NHS gene related symptoms and diseases

All the information presented here about the NHS gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, 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 NHS gene

Symptoms // Phenotype	% Cases
Severe vision loss	Very Common - Between 80% and 100% cases
Sutural cataract	Very Common - Between 80% and 100% cases
Congenital cataract	Very Common - Between 80% and 100% cases
Cataract	Very Common - Between 80% and 100% cases
Glaucoma	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NHS gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Visual impairment
Microphthalmia
Microcornea
Not very common - Between 30% and 50% cases
Posterior Y-sutural cataract
Mesiodens
Multiple impacted teeth
Screwdriver-shaped incisors
Broad finger

And 47 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NHS gene

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

NANCE-HORAN SYNDROME

Alternate names

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome, mesiodens-cataract syndrome, cataract, x-linked, with hutchinsonian teeth

Description

Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

Most common symptoms of NANCE-HORAN SYNDROME

Intellectual disability
Global developmental delay
Nystagmus
Strabismus
Cataract

More info about NANCE-HORAN SYNDROME

SOURCES: ORPHANET OMIM MESH

TOTAL EARLY-ONSET CATARACT

Alternate names

TOTAL EARLY-ONSET CATARACT Is also known as cataract, congenital, x-linked, cataract, congenital total, with posterior sutural opacities in heterozygotes, cxn, cct, cataract 40 with or without microcornea

Most common symptoms of TOTAL EARLY-ONSET CATARACT

Cataract
Visual impairment
Ventricular septal defect
Microphthalmia
Patent ductus arteriosus

More info about TOTAL EARLY-ONSET CATARACT

SOURCES: OMIM ORPHANET

Search interest in NHS

Potential gene panels for NHS 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

NHS gene related symptoms and diseases

Top 5 symptoms and clinical features associated to NHS gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to NHS gene

NANCE-HORAN SYNDROME

Alternate names

Description

Most common symptoms of NANCE-HORAN SYNDROME

TOTAL EARLY-ONSET CATARACT

Alternate names

Most common symptoms of TOTAL EARLY-ONSET CATARACT

Search interest in NHS

Potential gene panels for NHS gene

MitoMet®Plus aCGH Analysis Panel

Syndromic Autism Panel Panel

NGS XLID Panel Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Anophthalmia/microphthalmia Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

CustomNext: Neuro Panel

NHS gene sequence and deletion/duplication Panel

Neurodevelopment-Expanded Panel

IDNext Panel

NHS. Complete sequencing Panel

Cataract 40, X-linked (sequence analysis of NHS gene) Panel

Cataracts (NGS panel for 41 genes) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

Nance-Horan syndrome (sequence analysis of NHS gene) Panel

Congenital Cataracts Sequencing Panel with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

X-linked Nance-Horan Syndrome and Congenital Cataract via NHS Gene Sequencing with CNV Detection Panel

Mental retardation - different panels Panel

Cataract Panel

Eye Diseases - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Cataract panel Panel

Cataract, X-linked Panel

AllNeuro panel Panel

Cataract Panel Panel

Cataract Panel

Eye diseases comprehensive panel Panel

Autism Spectrum Disorders Panel

Invitae Congenital Cataracts Panel Panel

Nance-Horan Syndrome: NHS Full Gene Sequencing Panel

Nance-Horan Syndrome: NHS Gene Deletion/Duplication Panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

Autism Spectrum Disorders: Tier 2 Panel Panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

Autism NGS Panel Panel

XLID NGS Panel Panel

NHS Panel

X-chromosome High Resolution microarray analysis Panel

X-linked Intellectual Disability Panel Panel

Cataract Panel Panel

Linked-X congenital cataract Panel

Congenital Cataract, Autosomal Recessive NGS and Deletion/Duplication Panel Panel

NHS Gene Sequencing and Deletion/Duplication Analysis Panel

X-Linked Congenital Cataract , Sequencing NHS Gene Panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Congenital Cataracts , Panel Massive Sequencing (NGS) 40 Genes Panel