MCID: PNT040
MIFTS: 5

Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Pontine Autosomal Dominant Microangiopathy with...

MalaCards integrated aliases for Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy:

Name: Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy 59
Padmal 59

Classifications:

Orphanet: 59  
Rare neurological diseases


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Orphanet 59 ORPHA477749

Summaries for Pontine Autosomal Dominant Microangiopathy with...

MalaCards based summary : Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy, is also known as padmal. An important gene associated with Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy is COL4A1 (Collagen Type IV Alpha 1 Chain).

Related Diseases for Pontine Autosomal Dominant Microangiopathy with...

Symptoms & Phenotypes for Pontine Autosomal Dominant Microangiopathy with...

Drugs & Therapeutics for Pontine Autosomal Dominant Microangiopathy with...

Search Clinical Trials , NIH Clinical Center for Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy

Genetic Tests for Pontine Autosomal Dominant Microangiopathy with...

Anatomical Context for Pontine Autosomal Dominant Microangiopathy with...

Publications for Pontine Autosomal Dominant Microangiopathy with...

Articles related to Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy:

# Title Authors Year
1
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy. ( 27666438 )
2016

Variations for Pontine Autosomal Dominant Microangiopathy with...

Expression for Pontine Autosomal Dominant Microangiopathy with...

Search GEO for disease gene expression data for Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy.

Pathways for Pontine Autosomal Dominant Microangiopathy with...

GO Terms for Pontine Autosomal Dominant Microangiopathy with...

Sources for Pontine Autosomal Dominant Microangiopathy with...

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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