MCID: CL4001
MIFTS: 5

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. 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

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

Publications for Col4a1-Related Disorders

Articles related to Col4a1-Related Disorders:

# Title Authors Year
1
COL4A1-Related Disorders ( 20301768 )
1993

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_001845.5(COL4A1): c.922G> A (p.Gly308Arg) single nucleotide variant Uncertain significance rs370677625 GRCh38 Chromosome 13, 110205388: 110205388
2 COL4A1 NM_001845.5(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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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