PADMAL
MCID: MCR378
MIFTS: 24

Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant (PADMAL)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

MalaCards integrated aliases for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant:

Name: Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant 57 73 29 6
Padmal 57 58 73
Pontine Autosomal Dominant Microangiopathy with Leukoencephalopathy 58
Dementia, Hereditary Multi-Infarct, Swedish Type 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
onset of recurrent ischemic strokes in late thirties or early forties
pontine predilection of ischemic strokes


HPO:

31
microangiopathy and leukoencephalopathy, pontine, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 618564
MeSH 44 D059345
Orphanet 58 ORPHA477749
SNOMED-CT via HPO 68 263681008 52448006

Summaries for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

OMIM® : 57 Autosomal dominant pontine microangiopathy and leukoencephalopathy (PADMAL) is a form of cerebral small vessel disease (cSVD) resulting in the onset of recurrent ischemic strokes in the thirties or forties. Affected individuals develop progressive, but variable, cognitive and motor impairment, consistent with progressive multi-infarct dementia. Brain imaging shows lacunar infarcts, often with a pontine predilection, as well as diffuse leukoencephalopathy affecting various brain regions. Although there are overlapping clinical features, the disorder is genetically and pathologically distinct from CADASIL (125310) (summary by Verdura et al., 2016). (618564) (Updated 05-Mar-2021)

MalaCards based summary : Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant, also known as padmal, is related to cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1. An important gene associated with Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant is COL4A1 (Collagen Type IV Alpha 1 Chain). Affiliated tissues include pons, smooth muscle and brain, and related phenotypes are dementia and postural instability

UniProtKB/Swiss-Prot : 73 Microangiopathy and leukoencephalopathy, pontine, autosomal dominant: A form of cerebral small vessel disease characterized by the recurrence of ischemic strokes starting in the thirties or forties, and associated with progressive imbalance and cognitive impairment. MRI examination shows ischemic lacunas in the pons and cerebral hemispheres, and diffuse leukoencephalopathy affecting various brain regions.

Related Diseases for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

Diseases related to Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.0

Symptoms & Phenotypes for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

Human phenotypes related to Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 dementia 31 very rare (1%) HP:0000726
2 postural instability 31 very rare (1%) HP:0002172
3 hyperintensity of cerebral white matter on mri 31 very rare (1%) HP:0030890

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
leukoencephalopathy
frequent falls
unstable gait
ischemic stroke, recurrent
cognitive impairment, progressive
more
Cardiovascular Vascular:
cerebral small vessel disease
focal disruptions of the basement membrane of small vessels
thickened basement membrane of small vessels
abnormal accumulation of extracellular matrix proteins in the subendothelial spaces between vascular smooth muscle cells of small vessels
thickened and poorly dense lamina densa
more

Clinical features from OMIM®:

618564 (Updated 05-Mar-2021)

Drugs & Therapeutics for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

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

Genetic Tests for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

Genetic tests related to Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant 29 COL4A1

Anatomical Context for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

MalaCards organs/tissues related to Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant:

40
Pons, Smooth Muscle, Brain

Publications for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

Articles related to Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant:

(show all 12)
# Title Authors PMID Year
1
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy. 61 57 6
27666438 2016
2
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1. 57 6
28369186 2017
3
Subcortical angiopathic encephalopathy in a German kindred suggests an autosomal dominant disorder distinct from CADASIL. 57 6
15221337 2004
4
Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease. 6 57
906807 1977
5
MRI features of pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL). 61 57
19187480 2010
6
Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL. 57
17235124 2007
7
Recurrent Pontine Strokes in a Young Male. 61
33254373 2020
8
Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology. 61
32196841 2020
9
Hereditary cerebral small vessel disease and stroke. 61
28254515 2017
10
Microvascular pathology and morphometrics of sporadic and hereditary small vessel diseases of the brain. 61
25323665 2014
11
Quantitative vascular pathology and phenotyping familial and sporadic cerebral small vessel diseases. 61
23387519 2013
12
Hereditary and non-hereditary microangiopathies in the young. An up-date. 61
20851424 2010

Variations for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

ClinVar genetic disease variations for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A1 COL4A1, +31G-T, 3-PRIME UTR SNV Pathogenic 689433
2 COL4A1 COL4A1, +32G-T, 3-PRIME UTR SNV Pathogenic 689434
3 COL4A1 COL4A1, +32G-A, 3-PRIME UTR SNV Pathogenic 689435
4 COL4A1 NM_001845.6(COL4A1):c.*35C>A SNV Pathogenic 689432 13:110802675-110802675 13:110150328-110150328
5 COL4A1 NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer) Deletion Likely pathogenic 827790 rs1594566751 13:110845180-110845180 13:110192833-110192833
6 COL4A1 NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn) SNV Uncertain significance 807045 rs773778552 13:110844602-110844602 13:110192255-110192255
7 COL4A1 NM_001845.6(COL4A1):c.1771G>A (p.Val591Ile) SNV Uncertain significance 976164 13:110838858-110838858 13:110186511-110186511

Expression for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

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

Pathways for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

GO Terms for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

Sources for Microangiopathy and Leukoencephalopathy, Pontine, Autosomal...

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