KDM5C gene related symptoms and diseases

All the information presented here about the KDM5C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, 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 KDM5C gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Decreased body weight	Very Common - Between 80% and 100% cases
Hypermetropia	Very Common - Between 80% and 100% cases
Poor speech	Very Common - Between 80% and 100% cases
Paraplegia	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KDM5C gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Smooth philtrum
Falls
Short palm
Short distal phalanx of finger
High, narrow palate
Short foot
Tapered finger
Hypoplasia of the maxilla

And 53 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to KDM5C gene

Here you will find a list of rare diseases related to the KDM5C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Alternate names

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related, mrxsj

Description

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

Most common symptoms of SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Intellectual disability
Seizures
Short stature
Generalized hypotonia
Microcephaly

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

SOURCES: OMIM ORPHANET MESH

Search interest in KDM5C

Potential gene panels for KDM5C gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

KDM5C gene related symptoms and diseases

Top 5 symptoms and clinical features associated to KDM5C gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to KDM5C gene

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Alternate names

Description

Most common symptoms of SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Search interest in KDM5C

Potential gene panels for KDM5C gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

Syndromic Autism Panel Panel

NGS XLID Panel Panel

Hereditary Spastic Paraplegia Panel Panel

X-linked mental retardation Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Hereditary Spastic Paraplegia Exome Panel Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

IDNext Panel

KDM5C gene sequence and deletion/duplication Panel

Mental retardation X-linked, syndromic, Claes-Jensen type (sequence analysis of KDM5C gene) Panel

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

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Intellectual Disability, X-linked, Claes-Jensen Type via KDM5C Gene Sequencing with CNV Detection Panel

Mental retardation - different panels Panel

Neurogenetic Disorders - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Brain Malformations / Neuronal Migration Disorders Panel

Angelman Syndrome and Differential Diagnoses Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Mental retardation X-linked, syndromic, Claes-Jensen type Panel

AllNeuro panel Panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

qCarrier Plus Panel

Invitae Hereditary Spastic Paraplegia X-linked Panel Panel

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

Mental retardation, X-linked, non-syndromic Panel

KDM5C-Related Syndromic X-Linked Mental Retardation: Full Gene Sequencing Panel

KDM5C-Related Syndromic X-Linked Mental Retardation: 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

Epilepsy NGS Panel Panel

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

KDM5C Panel

Idiopathic Generalized Epilepsy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

X-chromosome High Resolution microarray analysis Panel

Hemato-oncology chromosomal microarray Panel

Spastic Paraplegia Panel Panel

X-linked Intellectual Disability Panel Panel

Comprehensive Epilepsy Panel Panel

Focus::Renal® NGS Panel Panel

Solid Tumor Gene Set Panel

Genitourinary Tumors Gene Set Panel

FoundationOne® Heme Panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

X-Linked Mental Retardation Type Claes-Jensen , Sequencing KDM5C Gene Panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

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

X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel

Tempus xT assay Panel

Tempus xO assay Panel