FRMD7 gene related symptoms and diseases

All the information presented here about the FRMD7 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FRMD7 gene

Symptoms // Phenotype % Cases
Nystagmus Very Common - Between 80% and 100% cases
Abnormality of color vision Very Common - Between 80% and 100% cases
Absent smooth pursuit Very Common - Between 80% and 100% cases
Myopic astigmatism Very Common - Between 80% and 100% cases
Complete congenital stationary night blindness Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FRMD7 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Congenital fibrosis of extraocular muscles
  • Achromatopsia
  • Congenital stationary night blindness
  • Ocular albinism
  • Pendular nystagmus
  • Congenital nystagmus
  • Congenital blindness
  • Gaze-evoked nystagmus

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FRMD7 gene

Here you will find a list of rare diseases related to the FRMD7. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1


Alternate names

NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1 Is also known as nystagmus 1, infantile, x-linked, nystagmus, congenital motor, 1, iin, formerly, nystagmus, infantile idiopathic, formerly

Description

Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007).Congenital nystagmus may also be a feature of other ocular diseases, such as albinism (see, e.g., OCA1A, {203100}), achromatopsia (see, e.g., ACHM3, {262300}), and Leber congenital amaurosis (see, e.g., LCA1, {204000}). Congenital nystagmus is associated with at least 3 X-linked disorders: Nettleship-Falls ocular albinism (OA1 ), which maps to Xp22.3; complete congenital stationary night blindness (CSNB1 ), which maps to Xp11.4; and blue-cone monochromatism (CBBM ), which maps to Xq28. Genetic Heterogeneity of Congenital NystagmusTwo other X-linked forms of congenital nystagmus have been reported: NYS5 (OMIM ), which maps to Xp11.4-p11.3, and NYS6 (OMIM ), which is caused by mutation in the GPR143 gene (OMIM ) on Xp22.3. Autosomal dominant forms have been mapped to chromosomes 6p12 (NYS2 ), 7p11 (NYS3 ), 13q (NYS4 ), and 1q31-q32 (NYS7 ). Autosomal recessive inheritance may rarely occur (see {257400}).

Most common symptoms of NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1

  • Nystagmus
  • Strabismus
  • Blindness
  • Reduced visual acuity
  • Abnormality of the nervous system


More info about NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1

SOURCES: OMIM


Potential gene panels for FRMD7 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

FRMD7 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the FRMD7 gene.

More info about this panel

FRMD7. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the FRMD7 gene.

More info about this panel

Nystagmus 1, congenital idiopathic (sequence analysis of FRMD7 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FRMD7 gene.

More info about this panel

FRMD7-Associated X-linked Congenital Nystagmus 1 (NYS1) via FRMD7 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the FRMD7 gene.

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

FRMD7-Related Infantile Nystagmus Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the FRMD7 gene.

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Ocular / Oculocutaneous Albinism Panel

Germany.

By MGZ Medical Genetics Center Ocular / Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA SLC38A8 FRMD7 OCA2

More info about this panel

Nystagmus type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FRMD7 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

FRMD7 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the FRMD7 gene.

More info about this panel

FRMD7 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FRMD7 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

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel

X-linked congenital nystagmus Panel

Spain.

By Bioarray

This panel specifically test the FRMD7 gene.

More info about this panel

X-Linked Congenital Nystagmus , Sequencing FRMD7 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FRMD7 gene.

More info about this panel

FRMD7-Related Infantile Nystagmus: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the FRMD7 gene.

More info about this panel


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