GAS8-AS1 gene related symptoms and diseases

All the information presented here about the GAS8-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GAS8-AS1 gene

Symptoms // Phenotype % Cases
Hearing impairment Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Non-medullary thyroid carcinoma Uncommon - Between 30% and 50% cases
Follicular thyroid carcinoma Uncommon - Between 30% and 50% cases
Medullary thyroid carcinoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GAS8-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Papillary thyroid carcinoma
  • Multinodular goiter
  • Thyroid carcinoma
  • Thyroiditis
  • Colon cancer
  • Oral-pharyngeal dysphagia
  • Goiter
  • Hoarse voice

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GAS8-AS1 gene

Here you will find a list of rare diseases related to the GAS8-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CILIARY DYSKINESIA, PRIMARY, 33; CILD33

Alternate names

CILIARY DYSKINESIA, PRIMARY, 33; CILD33 Is also known as ciliary dyskinesia, primary, 33, without situs inversus

Description

Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

Most common symptoms of CILIARY DYSKINESIA, PRIMARY, 33; CILD33

  • Hearing impairment
  • Recurrent infections
  • Conductive hearing impairment
  • Respiratory tract infection
  • Cough


More info about CILIARY DYSKINESIA, PRIMARY, 33; CILD33

SOURCES: OMIM

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



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