GNB3 gene related symptoms and diseases

All the information presented here about the GNB3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GNB3 gene

Symptoms // Phenotype % Cases
Nystagmus Common - Between 50% and 80% cases
Blindness Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Nyctalopia Common - Between 50% and 80% cases
Hypermetropia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with GNB3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • High myopia
  • Congenital stationary night blindness
  • Not very common - Between 30% and 50% cases

  • Hypotension
  • Moderate hypermetropia
  • Hypertension
  • Hypertonia
  • Small for gestational age
  • Pseudohypoaldosteronism

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GNB3 gene

Here you will find a list of rare diseases related to the GNB3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H; CSNB1H


Description

Congenital stationary night blindness type 1H (CSNB1H) is an unusual and unique stationary retinal disorder with a dual anomaly in visual processing, characterized by a partial or severe degree of ON bipolar dysfunction and variably reduced cone sensitivity. Patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia (Vincent et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (OMIM ).

Most common symptoms of NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H; CSNB1H

  • Nystagmus
  • Myopia
  • Blindness
  • Photophobia
  • Nyctalopia


More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H; CSNB1H

SOURCES: OMIM

CONGENITAL STATIONARY NIGHT BLINDNESS


Alternate names

CONGENITAL STATIONARY NIGHT BLINDNESS Is also known as hemeralopia-myopia, myopia-night blindness, night blindness, congenital stationary, with myopia, csnb, complete, x-linked, nbm1, congenital essential nyctalopia

Description

Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities.

Most common symptoms of CONGENITAL STATIONARY NIGHT BLINDNESS

  • Nystagmus
  • Strabismus
  • Myopia
  • Blindness
  • Reduced visual acuity


More info about CONGENITAL STATIONARY NIGHT BLINDNESS

SOURCES: ORPHANET OMIM

HYPERTENSION, ESSENTIAL


Alternate names

HYPERTENSION, ESSENTIAL Is also known as eht

Description

The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution (Pickering, 1978). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait (Platt, 1963). McDonough et al. (1964) defended the monogenic idea. See McKusick (1960) and Kurtz and Spence (1993) for reviews. Swales (1985) reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations.

Most common symptoms of HYPERTENSION, ESSENTIAL

  • Hypertension
  • Hypertonia
  • Small for gestational age
  • Hypotension
  • Malnutrition


More info about HYPERTENSION, ESSENTIAL

SOURCES: OMIM


Potential gene panels for GNB3 gene

Congenital Stationary Night Blindness Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Stationary Night Blindness Panel that also includes the following genes: RHO GRK1 SAG SLC24A1 CABP4 CACNA1F LRIT3 GPR179 GNAT1 GNB3

More info about this panel

Obesity genetic testing Panel

Portugal.

By CGC Genetics Obesity genetic testing that also includes the following genes: APOA5 INSIG2 FTO GNB3 MC4R

More info about this panel

Night blindness, congenital stationary (NGS panel of 13 genes) Panel

Portugal.

By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6

More info about this panel

Night blindness, congenital stationary (NGS panel of 13 genes) Panel

Portugal.

By CGC Genetics Night blindness, congenital stationary (NGS panel of 13 genes) that also includes the following genes: RHO GRK1 SAG SLC24A1 CACNA1F LRIT3 GPR179 GNAT1 GNB3 GRM6

More info about this panel

GNB3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GNB3 gene.

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Study of Molecular Markers Of Essential Hypertension and Associated Cardiovascular Events (37 genes - 57 genetic variants) that also includes the following genes: SCNN1A SCNN1B SLC12A3 CALCA WNK1 STK39 CLCNKA CLCNKB ADD1 ADRA1A

More info about this panel


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