GNA11 gene related symptoms and diseases
All the information presented here about the GNA11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GNA11 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nephrolithiasis | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Laryngospasm | Uncommon - Between 30% and 50% cases |
| Muscle cramps | Uncommon - Between 30% and 50% cases |
| Paresthesia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GNA11 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Basal ganglia calcification
- Hypocalcemia
- Short stature
- Fatigue
- Hypoparathyroidism
- Hyperphosphatemia
- Tetany
Rarely - Less than 30% cases
- Neoplasm
And 75 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GNA11 gene
Here you will find a list of rare diseases related to the GNA11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 2
Alternate names
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 2 Is also known as familial benign hypercalcemia, type ii, hypercalcemia, familial benign, type ii, fbh2, fhh type 2
Most common symptoms of FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 2
- Nephrolithiasis
- Pancreatitis
- Hypercalcemia
- Multiple lipomas
- Chondrocalcinosis
More info about FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 2
AUTOSOMAL DOMINANT HYPOCALCEMIA
Alternate names
AUTOSOMAL DOMINANT HYPOCALCEMIA Is also known as ad hypocalcemia, hypocalcemia, familial, hypercalciuric hypocalcemia
Description
Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.
Most common symptoms of AUTOSOMAL DOMINANT HYPOCALCEMIA
- Seizures
- Short stature
- Optic atrophy
- Fatigue
- Congestive heart failure
More info about AUTOSOMAL DOMINANT HYPOCALCEMIA
HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2
Most common symptoms of HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2
- Seizures
- Short stature
- Hearing impairment
- Growth delay
- Fatigue
More info about HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2
SOURCES: OMIM
UVEAL MELANOMA
Alternate names
UVEAL MELANOMA Is also known as choroidal melanoma, iris melanoma
Description
Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.
Most common symptoms of UVEAL MELANOMA
- Neoplasm
- Visual loss
- Carcinoma
- Retinal detachment
- Nevus
More info about UVEAL MELANOMA
PHAKOMATOSIS CESIOFLAMMEA
Alternate names
PHAKOMATOSIS CESIOFLAMMEA Is also known as phakomatosis pigmentovascularis type 2
More info about PHAKOMATOSIS CESIOFLAMMEA
SOURCES: ORPHANET
PHAKOMATOSIS CESIOMARMORATA
Alternate names
PHAKOMATOSIS CESIOMARMORATA Is also known as phakomatosis pigmentovascularis type 5
More info about PHAKOMATOSIS CESIOMARMORATA
SOURCES: ORPHANET
Search interest in GNA11
Potential gene panels for GNA11 gene
Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1 Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1 that also includes the following genes: GNA11 GNAQ BAP1
More info about this panel United States.
Somatic Overgrowth Gene Panel Panel
United States.
By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Somatic Overgrowth Gene Panel that also includes the following genes: AKT1 AKT2 AKT3 MTOR GNA11 GNAQ PIK3CA PIK3R2
More info about this panel United States.
Hyperparathyroidism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hyperparathyroidism Deletion/Duplication Panel that also includes the following genes: CASR CDC73 CDKN1B GNA11 AP2S1 MEN1 PTH1R RET
More info about this panel United States.
Hypoparathyroidism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism Deletion/Duplication Panel that also includes the following genes: STX16 TBCE TBX1 CASR CHD7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panel United States.
Hypoparathyroidism sequencing panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism sequencing panel that also includes the following genes: STX16 TBCE TBX1 CASR CDH7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panel United States.
Hyperparathyroidism Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hyperparathyroidism Sequencing Panel that also includes the following genes: CASR CDC73 CDKN1B GNA11 AP2S1 MEN1 PTH1R RET
More info about this panel United States.
GNA11 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GNA11 gene.
More info about this panel Germany.
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panel United States.
Familial hypocalciuric hypercalcemia type 2 (sequence analysis of GNA11 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GNA11 gene.
More info about this panel Portugal.
Uveal Melanoma Genetic Prognostic Test Panel
Canada.
By Impact Genetics Impact Genetics Uveal Melanoma Genetic Prognostic Test that also includes the following genes: GNA11 GNAQ
More info about this panel Canada.
Hypercalcemic and Hypocalcemic Disorders via GNA11 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GNA11 gene.
More info about this panel United States.
Hypoparathyroidism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS
More info about this panel United States.
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection that also includes the following genes: CASR GNA11 AP2S1
More info about this panel United States.
Nephrolithiasis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Nephrolithiasis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panel United States.
Bartter syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Bartter syndrome and related disorders NGS panel that also includes the following genes: SLC12A1 SLC12A3 CASR MAGED2 BSND CLCNKA CLCNKB GNA11 KCNJ1
More info about this panel United States.
Bartter syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Bartter syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC12A3 CASR MAGED2 BSND CLCNKA CLCNKB GNA11 KCNJ1
More info about this panel United States.
Bartter syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Bartter syndrome and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC12A3 CASR MAGED2 BSND CLCNKA CLCNKB GNA11 KCNJ1
More info about this panel United States.
Hypocalciuric hypercalcemia Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hypocalciuric hypercalcemia that also includes the following genes: CASR GNA11 AP2S1
More info about this panel Germany.
Autosomal dominant Hypocalcemia Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Autosomal dominant Hypocalcemia that also includes the following genes: CASR GNA11
More info about this panel Germany.
Custom solid tumor gene sequencing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A
More info about this panel United States.
Melanoma, somatic mutation sequencing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Melanoma, somatic mutation sequencing panel that also includes the following genes: BRAF GNA11 GNAQ KIT NRAS
More info about this panel United States.
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.
Solid Tumor Panel Panel
Germany.
By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Hypocalcemia, autosomal dominant 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GNA11 gene.
More info about this panel Germany.
Bartter Syndrome Panel Panel
Germany.
By CeGaT GmbH Bartter Syndrome Panel that also includes the following genes: SLC12A1 SLC12A3 CASR BSND CLCNKA CLCNKB GNA11 KCNJ1
More info about this panel Germany.
Single gene testing GNA11 Panel
Germany.
By CeGaT GmbH
This panel specifically test the GNA11 gene.
More info about this panel Germany.
Skeletal dysplasia with abnormal mineralization Panel Panel
Germany.
By CeGaT GmbH Skeletal dysplasia with abnormal mineralization Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1
More info about this panel Germany.
Hypercalcemia (FHH), Familial hypocalciuric: GNA11 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GNA11 gene.
More info about this panel Spain.
Hypocalcemia autosomal dominant 2: GNA11 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GNA11 gene.
More info about this panel Spain.
Hypocalciuric hypercalcemia: CASR, GNA11, and AP2S1 genes sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypocalciuric hypercalcemia: CASR, GNA11, and AP2S1 genes sequence analysis that also includes the following genes: CASR GNA11 AP2S1
More info about this panel Spain.
Hyperparathyroidism Panel Panel
Finland.
By Blueprint Genetics Hyperparathyroidism Panel that also includes the following genes: CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C AIRE GCM2 GNA11 AP2S1
More info about this panel Finland.
Bartter Syndrome Panel Panel
Finland.
By Blueprint Genetics Bartter Syndrome Panel that also includes the following genes: SLC12A1 SLC12A3 CASR BSND CLCNKA CLCNKB GNA11 AP2S1 KCNJ1
More info about this panel Finland.
Nephrolithiasis Panel Panel
Finland.
By Blueprint Genetics Nephrolithiasis Panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 VDR XDH SLC2A9 CA2
More info about this panel Finland.
Focus::Oncomine™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Oncomine™ NGS Panel that also includes the following genes: ROS1 BRAF SMO CDK4 CTNNB1 DDR2 EGFR ERBB2 ERBB3 ERBB4
More info about this panel United States.
Somatic Overgrowth Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Somatic Overgrowth Gene Set that also includes the following genes: SMO TSC1 TSC2 AKT1 AKT2 AKT3 MTOR GNA11 GNAQ IDH1
More info about this panel United States.
Nevus Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Nevus Gene Set that also includes the following genes: FGFR3 GNA11 GNAQ HRAS KRAS NRAS PIK3CA
More info about this panel United States.
Melanoma Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Melanoma Gene Set that also includes the following genes: ROS1 BRAF TERT MED12 TP53 KMT2C CCND1 CDK4 CDKN2A CTNNB1
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.
Guardant360 Panel
United States.
By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A
More info about this panel United States.
Comprehensive Panel for Individualized Cancer Threatment Panel
Greece.
By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Greece.
Cancer Hotspot Analysis Panel
United States.
By Advanced Technology Laboratory Spectrum Health Cancer Hotspot Analysis that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel United States.
Circulo Melanoma Panel
United States.
By Circulogene Theranostics
This panel specifically test the GNA11 gene.
More info about this panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
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.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
HYPOCALCEMIA (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOCALCEMIA (AUTOSOMAL DOMINANT) that also includes the following genes: CASR GNA11
More info about this panel Spain.
HYPOPARATHYROIDISM Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOPARATHYROIDISM that also includes the following genes: CASR GCM2 GNA11 PTH
More info about this panel Spain.
FAMILIAL HYPOCALCIURIC HYPERCALCEMIATYPE 2 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GNA11 gene.
More info about this panel Spain.
Solid Tumor Targeted Mutation and Fusion Panel Panel
United States.
By Providence Regional Laboratories Providence Health and Services Solid Tumor Targeted Mutation and Fusion Panel that also includes the following genes: ROS1 BRAF SMO CCND1 CDK4 CDK6 CTNNB1 DDR2 EGFR ERBB2
More info about this panel United States.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
Autosomal Dominant Hypocalcemia Type 2 , Sequencing GNA11 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GNA11 gene.
More info about this panel Spain.
Familial Hypocalciuric Hypercalcemia (FHH) , Panel Massive Sequencing AP2S1, CASR, GNA11 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hypocalciuric Hypercalcemia (FHH) , Panel Massive Sequencing AP2S1, CASR, GNA11 Genes that also includes the following genes: CASR GNA11 AP2S1
More info about this panel Spain.
152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
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.
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel Canada.
PrimBio Cancer HotSpot Panel Panel
United States.
By PrimBio Research Institute PrimBio Research Institute PrimBio Cancer HotSpot Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like AICDA PAX3 LAMB2 ELANE EPHB4 MYC ANXA11