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.

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.

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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


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

More info about this panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Transposition of the great arteries, dextro-looped 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MED13L gene.

More info about this panel

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

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MED13L gene.

More info about this panel

Transposition of the great arteries, dextro-looped 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MED13L gene.

More info about this panel

Congenital Heart Defects Panel Panel

Germany.

By CeGaT GmbH Congenital Heart Defects Panel that also includes the following genes: SEMA3E TBX1 TBX20 TBX3 TBX5 TFAP2B TLL1 ZIC3 ACTC1 CRELD1

More info about this panel

Single gene testing MED13L Panel

Germany.

By CeGaT GmbH

This panel specifically test the MED13L gene.

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Congenital heart diseases Panel Panel

Spain.

By Health in Code Congenital heart diseases Panel that also includes the following genes: BRAF SOS1 TBX1 TBX20 TBX5 TFAP2B TNNI3 MED12 ZIC3 ACTA2

More info about this panel

Invitae Congenital Heart Defects and Heterotaxy Panel Panel

United States.

By Invitae Invitae Congenital Heart Defects and Heterotaxy Panel that also includes the following genes: RIT1 RPGR BRAF SOS1 SPAG1 TBX1 TBX5 RSPH1 ZIC3 CFAP298

More info about this panel

Invitae Congenital Heart Disease Panel Panel

United States.

By Invitae Invitae Congenital Heart Disease Panel that also includes the following genes: RIT1 BRAF SOS1 TBX1 TBX5 ZIC3 NSD1 ACTC1 CRELD1 CBL

More info about this panel

MED13L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MED13L gene.

More info about this panel

CONGENITAL HEART DEFECTS: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS: NGS PANEL that also includes the following genes: TBX1 TBX20 TBX5 ZIC3 ACTC1 CRELD1 ZFPM2 TAB2 CFC1 CITED2

More info about this panel

CONGENITAL HEART DEFECTS Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITAL HEART DEFECTS that also includes the following genes: ZIC3 CFC1 CITED2 MED13L FOXH1 GATA4 GDF1

More info about this panel

CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA) Panel

Spain.

By Laboratorio de Genetica Clinica SL CONGENITALLY UNCORRECTED TRANSPOSITION OF THE GREAT ARTERIES (CCTGA) that also includes the following genes: ZIC3 CFC1 MED13L GDF1

More info about this panel

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

Spain.

By Reference Laboratory Genetics Transposition of the Great Arteries , Panel Massive Sequencing (NGS) GDF1, MED13L Genes that also includes the following genes: MED13L GDF1

More info about this panel


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