MCID: CL4001
MIFTS: 12

Col4a1-Related Disorders

Aliases & Classifications for Col4a1-Related Disorders

MalaCards integrated aliases for Col4a1-Related Disorders:

Name: Col4a1-Related Disorders 24
Col4a1-Related Disorder 6

Characteristics:

GeneReviews:

24
Penetrance Penetrance of col4a1-related disorders is probably close to 100%, with expression varying in age of onset and severity of the clinical symptoms, even in the same family; however, these data need verification in larger cohort studies.

Summaries for Col4a1-Related Disorders

MalaCards based summary : Col4a1-Related Disorders, also known as col4a1-related disorder, is related to angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps and familial porencephaly. An important gene associated with Col4a1-Related Disorders is COL4A1 (Collagen Type IV Alpha 1 Chain). Affiliated tissues include brain and kidney.

GeneReviews: NBK7046

Related Diseases for Col4a1-Related Disorders

Graphical network of the top 20 diseases related to Col4a1-Related Disorders:



Diseases related to Col4a1-Related Disorders

Symptoms & Phenotypes for Col4a1-Related Disorders

Drugs & Therapeutics for Col4a1-Related Disorders

Search Clinical Trials , NIH Clinical Center for Col4a1-Related Disorders

Genetic Tests for Col4a1-Related Disorders

Anatomical Context for Col4a1-Related Disorders

MalaCards organs/tissues related to Col4a1-Related Disorders:

41
Brain, Kidney

Publications for Col4a1-Related Disorders

Articles related to Col4a1-Related Disorders:

(show all 38)
# Title Authors PMID Year
1
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. 38 4
20818663 2010
2
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. 4
27190376 2016
3
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. 4
25719457 2015
4
COL4A1 gene mutation--beyond a vascular syndrome. 4
26362372 2015
5
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. 4
25527826 2015
6
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. 4
25228067 2014
7
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 4
24033328 2014
8
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family. 4
25124159 2014
9
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. 4
24390199 2014
10
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 4
23394911 2013
11
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 4
23225343 2013
12
COL4A2 mutation associated with familial porencephaly and small-vessel disease. 4
22333902 2012
13
Childhood presentation of COL4A1 mutations. 4
22574627 2012
14
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. 4
22209246 2012
15
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. 4
22209247 2012
16
COL4A1 mutations associated with a characteristic pattern of intracranial calcification. 4
22134833 2011
17
Ophthalmological features associated with COL4A1 mutations. 4
20385946 2010
18
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. 4
19477666 2010
19
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. 4
19949034 2009
20
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 4
18160688 2007
21
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 4
17660820 2007
22
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 4
17696175 2007
23
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 4
17379824 2007
24
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 4
16107487 2006
25
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 4
16598045 2006
26
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. 4
16374828 2006
27
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 4
15905400 2005
28
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. 4
11438888 2001
29
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). 4
9371916 1997
30
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. 4
8878478 1996
31
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. 38
31230195 2019
32
Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review. 38
28628708 2017
33
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. 38
28017902 2017
34
Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation. 38
24861536 2016
35
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease. 38
26260163 2016
36
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 38
25873210 2015
37
Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. 38
21062344 2011
38
COL4A1-Related Disorders 38
20301768 2009

Variations for Col4a1-Related Disorders

ClinVar genetic disease variations for Col4a1-Related Disorders:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COL4A1 NM_001845.6(COL4A1): c.922G> A (p.Gly308Arg) single nucleotide variant Uncertain significance rs370677625 13:110857735-110857735 13:110205388-110205388

Expression for Col4a1-Related Disorders

Search GEO for disease gene expression data for Col4a1-Related Disorders.

Pathways for Col4a1-Related Disorders

GO Terms for Col4a1-Related Disorders

Sources for Col4a1-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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