MCID: XLN232
MIFTS: 16

X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

MalaCards integrated aliases for X-Linked Alport Syndrome-Diffuse Leiomyomatosis:

Name: X-Linked Alport Syndrome-Diffuse Leiomyomatosis 60
Xq22.3 Microdeletion Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
x-linked alport syndrome-diffuse leiomyomatosis
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q87.8
Orphanet 60 ORPHA1018

Summaries for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

MalaCards based summary : X-Linked Alport Syndrome-Diffuse Leiomyomatosis, also known as xq22.3 microdeletion syndrome, is related to leiomyomatosis and leiomyoma. An important gene associated with X-Linked Alport Syndrome-Diffuse Leiomyomatosis is COL4A5 (Collagen Type IV Alpha 5 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and RNA Polymerase II Transcription Initiation And Promoter Clearance.

Related Diseases for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Diseases related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leiomyomatosis 9.7 COL4A5 COL4A6
2 leiomyoma 9.5 COL4A5 COL4A6

Symptoms & Phenotypes for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Drugs & Therapeutics for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Search Clinical Trials , NIH Clinical Center for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Genetic Tests for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Anatomical Context for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Publications for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Variations for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Expression for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Search GEO for disease gene expression data for X-Linked Alport Syndrome-Diffuse Leiomyomatosis.

Pathways for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Pathways related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 COL4A5 COL4A6
2
Show member pathways
12.44 COL4A5 COL4A6
3
Show member pathways
12.43 COL4A5 COL4A6
4
Show member pathways
12.38 COL4A5 COL4A6
5
Show member pathways
12.3 COL4A5 COL4A6
6 12.22 COL4A5 COL4A6
7
Show member pathways
12.2 COL4A5 COL4A6
8
Show member pathways
12.11 COL4A5 COL4A6
9
Show member pathways
11.99 COL4A5 COL4A6
10
Show member pathways
11.63 COL4A5 COL4A6
11
Show member pathways
11.58 COL4A5 COL4A6
12 11.37 COL4A5 COL4A6
13 11.3 COL4A5 COL4A6
14 11.23 COL4A5 COL4A6
15 10.94 COL4A5 COL4A6
16 10.65 COL4A5 COL4A6
17 10.41 COL4A5 COL4A6
18 10.23 COL4A5 COL4A6

GO Terms for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Cellular components related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.37 COL4A5 COL4A6
2 endoplasmic reticulum lumen GO:0005788 9.32 COL4A5 COL4A6
3 collagen-containing extracellular matrix GO:0062023 9.26 COL4A5 COL4A6
4 basement membrane GO:0005604 9.16 COL4A5 COL4A6
5 collagen trimer GO:0005581 8.96 COL4A5 COL4A6
6 collagen type IV trimer GO:0005587 8.62 COL4A5 COL4A6

Biological processes related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.96 COL4A5 COL4A6
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A5 COL4A6

Molecular functions related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL4A5 COL4A6
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A5 COL4A6

Sources for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

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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