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.

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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

SOURCES: ORPHANET OMIM


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

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

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

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

APC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the APC2 gene.

More info about this panel


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