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.
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.
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
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
Search interest in GNAI2
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 Germany.
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 Germany.
GNAI2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GNAI2 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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