APC2 gene related symptoms and diseases
All the information presented here about the APC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to APC2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Mandibular prognathia | Very Common - Between 80% and 100% cases |
| Accelerated skeletal maturation | Very Common - Between 80% and 100% cases |
| Obesity | Very Common - Between 80% and 100% cases |
| Coarse facial features | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with APC2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypoglycemia
- Feeding difficulties in infancy
- Macrocephaly
- Multiple renal cysts
- Cryptorchidism
- Seizures
- Neoplasm
- Vesicoureteral reflux
And 110 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to APC2 gene
Here you will find a list of rare diseases related to the APC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SOTOS SYNDROME
Alternate names
SOTOS SYNDROME Is also known as cerebral gigantism
Description
Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.
Most common symptoms of SOTOS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Scoliosis
- Hypertelorism
More info about SOTOS SYNDROME
SOURCES: ORPHANET
SOTOS SYNDROME 3; SOTOS3
Most common symptoms of SOTOS SYNDROME 3; SOTOS3
- Intellectual disability
- Seizures
- Generalized hypotonia
- Neoplasm
- Cleft palate
More info about SOTOS SYNDROME 3; SOTOS3
Search interest in APC2
Potential gene panels for APC2 gene
Sotos syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Sotos syndrome and related disorders Comprehensive panel that also includes the following genes: NSD1 APC2 EZH2 NFIX
More info about this panel United States.
Sotos syndrome and related disorders Deletion/Duplication panel Panel
United States.
By Connective Tissue Gene Tests Sotos syndrome and related disorders Deletion/Duplication panel that also includes the following genes: NSD1 APC2 EZH2 NFIX
More info about this panel United States.
Sotos syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Sotos syndrome and related disorders NGS panel that also includes the following genes: NSD1 APC2 EZH2 NFIX
More info about this panel United States.
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 Germany.
APC2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the APC2 gene.
More info about this panel United States.
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