the information presented here about the C2CD3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to C2CD3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Absent speech | Uncommon - Between 30% and 50% cases |
| Neoplasm of the rectum | Uncommon - Between 30% and 50% cases |
| Esophageal neoplasm | Uncommon - Between 30% and 50% cases |
| Neoplasm of the colon | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with C2CD3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Neoplasm of the stomach
- Gastrointestinal obstruction
- Neoplasm of the gastrointestinal tract
- Giant hypertrophic gastritis
- Intellectual disability
- Microcephaly
- Abnormal facial shape
- Cleft palate
And 50 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to C2CD3 gene
Here you will find a list of rare diseases related to the C2CD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
OROFACIODIGITAL SYNDROME TYPE 14
Alternate names
OROFACIODIGITAL SYNDROME TYPE 14 Is also known as oral-facial-digital syndrome type 14, ofd14, microcephaly-cerebral malformation-orofaciodigital syndrome
Description
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.
Most common symptoms of OROFACIODIGITAL SYNDROME TYPE 14
- Intellectual disability
- Microcephaly
- Abnormal facial shape
- Cleft palate
- Hypoplasia of the corpus callosum
More info about OROFACIODIGITAL SYNDROME TYPE 14
Search interest in C2CD3
Potential gene panels for C2CD3 gene
C2CD3 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the C2CD3 gene.
More info about this panel United States.
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders NGS panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders Deletion / Duplication panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders Comprehensive panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Orofaciodigital syndrome type 14 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the C2CD3 gene.
More info about this panel Germany.
C2CD3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C2CD3 gene.
More info about this panel United States.
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 United States.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
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