MCID: CL4001
MIFTS: 19

Col4a1-Related Disorders

Aliases & Classifications for Col4a1-Related Disorders

MalaCards integrated aliases for Col4a1-Related Disorders:

Name: Col4a1-Related Disorders 25 6
Col4a1-Related Disorder 6

Characteristics:

GeneReviews:

25
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 eye.

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
Eye

Publications for Col4a1-Related Disorders

Articles related to Col4a1-Related Disorders:

(show all 49)
# Title Authors PMID Year
1
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. 25 6 61
20818663 2010
2
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. 25 6
25228067 2014
3
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation. 6 25
23394911 2013
4
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. 6 25
23225343 2013
5
Childhood presentation of COL4A1 mutations. 25 6
22574627 2012
6
Ophthalmological features associated with COL4A1 mutations. 25 6
20385946 2010
7
COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. 6 25
18160688 2007
8
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. 6 25
17696175 2007
9
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly. 6 25
16107487 2006
10
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. 6 25
16598045 2006
11
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. 6 25
15905400 2005
12
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. 61 6
28017902 2017
13
Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. 6
24628545 2014
14
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency. 6
23065703 2013
15
COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. 6
19194877 2009
16
Familial retinal arterial tortuosity associated with tortuosity in nail bed capillaries. 6
17030722 2006
17
Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. 6
15136694 2004
18
Hereditary porencephaly: clinical and MRI findings in two Dutch families. 6
15023374 2004
19
Familial porencephalic white matter disease in two generations. 6
6428250 1984
20
Hereditary diseases of the eye in a study of blind and partially sighted. 6
7257746 1981
21
A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. 25
27190376 2016
22
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. 25
25719457 2015
23
COL4A1 gene mutation--beyond a vascular syndrome. 25
26362372 2015
24
Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. 25
25527826 2015
25
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 25
24033328 2014
26
A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family. 25
25124159 2014
27
COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy. 25
24390199 2014
28
COL4A2 mutation associated with familial porencephaly and small-vessel disease. 25
22333902 2012
29
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. 25
22209247 2012
30
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. 25
22209246 2012
31
COL4A1 mutations associated with a characteristic pattern of intracranial calcification. 25
22134833 2011
32
A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. 25
19477666 2010
33
Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. 25
19949034 2009
34
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 25
17660820 2007
35
COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage. 25
17379824 2007
36
Neonatal porencephaly and adult stroke related to mutations in collagen IV A1. 25
16374828 2006
37
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3. 25
11438888 2001
38
Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). 25
9371916 1997
39
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. 25
8878478 1996
40
A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant. 61
33491999 2021
41
Expanding the phenotype of COL4A1-related disorders-Four novel variants. 61
32565002 2020
42
Life-threatening muscle complications of COL4A1-related disorder. 61
31540749 2020
43
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. 61
31230195 2019
44
Brain Calcifications in Adult-Onset Genetic Leukoencephalopathies: A Review. 61
28628708 2017
45
Severe Hemolytic Jaundice in a Neonate with a Novel COL4A1 Mutation. 61
24861536 2016
46
HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease. 61
26260163 2016
47
Two families with novel missense mutations in COL4A1: When diagnosis can be missed. 61
25873210 2015
48
Review: molecular genetics and pathology of hereditary small vessel diseases of the brain. 61
21062344 2011
49
COL4A1-Related Disorders 61
20301768 2009

Variations for Col4a1-Related Disorders

ClinVar genetic disease variations for Col4a1-Related Disorders:

6 (show top 50) (show all 473)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A1 NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) SNV Pathogenic 17412 rs113994112 13:110822930-110822930 13:110170583-110170583
2 COL4A1 NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) SNV Pathogenic 17414 rs121912857 13:110839528-110839528 13:110187181-110187181
3 COL4A1 NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) SNV Pathogenic 17415 rs113994103 13:110959374-110959374 13:110307027-110307027
4 COL4A1 NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) SNV Pathogenic 17416 rs113994111 13:110826810-110826810 13:110174463-110174463
5 COL4A1 NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) SNV Pathogenic 17417 rs113994113 13:110814772-110814772 13:110162425-110162425
6 COL4A1 NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) SNV Pathogenic 17418 rs113994104 13:110844604-110844604 13:110192257-110192257
7 COL4A1 NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) SNV Pathogenic 17419 rs113994105 13:110839658-110839658 13:110187311-110187311
8 COL4A1 NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) SNV Pathogenic 17420 rs113994106 13:110839630-110839630 13:110187283-110187283
9 COL4A1 NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) SNV Pathogenic 17422 rs113994114 13:110807647-110807647 13:110155300-110155300
10 COL4A1 NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg) SNV Pathogenic 18462 rs267606744 13:110844605-110844605 13:110192258-110192258
11 COL4A1 NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) SNV Pathogenic 18463 rs267606743 13:110844569-110844569 13:110192222-110192222
12 COL4A1 NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu) Indel Pathogenic 18464 rs281865426 13:110839639-110839640 13:110187292-110187293
13 COL4A1 NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) SNV Pathogenic 38962 rs113994107 13:110838860-110838860 13:110186513-110186513
14 COL4A1 NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) SNV Pathogenic 17421 rs113994108 13:110833673-110833673 13:110181326-110181326
15 COL4A1 NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) SNV Pathogenic 132791 rs587777379 13:110818624-110818624 13:110166277-110166277
16 COL4A1 NM_001845.6(COL4A1):c.2085del (p.Gly696fs) Deletion Pathogenic 161440 rs606231464 13:110835350-110835350 13:110183003-110183003
17 COL4A1 NM_001845.6(COL4A1):c.2194-1G>A SNV Pathogenic 161441 rs606231465 13:110831769-110831769 13:110179422-110179422
18 COL4A1 NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) SNV Pathogenic 161974 rs672601346 13:110831699-110831699 13:110179352-110179352
19 COL4A1 NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) SNV Pathogenic 161975 rs672601347 13:110831645-110831645 13:110179298-110179298
20 COL4A1 NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) SNV Pathogenic 161976 rs672601348 13:110804728-110804728 13:110152381-110152381
21 COL4A1 NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) SNV Pathogenic 161977 rs672601349 13:110833710-110833710 13:110181363-110181363
22 COL4A1 NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) SNV Pathogenic 440782 rs1555302922 13:110827659-110827659 13:110175312-110175312
23 COL4A1 NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) SNV Pathogenic 17421 rs113994108 13:110833673-110833673 13:110181326-110181326
24 COL4A1 NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) SNV Pathogenic 389182 rs1057523354 13:110831734-110831734 13:110179387-110179387
25 COL4A1 NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) SNV Pathogenic 161974 rs672601346 13:110831699-110831699 13:110179352-110179352
26 COL4A1 NM_001845.6(COL4A1):c.1353dup (p.Gly452fs) Duplication Pathogenic 807559 rs1594568948 13:110847397-110847398 13:110195050-110195051
27 COL4A1 NM_001845.6(COL4A1):c.921dup (p.Gly308fs) Duplication Pathogenic 807560 rs1594579579 13:110857735-110857736 13:110205388-110205389
28 COL4A1 NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys) SNV Pathogenic 982405 13:110804766-110804766 13:110152419-110152419
29 COL4A1 NM_001845.6(COL4A1):c.1937del (p.Gly646fs) Deletion Pathogenic 974459 13:110835584-110835584 13:110183237-110183237
30 COL4A1 NM_001845.6(COL4A1):c.3112G>A (p.Gly1038Ser) SNV Pathogenic 974460 13:110827651-110827651 13:110175304-110175304
31 COL4A1 NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg) SNV Pathogenic 989300 13:110830429-110830429 13:110178082-110178082
32 COL4A1 NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) SNV Pathogenic 17413 rs113994109 13:110831717-110831717 13:110179370-110179370
33 COL4A1 NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) SNV Likely pathogenic 983450 13:110827077-110827077 13:110174730-110174730
34 COL4A1 NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe) SNV Likely pathogenic 992987 13:110828813-110828813 13:110176466-110176466
35 COL4A1 NM_001845.6(COL4A1):c.1793G>T (p.Gly598Val) SNV Likely pathogenic 974458 13:110838836-110838836 13:110186489-110186489
36 COL4A1 NM_001845.6(COL4A1):c.4151G>A (p.Gly1384Asp) SNV Likely pathogenic 974461 13:110815908-110815908 13:110163561-110163561
37 COL4A1 NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser) SNV Likely pathogenic 982414 13:110825067-110825067 13:110172720-110172720
38 COL4A1 NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu) SNV Likely pathogenic 872928
39 COL4A1 NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu) SNV Likely pathogenic 978038 13:110831278-110831278 13:110178931-110178931
40 COL4A1 NM_001845.6(COL4A1):c.3068G>C (p.Gly1023Ala) SNV Likely pathogenic 975100 13:110827695-110827695 13:110175348-110175348
41 COL4A1 NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu) SNV Likely pathogenic 976758 13:110826987-110826987 13:110174640-110174640
42 COL4A1 NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer) Deletion Likely pathogenic 827790 rs1594566751 13:110845180-110845180 13:110192833-110192833
43 COL4A1 NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) SNV Likely pathogenic 864857 13:110829259-110829259 13:110176912-110176912
44 COL4A1 NM_001845.6(COL4A1):c.1834G>C (p.Gly612Arg) SNV Likely pathogenic 803000 rs1594560766 13:110838795-110838795 13:110186448-110186448
45 COL4A1 NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg) SNV Likely pathogenic 637033 rs1594555106 13:110833647-110833647 13:110181300-110181300
46 COL4A1 NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) SNV Likely pathogenic 522668 rs747585517 13:110838822-110838822 13:110186475-110186475
47 COL4A1 NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg) SNV Likely pathogenic 627579 rs1461754052 13:110845204-110845204 13:110192857-110192857
48 COL4A1 NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) SNV Likely pathogenic 374263 rs1057518654 13:110825068-110825068 13:110172721-110172721
49 COL4A1 NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) SNV Likely pathogenic 434810 rs1555303720 13:110835357-110835357 13:110183010-110183010
50 COL4A1 NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) SNV Likely pathogenic 209141 rs797045034 13:110830243-110830243 13:110177896-110177896

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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