MIR3690 gene related symptoms and diseases

All the information presented here about the MIR3690 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MIR3690 gene

Symptoms // Phenotype % Cases
Growth delay Very Common - Between 80% and 100% cases
Failure to thrive Very Common - Between 80% and 100% cases
Respiratory insufficiency Very Common - Between 80% and 100% cases
Respiratory distress Very Common - Between 80% and 100% cases
Pneumonia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MIR3690 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Respiratory failure
  • Tachycardia
  • Abnormal lung morphology
  • Tachypnea
  • Restrictive ventilatory defect
  • Hypoxemia
  • Foam cells
  • Alveolar proteinosis

And 1 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MIR3690 gene

Here you will find a list of rare diseases related to the MIR3690. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4


Alternate names

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 Is also known as pulmonary alveolar proteinosis, congenital, 4, csf2ra deficiency, pap due to csf2ra deficiency

Description

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (OMIM ) expression. Acquired PAP (OMIM ), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (OMIM ) (Martinez-Moczygemba et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

Most common symptoms of SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

  • Growth delay
  • Failure to thrive
  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia


More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

SOURCES: MESH OMIM




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