COL4A2 gene related symptoms and diseases

All the information presented here about the COL4A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COL4A2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Strabismus Common - Between 50% and 80% cases
Porencephalic cyst Common - Between 50% and 80% cases
Hemiplegia Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with COL4A2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Spasticity
  • Intracranial hemorrhage
  • Global developmental delay
  • Stroke
  • Cerebral hemorrhage
  • Intellectual disability
  • Not very common - Between 30% and 50% cases

  • Dysphasia
  • Cortical dysplasia

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

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Rare diseases associated to COL4A2 gene

Here you will find a list of rare diseases related to the COL4A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH


Alternate names

HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH Is also known as stroke, hemorrhagic, susceptibility to

Most common symptoms of HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH

  • Seizures
  • Hypertension
  • Stroke
  • Lower limb muscle weakness
  • Type II diabetes mellitus


More info about HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH

SOURCES: OMIM MESH

FAMILIAL PORENCEPHALY


Alternate names

FAMILIAL PORENCEPHALY Is also known as t1p, porencephaly, type 1, autosomal dominant, adt1p, hemiplegia, infantile, with porencephaly porencephaly, type 1

Description

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

Most common symptoms of FAMILIAL PORENCEPHALY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


More info about FAMILIAL PORENCEPHALY

SOURCES: OMIM ORPHANET

PORENCEPHALY 2; POREN2


Description

Porencephaly is a neurologic disorder characterized by fluid-filled cysts or cavities in the brain and is thought to result from disturbed vascular supply leading to cerebral degeneration. Affected individuals typically have hemiplegia, seizures, and intellectual disability, although the severity is variable (summary by Yoneda et al., 2012).For a discussion of genetic heterogeneity of porencephaly, see POREN1 (OMIM ).

Most common symptoms of PORENCEPHALY 2; POREN2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Spasticity


More info about PORENCEPHALY 2; POREN2

SOURCES: OMIM


Potential gene panels for COL4A2 gene

Familial Porencephaly Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Familial Porencephaly that also includes the following genes: COL4A1 COL4A2

More info about this panel

COL4A2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL4A2 gene.

More info about this panel

COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS that also includes the following genes: COL4A1 COL4A2

More info about this panel

Porencephaly 2 (sequence analysis of COL4A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the COL4A2 gene.

More info about this panel

Porencephaly 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the COL4A2 gene.

More info about this panel

STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO that also includes the following genes: COL4A1 COL4A2

More info about this panel

Hanac Syndrome Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the COL4A2 gene.

More info about this panel

Familial Porencephaly Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the COL4A2 gene.

More info about this panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11

More info about this panel

Porencephaly Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Porencephaly Deletion / Duplication panel that also includes the following genes: COL4A1 COL4A2

More info about this panel

Porencephaly Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Porencephaly Comprehensive panel that also includes the following genes: COL4A1 COL4A2

More info about this panel

Porencephaly NGS panel Panel

United States.

By Connective Tissue Gene Tests Porencephaly NGS panel that also includes the following genes: COL4A1 COL4A2

More info about this panel

Porencephaly 2 Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL4A2 gene.

More info about this panel

Porencephaly 2 NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL4A2 gene.

More info about this panel

Porencephaly 2 Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL4A2 gene.

More info about this panel

Cerebral small vessel disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Cerebral small vessel disease Comprehensive panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Cerebral small vessel disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Cerebral small vessel disease Deletion / Duplication panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1

More info about this panel

Cerebral small vessel disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Cerebral small vessel disease NGS panel that also includes the following genes: TREX1 COL4A1 COL4A2 CTC1 GLA NOTCH3 HTRA1

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

Cataract Panel

Germany.

By MGZ Medical Genetics Center Cataract that also includes the following genes: BFSP1 BFSP2 SIX6 VIM WFS1 RAB18 FYCO1 JAM3 TBC1D20 CHMP4B

More info about this panel

COL4A2 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the COL4A2 gene.

More info about this panel

Pulmonary diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Vascular and connective tissue diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Vascular and connective tissue diseases - panels that also includes the following genes: AIMP1 BMPR1B BMPR2 SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB TREX1

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome Panel

Germany.

By MGZ Medical Genetics Center Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome that also includes the following genes: B3GLCT COL4A1 COL4A2 CYP1B1 MIR184 SLC38A8 EYA1 FOXC1 FOXE3 LTBP2

More info about this panel

Collagen Type IV-Associated Disorders and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Collagen Type IV-Associated Disorders and Phenocopies that also includes the following genes: JAM3 COL4A1 COL4A2

More info about this panel

Teenager Stroke / Stroke-Like Episodes Panel

Germany.

By MGZ Medical Genetics Center Teenager Stroke / Stroke-Like Episodes that also includes the following genes: TGFB2 TGFBR1 TGFBR2 TREX1 TTR SLC2A10 CACNA1C CBS ADA2 COL3A1

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Porencephaly 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL4A2 gene.

More info about this panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Cerebral small vessel disease Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Cerebral small vessel disease that also includes the following genes: TREX1 COL4A1 COL4A2 GLA NOTCH3 HTRA1

More info about this panel

COL4A2 mutational analysis Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital

This panel specifically test the COL4A2 gene.

More info about this panel

Porencephaly gene panel Panel

Belgium.

By Connective Tissue Laboratory Ghent University Hospital Porencephaly gene panel that also includes the following genes: COL4A1 COL4A2

More info about this panel

COL4A2 - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the COL4A2 gene.

More info about this panel

Hemiplegia/Stroke NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hemiplegia/Stroke NGS Panel that also includes the following genes: SCN1A SLC2A1 CACNA1A COL4A1 COL4A2 NOTCH3 ATP1A2 ATP1A3 OTC POLG

More info about this panel

COL4A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL4A2 gene.

More info about this panel

Collagen Type VI-Related Disorders Panel Panel

Finland.

By Blueprint Genetics Collagen Type VI-Related Disorders Panel that also includes the following genes: COL12A1 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3

More info about this panel

LGMD and Congenital Muscular Dystrophy Panel Panel

Finland.

By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

More info about this panel

Neuronal Migration Disorder Panel Panel

Finland.

By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18

More info about this panel

Hemorrhage, intracerebral, susceptibility to Panel

Spain.

By Bioarray

This panel specifically test the COL4A2 gene.

More info about this panel

FAMILIAL PORENCEPHALY Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL PORENCEPHALY that also includes the following genes: COL4A1 COL4A2

More info about this panel

Porencephaly Type 2 , Sequencing COL4A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL4A2 gene.

More info about this panel

Dolichoectasia , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Dolichoectasia , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: SLC2A10 COL4A1 COL4A2 GAA MMP3

More info about this panel

Porencephaly , Panel Massive Sequencing (NGS) COL4A1, COL4A2 Genes Panel

Spain.

By Reference Laboratory Genetics Porencephaly , Panel Massive Sequencing (NGS) COL4A1, COL4A2 Genes that also includes the following genes: COL4A1 COL4A2

More info about this panel


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