GNAQ gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to GNAQ gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Glaucoma Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Venous thrombosis Uncommon - Between 30% and 50% cases
Hemiparesis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Cerebral calcification
  • Nevus
  • Pulmonary embolism
  • Nevus flammeus
  • Capillary hemangioma
  • Intracranial hemorrhage
  • Venous insufficiency
  • Abnormality of the upper limb

And 87 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GNAQ gene

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


STURGE-WEBER SYNDROME


Alternate names

STURGE-WEBER SYNDROME Is also known as sws, sturge-weber-dimitri syndrome, sturge-weber-krabbe angiomatosis, encephalofacial angiomatosis, sturge-weber-krabbe syndrome, encephalotrigeminal angiomatosis

Description

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

Most common symptoms of STURGE-WEBER SYNDROME

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


More info about STURGE-WEBER SYNDROME

SOURCES: ORPHANET

STURGE-WEBER SYNDROME; SWS


Description

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Most common symptoms of STURGE-WEBER SYNDROME; SWS

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment


More info about STURGE-WEBER SYNDROME; SWS

SOURCES: OMIM

FAMILIAL MULTIPLE NEVI FLAMMEI


Alternate names

FAMILIAL MULTIPLE NEVI FLAMMEI Is also known as familial multiple port-wine stains

Description

Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.

Most common symptoms of FAMILIAL MULTIPLE NEVI FLAMMEI

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Edema
  • Arrhythmia


More info about FAMILIAL MULTIPLE NEVI FLAMMEI

SOURCES: ORPHANET

CAPILLARY MALFORMATIONS, CONGENITAL; CMC


Alternate names

CAPILLARY MALFORMATIONS, CONGENITAL; CMC Is also known as port-wine stain, nevi flammei, familial multiple, capillary malformations, cmal

Description

Capillary malformations are a form of vascular malformation that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas (OMIM ), which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity (Spring and Bentz, 2005; Legiehn and Heran, 2006).

Most common symptoms of CAPILLARY MALFORMATIONS, CONGENITAL; CMC

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Edema
  • Dilatation


More info about CAPILLARY MALFORMATIONS, CONGENITAL; CMC

SOURCES: ORPHANET 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

SOURCES: ORPHANET OMIM

PHAKOMATOSIS CESIOFLAMMEA


Alternate names

PHAKOMATOSIS CESIOFLAMMEA Is also known as phakomatosis pigmentovascularis type 2


More info about PHAKOMATOSIS CESIOFLAMMEA

SOURCES: ORPHANET


Potential gene panels for GNAQ gene

Platelet Disorders Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Platelet Disorders that also includes the following genes: RUNX1 STIM1 TBXA2R TBXAS1 USF1 VPS33B VWF WAS GP6 HPS3

More info about this panel

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

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

GNAQ Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GNAQ gene.

More info about this panel

Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Vascular Malformations NGS Multi-Gene Panel (21 Genes) that also includes the following genes: BMPR2 SOX18 TEK GLMN CAV1 KRIT1 ACVRL1 DOCK6 ANTXR1 CCM2

More info about this panel

Uveal melanoma and blue nevi (frequent somatic mutations at codon 209 of GNAQ gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GNAQ gene.

More info about this panel

Sturge-Weber syndrome (mutation p.Arg183Gln on GNAQ gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GNAQ gene.

More info about this panel

Capillary malformations, congenital (mutation p. Arg183GIn on GNAQ gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GNAQ gene.

More info about this panel

Capillary malformations, congenital (mutation p. Arg183GIn on GNAQ gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GNAQ gene.

More info about this panel

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

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

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

Macrocephaly Panel

Germany.

By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

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

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

Single gene testing GNAQ Panel

Germany.

By CeGaT GmbH

This panel specifically test the GNAQ gene.

More info about this panel

Sturge-Weber syndrome, somatic, mosaic: GNAQ gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GNAQ gene.

More info about this panel

Melanoma: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Melanoma: Sequencing Panel that also includes the following genes: BRAF WRN CDK4 CDKN2A GNAQ KIT KRAS MAP2K1 NRAS PIK3CA

More info about this panel

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

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

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

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

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

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

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

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

Circulo Melanoma Panel

United States.

By Circulogene Theranostics

This panel specifically test the GNAQ gene.

More info about this panel

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

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

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

STURGE-WEBER SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GNAQ gene.

More info about this panel

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

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

Sturge-Weber Syndrome , Sequencing GNAQ Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GNAQ gene.

More info about this panel

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

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

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

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

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


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