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:

40
Brain, Kidney

Publications for Col4a1-Related Disorders

Articles related to Col4a1-Related Disorders:

(show all 40)
# Title Authors PMID Year
1
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. 61 24
20818663 2010
2
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. 24
27190376 2016
3
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. 24
25719457 2015
4
COL4A1 gene mutation--beyond a vascular syndrome. 24
26362372 2015
5
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. 24
25527826 2015
6
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. 24
25228067 2014
7
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24
24033328 2014
8
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family. 24
25124159 2014
9
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. 24
24390199 2014
10
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 24
23394911 2013
11
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 24
23225343 2013
12
COL4A2 mutation associated with familial porencephaly and small-vessel disease. 24
22333902 2012
13
Childhood presentation of COL4A1 mutations. 24
22574627 2012
14
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. 24
22209246 2012
15
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. 24
22209247 2012
16
COL4A1 mutations associated with a characteristic pattern of intracranial calcification. 24
22134833 2011
17
Ophthalmological features associated with COL4A1 mutations. 24
20385946 2010
18
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. 24
19477666 2010
19
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. 24
19949034 2009
20
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 24
18160688 2007
21
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 24
17660820 2007
22
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 24
17696175 2007
23
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 24
17379824 2007
24
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 24
16107487 2006
25
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 24
16598045 2006
26
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. 24
16374828 2006
27
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 24
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. 24
11438888 2001
29
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). 24
9371916 1997
30
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. 24
8878478 1996
31
Expanding the phenotype of COL4A1-related disorders-Four novel variants. 61
32565002 2020
32
Life-threatening muscle complications of COL4A1-related disorder. 61
31540749 2020
33
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. 61
31230195 2019
34
Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review. 61
28628708 2017
35
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. 61
28017902 2017
36
Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation. 61
24861536 2016
37
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease. 61
26260163 2016
38
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 61
25873210 2015
39
Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. 61
21062344 2011
40
COL4A1-Related Disorders 61
20301768 2009

Variations for Col4a1-Related Disorders

ClinVar genetic disease variations for Col4a1-Related Disorders:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A1 NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg)SNV Uncertain significance 423149 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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