MCID: CL4005
MIFTS: 5

Col4a1-Related Brain Small-Vessel Disease

Categories: Neuronal diseases

Aliases & Classifications for Col4a1-Related Brain Small-Vessel Disease

MalaCards integrated aliases for Col4a1-Related Brain Small-Vessel Disease:

Name: Col4a1-Related Brain Small-Vessel Disease 25
Brain Small-Vessel Disease with Hemorrhage 25

Classifications:



Summaries for Col4a1-Related Brain Small-Vessel Disease

Genetics Home Reference : 25 COL4A1-related brain small-vessel disease is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel disease is characterized by weakening of the blood vessels in the brain. Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) rather than a lack of blood flow in the brain (ischemic stroke), although either type can occur. Individuals with this condition are at increased risk of having more than one stroke in their lifetime. People with COL4A1-related brain small vessel disease also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras.

MalaCards based summary : Col4a1-Related Brain Small-Vessel Disease, also known as brain small-vessel disease with hemorrhage, is related to brain small vessel disease with or without ocular anomalies. An important gene associated with Col4a1-Related Brain Small-Vessel Disease is COL4A1 (Collagen Type IV Alpha 1 Chain). Affiliated tissues include brain.

Related Diseases for Col4a1-Related Brain Small-Vessel Disease

Diseases related to Col4a1-Related Brain Small-Vessel Disease via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 brain small vessel disease with or without ocular anomalies 11.5

Symptoms & Phenotypes for Col4a1-Related Brain Small-Vessel Disease

Drugs & Therapeutics for Col4a1-Related Brain Small-Vessel Disease

Search Clinical Trials , NIH Clinical Center for Col4a1-Related Brain Small-Vessel Disease

Genetic Tests for Col4a1-Related Brain Small-Vessel Disease

Anatomical Context for Col4a1-Related Brain Small-Vessel Disease

MalaCards organs/tissues related to Col4a1-Related Brain Small-Vessel Disease:

39
Brain

Publications for Col4a1-Related Brain Small-Vessel Disease

Variations for Col4a1-Related Brain Small-Vessel Disease

ClinVar genetic disease variations for Col4a1-Related Brain Small-Vessel Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 COL4A1 NM_001845.5(COL4A1): c.1685G> A (p.Gly562Glu) single nucleotide variant Pathogenic rs121912857 GRCh37 Chromosome 13, 110839528: 110839528
2 COL4A1 NM_001845.5(COL4A1): c.2159G> A (p.Gly720Asp) single nucleotide variant Pathogenic rs113994108 GRCh37 Chromosome 13, 110833673: 110833673
3 COL4A1 NM_001845.5(COL4A1): c.1769G> A (p.Gly590Glu) single nucleotide variant Pathogenic rs113994107 GRCh37 Chromosome 13, 110838860: 110838860
4 COL4A1 NM_001845.5(COL4A1): c.2086G> A (p.Gly696Ser) single nucleotide variant Pathogenic/Likely pathogenic rs587780588 GRCh37 Chromosome 13, 110835349: 110835349
5 COL4A1 NM_001845.5(COL4A1): c.2085delC (p.Gly696Alafs) deletion Pathogenic rs606231464 GRCh38 Chromosome 13, 110183003: 110183003
6 COL4A1 NM_001845.5(COL4A1): c.2194-1G> A single nucleotide variant Pathogenic rs606231465 GRCh38 Chromosome 13, 110179422: 110179422
7 COL4A1 NM_001845.5(COL4A1): c.2263G> A (p.Gly755Arg) single nucleotide variant Pathogenic rs672601346 GRCh37 Chromosome 13, 110831699: 110831699
8 COL4A1 NM_001845.5(COL4A1): c.2317G> C (p.Gly773Arg) single nucleotide variant Pathogenic rs672601347 GRCh37 Chromosome 13, 110831645: 110831645
9 COL4A1 NM_001845.5(COL4A1): c.4881C> G (p.Asn1627Lys) single nucleotide variant Pathogenic rs672601348 GRCh38 Chromosome 13, 110152381: 110152381
10 COL4A1 NM_001845.5(COL4A1): c.2122G> A (p.Gly708Arg) single nucleotide variant Pathogenic rs672601349 GRCh38 Chromosome 13, 110181363: 110181363

Expression for Col4a1-Related Brain Small-Vessel Disease

Search GEO for disease gene expression data for Col4a1-Related Brain Small-Vessel Disease.

Pathways for Col4a1-Related Brain Small-Vessel Disease

GO Terms for Col4a1-Related Brain Small-Vessel Disease

Sources for Col4a1-Related Brain Small-Vessel Disease

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