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 featuresPatients 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
- 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.
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
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
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
- Hoarse voice
More info about DIFFERENTIATED THYROID CARCINOMA
DISTAL MONOSOMY 12P
DISTAL MONOSOMY 12P Is also known as 12p13.33 microdeletion syndrome, del(12)(p13.33), distal deletion 12p
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
Search interest in ERC1
Potential gene panels for ERC1 gene
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
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 RUNX1More info about this panel