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  3. MACROD2

MACROD2 gene related symptoms and diseases

All the information presented here about the MACROD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to MACROD2 gene

Symptoms // Phenotype % Cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Myocarditis Very Common - Between 80% and 100% cases
Cheilitis Very Common - Between 80% and 100% cases
Elevated C-reactive protein level Very Common - Between 80% and 100% cases
Inflammatory abnormality of the eye Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MACROD2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Recurrent pharyngitis
  • Abnormal myocardium morphology
  • Allergy
  • Tubulointerstitial nephritis
  • Ascending tubular aorta aneurysm
  • Aortic root aneurysm
  • Acute kidney injury
  • Pericarditis

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MACROD2 gene

Here you will find a list of rare diseases related to the MACROD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


KAWASAKI DISEASE

Alternate names

KAWASAKI DISEASE Is also known as kd, infantile polyarteritis, mucocutaneous lymph node syndrome

Description

Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

Most common symptoms of KAWASAKI DISEASE

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


More info about KAWASAKI DISEASE

SOURCES: OMIM ORPHANET MESH


Potential gene panels for MACROD2 gene

MACROD2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MACROD2 gene.

More info about this panel
United States.

KABUKI SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL KABUKI SYNDROME that also includes the following genes: KDM6A MACROD2 KMT2D

More info about this panel
Spain.

KABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL KABUKI/KABUKI-LIKE SYNDROME NGS PANEL that also includes the following genes: SIX1 SIX5 KDM6A MACROD2 CHD7 KDM1A EYA1 FLNB HNRNPK IRF6

More info about this panel
Spain.

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