COL4A1 gene related symptoms and diseases

All the information presented here about the COL4A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,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 COL4A1 gene

Symptoms // Phenotype	% Cases
Seizures	Common - Between 50% and 80% cases
Dilatation	Common - Between 50% and 80% cases
Muscle cramps	Uncommon - Between 30% and 50% cases
Leukoencephalopathy	Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with COL4A1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Cerebral hemorrhage
Stroke
Cataract
Strabismus
Global developmental delay
Renal cyst
Hemiparesis
Hydrocephalus

And 212 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to COL4A1 gene

Here you will find a list of rare diseases related to the COL4A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Alternate names

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage, leukoencephalopathy with axenfeld-rieger anomaly, brain small vessel disease with axenfeld-rieger anomaly, brain small vessel disease with hemorrhage, infantile hemiparesis, retinal arteriolar tortuosi

Description

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

Most common symptoms of COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Seizures
Global developmental delay
Hearing impairment
Microcephaly
Nystagmus

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

SOURCES: ORPHANET MESH OMIM

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

SCHIZENCEPHALY

Description

Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).

Most common symptoms of SCHIZENCEPHALY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about SCHIZENCEPHALY

SOURCES: ORPHANET OMIM

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

WALKER-WARBURG SYNDROME

Alternate names

WALKER-WARBURG SYNDROME Is also known as hard syndrome, cerebroocular dysplasia-muscular dystrophy syndrome, hydrocephalus, agyria, and retinal dysplasia, walker-warburg syndrome or muscle-eye-brain disease, pomt1-related, wws, hydrocephalus-agyria-retinal dysplasia syndrome, cod-md syndrome

Description

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

Most common symptoms of WALKER-WARBURG SYNDROME

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about WALKER-WARBURG SYNDROME

SOURCES: ORPHANET OMIM

HANAC SYNDROME

Alternate names

HANAC SYNDROME Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome, autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Description

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

Most common symptoms of HANAC SYNDROME

Seizures
Strabismus
Cataract
Flexion contracture
Visual impairment

More info about HANAC SYNDROME

SOURCES: MESH OMIM ORPHANET

RETINAL ARTERIAL TORTUOSITY

Alternate names

RETINAL ARTERIAL TORTUOSITY Is also known as retinal hemorrhage with vascular tortuosity, retinal arteriolar tortuosity, tortuosity of retinal arteries

Description

Familial retinal arterial tortuosity is characterized by marked tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system. Two-thirds of patients experience variable degrees of symptomatic transient vision loss due to retinal hemorrhage following minor stress or trauma (summary by Nischler et al., 2011).

Most common symptoms of RETINAL ARTERIAL TORTUOSITY

Visual impairment
Dilatation
Visual loss
Photophobia
Hypopigmentation of the skin

More info about RETINAL ARTERIAL TORTUOSITY

SOURCES: OMIM ORPHANET

PONTINE AUTOSOMAL DOMINANT MICROANGIOPATHY WITH LEUKOENCEPHALOPATHY

Alternate names

PONTINE AUTOSOMAL DOMINANT MICROANGIOPATHY WITH LEUKOENCEPHALOPATHY Is also known as padmal

More info about PONTINE AUTOSOMAL DOMINANT MICROANGIOPATHY WITH LEUKOENCEPHALOPATHY

SOURCES: ORPHANET

FAMILIAL SCHIZENCEPHALY

More info about FAMILIAL SCHIZENCEPHALY

SOURCES: ORPHANET

Search interest in COL4A1

Potential gene panels for COL4A1 gene

COL4A1 Sequencing Test (CSVD) Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the COL4A1 gene.

COL4A1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to COL4A1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to COL4A1 gene

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Alternate names

Description

Most common symptoms of COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH

Alternate names

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

SCHIZENCEPHALY

Description

Most common symptoms of SCHIZENCEPHALY

FAMILIAL PORENCEPHALY

Alternate names

Description

Most common symptoms of FAMILIAL PORENCEPHALY

WALKER-WARBURG SYNDROME

Alternate names

Description

Most common symptoms of WALKER-WARBURG SYNDROME

HANAC SYNDROME

Alternate names

Description

Most common symptoms of HANAC SYNDROME

RETINAL ARTERIAL TORTUOSITY

Alternate names

Description

Most common symptoms of RETINAL ARTERIAL TORTUOSITY

PONTINE AUTOSOMAL DOMINANT MICROANGIOPATHY WITH LEUKOENCEPHALOPATHY

Alternate names

FAMILIAL SCHIZENCEPHALY

Search interest in COL4A1

Potential gene panels for COL4A1 gene

COL4A1 Sequencing Test (CSVD) Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Optic Atrophy and Early Glaucoma Panel Panel

Comprehensive Brain Malformation Panel Panel

Migraine and Strokes Panel Panel

Septo-Optic Dysplasia and Schizencephaly Panel

Anophthalmia/microphthalmia Panel

Anterior segment defects Panel

Red Blood Cell Membrane Disorders panel by next-generation sequencing (NGS) Panel

Hemolytic Anemia Panel by next-generation sequencing (NGS) Panel

COL4A1 Sequencing Panel

Dystonia Exome Panel Panel

Familial Porencephaly Panel

COL4A1. Complete sequencing Panel

COL4A1. Complete sequencing Panel

COL4A1, COL4A2. NextGeneDx. Complete sequencing by NGS Panel

Porencephaly 1 (sequence analysis of COL4A1 gene) Panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes) Panel

Brain small vessel disease with hemorrhage Panel

Porencephaly 1 Panel

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle Panel

STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO Panel

COL4A1-Related Disorders Panel

Porencephaly 1 Panel

Axenfeld-Rieger Syndrome Sequencing Panel with CNV Detection Panel

Glaucoma Sequencing Panel with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel

Porencephaly Deletion / Duplication panel Panel

Porencephaly Comprehensive panel Panel

Porencephaly NGS panel Panel

Porencephaly 1 Comprehensive Test Panel

Porencephaly 1 NGS Test Panel

Porencephaly 1 Deletion / Duplication Test Panel

Cerebral small vessel disease Comprehensive panel Panel

Cerebral small vessel disease Deletion / Duplication panel Panel

Cerebral small vessel disease NGS panel Panel

Mental retardation - different panels Panel

Hereditary kidney disorders - different panels Panel

Cataract Panel

COL4A1-Related Disorders Panel