MCID: CL4001
MIFTS: 5

Col4a1-Related Disorders

Aliases & Classifications for Col4a1-Related Disorders

MalaCards integrated aliases for Col4a1-Related Disorders:

Name: Col4a1-Related Disorders 25
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. Affiliated tissues include brain.

GeneReviews: NBK7046

Related Diseases for Col4a1-Related Disorders

Diseases related to Col4a1-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 11.1
2 familial porencephaly 11.1
3 col4a1-related brain small-vessel disease 11.1
4 brain small vessel disease 1 with or without ocular anomalies 10.1

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:

42
Brain

Publications for Col4a1-Related Disorders

Articles related to Col4a1-Related Disorders:

# Title Authors Year
1
A severe pulmonary complication in a patient with COL4A1-related disorder: A case report. ( 28017902 )
2017

Variations for Col4a1-Related Disorders

ClinVar genetic disease variations for Col4a1-Related Disorders:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COL4A1 NM_001845.4(COL4A1): c.922G> A (p.Gly308Arg) single nucleotide variant Uncertain significance rs370677625 GRCh38 Chromosome 13, 110205388: 110205388
2 COL4A1 NM_001845.4(COL4A1): c.922G> A (p.Gly308Arg) single nucleotide variant Uncertain significance rs370677625 GRCh37 Chromosome 13, 110857735: 110857735

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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