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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in FRMD7

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

FRMD7 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to FRMD7 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to FRMD7 gene

NYSTAGMUS 1, CONGENITAL, X-LINKED; NYS1

Alternate names

Description

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

Search interest in FRMD7

Potential gene panels for FRMD7 gene

MitoMet®Plus aCGH Analysis Panel

FRMD7 Panel

FRMD7. Complete sequencing Panel

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

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

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

FRMD7-Related Infantile Nystagmus Panel

Eye Diseases - panels Panel

Ocular / Oculocutaneous Albinism Panel

Nystagmus type 1 Panel

AllNeuro panel Panel

FRMD7 single gene sequencing Panel

FRMD7 Panel

Retinal Dystrophy Panel Panel

Neuro-Ophthalmology Panel Panel

X-linked congenital nystagmus Panel

X-Linked Congenital Nystagmus , Sequencing FRMD7 Gene Panel

FRMD7-Related Infantile Nystagmus: gene sequencing Panel