FHIT gene related symptoms and diseases

All the information presented here about the FHIT 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 FHIT gene

Symptoms // Phenotype % Cases
Respiratory distress Uncommon - Between 30% and 50% cases
Central apnea Uncommon - Between 30% and 50% cases
Abnormal respiratory system morphology Uncommon - Between 30% and 50% cases
Respiratory failure requiring assisted ventilation Uncommon - Between 30% and 50% cases
Pulmonary sequestration Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Tracheobronchomalacia
  • Functional respiratory abnormality
  • Diaphragmatic paralysis
  • Right ventricular failure
  • Atelectasis
  • Chronic lung disease
  • Dyspnea
  • Right ventricular hypertrophy

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FHIT gene

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


BRONCHOPULMONARY DYSPLASIA

Alternate names

BRONCHOPULMONARY DYSPLASIA Is also known as bpd

Description

Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.

Most common symptoms of BRONCHOPULMONARY DYSPLASIA

  • Respiratory distress
  • Dyspnea
  • Cough
  • Small for gestational age
  • Sleep disturbance


More info about BRONCHOPULMONARY DYSPLASIA

SOURCES: MESH ORPHANET

HEREDITARY CLEAR CELL RENAL CELL CARCINOMA

Alternate names

HEREDITARY CLEAR CELL RENAL CELL CARCINOMA Is also known as hereditary clear cell renal cell adenocarcinoma

Description

Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.


More info about HEREDITARY CLEAR CELL RENAL CELL CARCINOMA

SOURCES: ORPHANET


Potential gene panels for FHIT gene

FHIT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FHIT gene.

More info about this panel
United States.

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel
United States.

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
United States.

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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