GNAI2 gene related symptoms and diseases

All the information presented here about the GNAI2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GNAI2 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Bipolar affective disorder Uncommon - Between 30% and 50% cases
Recurrent skin infections Uncommon - Between 30% and 50% cases
Hypokalemia Uncommon - Between 30% and 50% cases
Lipodystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GNAI2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Premature ovarian insufficiency
  • Acne
  • Agitation
  • Menorrhagia
  • Truncal obesity
  • Orthostatic hypotension
  • Telangiectasia of the skin
  • Striae distensae

And 57 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GNAI2 gene

Here you will find a list of rare diseases related to the GNAI2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


Alternate names

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia, cushing syndrome, adrenal, due to aimah, corticotropin-independent macronodular adrenal hyperplasia, adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Description

ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

Most common symptoms of ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

SOURCES: OMIM MESH

VENTRICULAR TACHYCARDIA, FAMILIAL


Alternate names

VENTRICULAR TACHYCARDIA, FAMILIAL Is also known as ventricular tachycardia, familial polymorphic

Most common symptoms of VENTRICULAR TACHYCARDIA, FAMILIAL

  • Abnormality of metabolism/homeostasis
  • Sudden cardiac death
  • Right bundle branch block
  • Paroxysmal ventricular tachycardia


More info about VENTRICULAR TACHYCARDIA, FAMILIAL

SOURCES: OMIM


Potential gene panels for GNAI2 gene

Cancer Hotspot Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A

More info about this panel

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel Panel

Germany.

By CeGaT GmbH Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel that also includes the following genes: RYR2 SCN5A TRDN CALM1 CALM2 CASQ2 DPP6 GNAI2 ANK2 KCNJ2

More info about this panel

GNAI2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GNAI2 gene.

More info about this panel

Focus::DLBCL&FL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::DLBCL&FL™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

More info about this panel

Focus::Lymphoma™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

More info about this panel

Cardiac Arrhythmia Exome Panel Panel

United States.

By Northwest Clinical Genomics Laboratory University of Washington Cardiac Arrhythmia Exome Panel that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SNTA1 TNNT2 TRDN TTN CACNA1C

More info about this panel


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