KMT2D gene related symptoms and diseases

All the information presented here about the KMT2D gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, 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 KMT2D gene

Symptoms // Phenotype	% Cases
Seizures	Common - Between 50% and 80% cases
Immunodeficiency	Common - Between 50% and 80% cases
Coloboma	Common - Between 50% and 80% cases
Abnormal cardiac septum morphology	Common - Between 50% and 80% cases
Highly arched eyebrow	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with KMT2D gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Hypodontia
Microdontia
Congenital diaphragmatic hernia
Coarctation of aorta
Blue sclerae
Abnormal dermatoglyphics
Hydronephrosis
Short stature

And 210 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to KMT2D gene

Here you will find a list of rare diseases related to the KMT2D. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

KABUKI SYNDROME

Alternate names

KABUKI SYNDROME Is also known as kabuki make-up syndrome, niikawa-kuroki syndrome

Description

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

Most common symptoms of KABUKI SYNDROME

Seizures
Short stature
Microcephaly
Scoliosis
Nystagmus

More info about KABUKI SYNDROME

SOURCES: ORPHANET

KABUKI SYNDROME 1; KABUK1

Alternate names

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome, kabuki make-up syndrome, kms, niikawa-kuroki syndrome

Description

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

Most common symptoms of KABUKI SYNDROME 1; KABUK1

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about KABUKI SYNDROME 1; KABUK1

SOURCES: OMIM

SÉZARY SYNDROME

Alternate names

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Description

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

Most common symptoms of SÉZARY SYNDROME

Neoplasm
Abnormal facial shape
Peripheral neuropathy
Hepatomegaly
Fever

More info about SÉZARY SYNDROME

SOURCES: MESH ORPHANET

Search interest in KMT2D

Potential gene panels for KMT2D 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

KMT2D gene related symptoms and diseases

Top 5 symptoms and clinical features associated to KMT2D gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to KMT2D gene

KABUKI SYNDROME

Alternate names

Description

Most common symptoms of KABUKI SYNDROME

KABUKI SYNDROME 1; KABUK1

Alternate names

Description

Most common symptoms of KABUKI SYNDROME 1; KABUK1

SÉZARY SYNDROME

Alternate names

Description

Most common symptoms of SÉZARY SYNDROME

Search interest in KMT2D

Potential gene panels for KMT2D gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel

Kabuki Syndrome, MLL2 Sequencing Panel

Non-immune Hydrops Panel Panel

Lysosomal Storage Disease Panel Panel

Coffin-Siris Syndrome Panel Panel

Kabuki Syndrome (KDM6A, MLL2) Panel

Kabuki syndrome Panel

Comprehensive Kabuki Syndrome Panel Panel

MLL2 sequencing Panel

Comprehensive Familial Hyperinsulinism Panel Panel

MLL2 deletion/duplication analysis Panel

Congenital Hypothyroidism Deletion/Duplication Panel Panel

Congenital Hypothyroidism Sequencing Panel Panel

Kabuki Syndrome (KMT2D) Sequencing Panel

KMT2D Gene Sequencing Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

MLL2. MLPA testing Panel

MLL2. NextGeneDx.Complete sequencing by NGS Panel

MLL2. Complete sequencing Panel

MLL2, KDM6A. NextGeneDx. Complete sequencing by NGS Panel

Kabuki Seq + Del/Dup Panel Panel

Kabuki Del/ Dup Panel Panel

Kabuki Seq Analysis Panel

Kabuki syndrome (sequence analysis of KMT2D gene) Panel

Kabuki syndrome (deletion/duplication analysis of KMT2D gene) Panel

KABUKI SYNDROME Panel

Kabuki Syndrome via KMT2D Gene Sequencing with CNV Detection Panel

Kabuki Syndrome Sequencing Panel with CNV Detection Panel

Comprehensive Monogenic Obesity Panel with CNV Detection Panel

Kabuki syndrome NGS test Panel

Kabuki syndrome Comprehensive test Panel

Kabuki syndrome Deletion / Duplication test Panel

Kabuki syndrome Panel

Mental retardation - different panels Panel

Kabuki Syndrome Panel

Heart Diseases - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Solid Tumor Panel Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Kabuki syndrome type 1 Panel

Selected Genetic Syndromes with Seizures Panel Panel

Kabuki Syndrome Panel

Cardiovascular Diseases_General Panel Panel

Congenital heart diseases Panel Panel

Kabuki Syndrome Panel

qGenEx Craniofacial Anomalies Panel

Invitae Kabuki Syndrome Panel Panel

Kabuki syndrome: MLL2 gene sequence analysis Panel

Kabuki syndrome: MLL2 gene deletions-duplications analysis (MLPA) Panel

Kabuki syndrome Panel

Kabuki Syndrome: MLL2 Full Gene Sequencing Panel

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel

Kabuki Syndrome: KMT2D and KDM6A Deletion/Duplication Panel Panel

Epilepsy NGS Panel Panel

KMT2D Panel

Comprehensive Epilepsy NGS Panel Panel

Kabuki Syndrome Panel Panel