MCID: XLN232
MIFTS: 28

X-Linked Alport Syndrome-Diffuse Leiomyomatosis

Categories: Ear diseases, Eye diseases, 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 58
X-Linked Diffuse Leiomyomatosis-Alport Syndrome 29
Xq22.3 Microdeletion Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked alport syndrome-diffuse leiomyomatosis
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

MalaCards based summary : X-Linked Alport Syndrome-Diffuse Leiomyomatosis, also known as x-linked diffuse leiomyomatosis-alport syndrome, is related to x-linked alport syndrome and alport syndrome, and has symptoms including constipation and dyspnea. 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. Affiliated tissues include eye, kidney and smooth muscle, and related phenotypes are dysphagia and esophageal neoplasm

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 x-linked alport syndrome 9.8 COL4A6 COL4A5
2 alport syndrome 9.8 COL4A6 COL4A5
3 leiomyoma 9.7 COL4A6 COL4A5
4 leiomyomatosis 9.7 COL4A6 COL4A5
5 x-linked nonsyndromic deafness 9.7 COL4A6 COL4A5
6 autosomal dominant alport syndrome 9.7 COL4A6 COL4A5
7 autosomal recessive alport syndrome 9.7 COL4A6 COL4A5
8 porencephaly 9.6 COL4A6 COL4A5
9 hematuria, benign familial 9.6 COL4A6 COL4A5
10 sensorineural hearing loss 9.5 COL4A6 COL4A5

Graphical network of the top 20 diseases related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis:



Diseases related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis

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

Human phenotypes related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
2 esophageal neoplasm 58 31 hallmark (90%) Very frequent (99-80%) HP:0100751
3 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
4 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
5 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
6 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
7 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
8 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
9 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
10 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
11 achalasia 58 31 frequent (33%) Frequent (79-30%) HP:0002571
12 diffuse leiomyomatosis 58 31 frequent (33%) Frequent (79-30%) HP:0006756
13 smooth muscle antibody positivity 58 31 frequent (33%) Frequent (79-30%) HP:0003262
14 dyspepsia 58 31 frequent (33%) Frequent (79-30%) HP:0410281
15 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
16 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
17 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
18 fibroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0010614
19 cough 58 31 occasional (7.5%) Occasional (29-5%) HP:0012735
20 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
21 keratitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000491
22 esophageal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010450
23 aspiration pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011951
24 vaginal neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100650
25 uterine neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010784
26 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
27 nasogastric tube feeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0040288
28 tracheobronchial leiomyomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006524
29 anterior lenticonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011501
30 vulvar neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0030416
31 precordial pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0032141
32 abnormality of the eye 58 Frequent (79-30%)
33 chest pain 58 Frequent (79-30%)
34 chronic kidney disease 58 Frequent (79-30%)
35 morphological abnormality of the gastrointestinal tract 58 Very frequent (99-80%)
36 abnormality of the female genitalia 58 Frequent (79-30%)
37 hypoperistalsis 58 Frequent (79-30%)
38 abnormal respiratory system morphology 58 Occasional (29-5%)
39 abnormal esophagus morphology 58 Very frequent (99-80%)

UMLS symptoms related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis:


constipation; dyspnea

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

Genetic tests related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis:

# Genetic test Affiliating Genes
1 X-Linked Diffuse Leiomyomatosis-Alport Syndrome 29

Anatomical Context for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

MalaCards organs/tissues related to X-Linked Alport Syndrome-Diffuse Leiomyomatosis:

40
Eye, Kidney, Smooth Muscle

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.45 COL4A6 COL4A5
2
Show member pathways
12.43 COL4A6 COL4A5
3
Show member pathways
12.38 COL4A6 COL4A5
4
Show member pathways
12.3 COL4A6 COL4A5
5
Show member pathways
12.24 COL4A6 COL4A5
6 12.22 COL4A6 COL4A5
7
Show member pathways
12.13 COL4A6 COL4A5
8
Show member pathways
12.05 COL4A6 COL4A5
9
Show member pathways
11.99 COL4A6 COL4A5
10
Show member pathways
11.6 COL4A6 COL4A5
11 11.38 COL4A6 COL4A5
12 11.32 COL4A6 COL4A5
13 11.22 COL4A6 COL4A5
14 10.94 COL4A6 COL4A5
15 10.65 COL4A6 COL4A5
16 10.43 COL4A6 COL4A5
17 10.23 COL4A6 COL4A5

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

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 COL4A6 COL4A5
2 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.62 COL4A6 COL4A5

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 COL4A6 COL4A5
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A6 COL4A5

Sources for X-Linked Alport Syndrome-Diffuse Leiomyomatosis

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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