MED13L gene related symptoms and diseases

All the information presented here about the MED13L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,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 MED13L gene

Symptoms // Phenotype	% Cases
Ventricular septal defect	Common - Between 50% and 80% cases
Abnormal cardiac septum morphology	Common - Between 50% and 80% cases
Transposition of the great arteries	Common - Between 50% and 80% cases
Synophrys	Uncommon - Between 30% and 50% cases
Brachycephaly	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MED13L gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Autism
Mandibular prognathia
Macrotia
High forehead
Retrognathia
Muscular hypotonia of the trunk
Intellectual disability, moderate
Wide mouth

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

Rare diseases associated to MED13L gene

Here you will find a list of rare diseases related to the MED13L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1

Alternate names

TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1 Is also known as d-tga

Description

The more common form of transposition of the great arteries, dextro-looped TGA, consists of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (In the less common type of TGA, levo-looped TGA, the ventricles are inverted instead) (Goldmuntz et al., 2002). This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. Patients with TGA often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.

Most common symptoms of TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1

Ventricular septal defect
Respiratory distress
Abnormal cardiac septum morphology
Cyanosis
Transposition of the great arteries

More info about TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1

SOURCES: OMIM MESH

CARDIAC ANOMALIES-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM SYNDROME

Description

Mental retardation and distinctive facial features with or without cardiac defects (MRFACD) is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries (summary by Adegbola et al., 2015).

Most common symptoms of CARDIAC ANOMALIES-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Ataxia

More info about CARDIAC ANOMALIES-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM SYNDROME

SOURCES: OMIM ORPHANET

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as ar-nsid, ns-arid

More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET

Search interest in MED13L

Potential gene panels for MED13L gene

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

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

MED13L gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MED13L gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to MED13L gene

TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1

Alternate names

Description

Most common symptoms of TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1

CARDIAC ANOMALIES-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM SYNDROME

Description

Most common symptoms of CARDIAC ANOMALIES-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM SYNDROME

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

Search interest in MED13L

Potential gene panels for MED13L gene

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

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Heart Diseases - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Transposition of the great arteries, dextro-looped 1 Panel

Mental retardation and distinctive facial features with or without cardiac defects Panel

Transposition of the great arteries, dextro-looped 1 Panel

Congenital Heart Defects Panel Panel

Single gene testing MED13L Panel

Cardiovascular Diseases_General Panel Panel

Congenital heart diseases Panel Panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

Invitae Congenital Heart Disease Panel Panel

MED13L Panel

CONGENITAL HEART DEFECTS: NGS PANEL Panel

CONGENITAL HEART DEFECTS Panel

CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA) Panel

Transposition of the Great Arteries , Panel Massive Sequencing (NGS) GDF1, MED13L Genes Panel