ERC1 gene related symptoms and diseases

All the information presented here about the ERC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ERC1 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Hoarse voice Uncommon - Between 30% and 50% cases
Goiter Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ERC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Oral-pharyngeal dysphagia
  • Colon cancer
  • Thyroiditis
  • Thyroid carcinoma
  • Multinodular goiter
  • Papillary thyroid carcinoma
  • Medullary thyroid carcinoma
  • Follicular thyroid carcinoma

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to ERC1 gene

Here you will find a list of rare diseases related to the ERC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DIFFERENTIATED THYROID CARCINOMA


Alternate names

DIFFERENTIATED THYROID CARCINOMA Is also known as well-differentiated thyroid carcinoma, pact, tpc, nonmedullary thyroid carcinoma, papillary, papillary or follicular thyroid carcinoma, papillary carcinoma of thyroid, familial nonmedullary thyroid cancer, papillary, ptc

Description

Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.

Most common symptoms of DIFFERENTIATED THYROID CARCINOMA

  • Neoplasm
  • Pain
  • Carcinoma
  • Hoarse voice
  • Goiter


More info about DIFFERENTIATED THYROID CARCINOMA

SOURCES: ORPHANET OMIM

DISTAL MONOSOMY 12P


Alternate names

DISTAL MONOSOMY 12P Is also known as 12p13.33 microdeletion syndrome, del(12)(p13.33), distal deletion 12p

Description

Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.


More info about DISTAL MONOSOMY 12P

SOURCES: ORPHANET


Potential gene panels for ERC1 gene

ERC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ERC1 gene.

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TMEM173 REN JAK2 HSD3B1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more