MCID: XLN198
MIFTS: 17

X-Linked Diffuse Leiomyomatosis-Alport Syndrome

Categories: Nephrological diseases, Fetal diseases, Rare diseases

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

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

Name: X-Linked Diffuse Leiomyomatosis-Alport Syndrome 59
Xq22.3 Microdeletion Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
x-linked diffuse leiomyomatosis-alport syndrome
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA1018
ICD10 via Orphanet 34 Q87.8

Summaries for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

MalaCards based summary : X-Linked Diffuse Leiomyomatosis-Alport Syndrome, also known as xq22.3 microdeletion syndrome, is related to alport syndrome, autosomal recessive and leiomyomatosis. An important gene associated with X-Linked Diffuse Leiomyomatosis-Alport Syndrome is COL4A6 (Collagen Type IV Alpha 6 Chain), and among its related pathways/superpathways are Phospholipase-C Pathway and Circadian entrainment.

Related Diseases for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

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

# Related Disease Score Top Affiliating Genes
1 alport syndrome, autosomal recessive 9.4 COL4A5 COL4A6
2 leiomyomatosis 9.3 COL4A5 COL4A6
3 alport syndrome, x-linked 9.2 COL4A5 COL4A6
4 leiomyoma 9.0 COL4A5 COL4A6

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

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

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

Genetic Tests for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

Anatomical Context for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

Publications for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

Variations for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

Expression for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

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

Pathways for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 COL4A5 COL4A6
2
Show member pathways
12.41 COL4A5 COL4A6
3
Show member pathways
12.35 COL4A5 COL4A6
4
Show member pathways
12.28 COL4A5 COL4A6
5
Show member pathways
12.22 COL4A5 COL4A6
6 12.2 COL4A5 COL4A6
7
Show member pathways
12.11 COL4A5 COL4A6
8
Show member pathways
11.99 COL4A5 COL4A6
9
Show member pathways
11.58 COL4A5 COL4A6
10 11.36 COL4A5 COL4A6
11 11.3 COL4A5 COL4A6
12 11.23 COL4A5 COL4A6
13 10.94 COL4A5 COL4A6
14 10.65 COL4A5 COL4A6
15 10.23 COL4A5 COL4A6

GO Terms for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.26 COL4A5 COL4A6
2 collagen trimer GO:0005581 9.16 COL4A5 COL4A6
3 basement membrane GO:0005604 8.96 COL4A5 COL4A6
4 collagen type IV trimer GO:0005587 8.62 COL4A5 COL4A6

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.16 COL4A5 COL4A6
2 collagen catabolic process GO:0030574 8.96 COL4A5 COL4A6
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A5 COL4A6

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.62 COL4A5 COL4A6

Sources for X-Linked Diffuse Leiomyomatosis-Alport Syndrome

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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