LCC
MCID: LKN028
MIFTS: 14

Leukoencephalopathy with Calcifications and Cysts (LCC)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy with Calcifications and Cysts

MalaCards integrated aliases for Leukoencephalopathy with Calcifications and Cysts:

Name: Leukoencephalopathy with Calcifications and Cysts 59
Labrune Syndrome 59
Lcc 59

Classifications:

Orphanet: 59  
Rare neurological diseases


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Orphanet 59 ORPHA542310

Summaries for Leukoencephalopathy with Calcifications and Cysts

MalaCards based summary : Leukoencephalopathy with Calcifications and Cysts, also known as labrune syndrome, is related to lethal congenital contracture syndrome 1 and lethal congenital contracture syndrome. An important gene associated with Leukoencephalopathy with Calcifications and Cysts is SNORD118 (Small Nucleolar RNA, C/D Box 118). Affiliated tissues include brain.

Related Diseases for Leukoencephalopathy with Calcifications and Cysts

Graphical network of the top 20 diseases related to Leukoencephalopathy with Calcifications and Cysts:



Diseases related to Leukoencephalopathy with Calcifications and Cysts

Symptoms & Phenotypes for Leukoencephalopathy with Calcifications and Cysts

Drugs & Therapeutics for Leukoencephalopathy with Calcifications and Cysts

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy with Calcifications and Cysts

Genetic Tests for Leukoencephalopathy with Calcifications and Cysts

Anatomical Context for Leukoencephalopathy with Calcifications and Cysts

MalaCards organs/tissues related to Leukoencephalopathy with Calcifications and Cysts:

41
Brain

Publications for Leukoencephalopathy with Calcifications and Cysts

Articles related to Leukoencephalopathy with Calcifications and Cysts:

(show all 27)
# Title Authors PMID Year
1
Labrune syndrome: A rare cause of reversible hemiparesis. 38
31347599 2019
2
Leukoencephalopathy, intracranial calcifications, cysts and SNORD118 mutation (Labrune Syndrome) with obstructive hydrocephalus. 38
30794980 2019
3
Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations: would this be the mechanism for progressive worsening? 38
29984898 2018
4
Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations. 38
29984895 2018
5
Contribution of QSM Imaging to the Diagnosis of the Rare Syndrome of Leukoencephalopathy with Cysts and Calcification (LCC). 38
28477179 2017
6
Longitudinal clinical and neuro-radiological findings in a patient with leukoencephalopathy with brain calcifications and cysts (Labrune syndrome). 38
29260032 2017
7
Leukoencephalopathy with calcifications and cysts: A case report. 38
28723803 2017
8
Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab. 38
28424147 2017
9
Teaching NeuroImages: Adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome). 38
28320930 2017
10
Erratum to Diffuse Brain Hypoperfusion in Advanced Leukoencephalopathy with Calcifications and Cysts: Journal of Stroke and Cerebrovascular Diseases 2016:25(8 August):e111-e113. 38
27816278 2017
11
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. 38
28138155 2017
12
Labrune syndrome: A unique leukoencephalopathy. 38
28298845 2017
13
Leukoencephalopathy with cerebral calcification and cysts: Cases report and literature review. 38
27772754 2016
14
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. 38
27571260 2016
15
Diffuse Brain Hypoperfusion in Advanced Leukoencephalopathy with Calcifications and Cysts. 38
27212271 2016
16
Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature. 38
26852234 2016
17
Adult-Onset Leukoencephalopathy with Calcifications and Cysts: Focusing on Hemorrhagic Propensity and Cysts Development. 38
26407930 2016
18
Leukoencephalopathy, cerebral calcifications and cysts: a family study. 38
25034270 2014
19
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. 38
24407470 2014
20
Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report. 38
23742313 2013
21
Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome. 38
22392118 2012
22
Clinical and radiological characteristics in multiple sclerosis patients with large cavitary lesions. 38
22907640 2012
23
A new form of leukoencephalopathy with calcifications and cysts with nonrecessive inheritance and absence of gadolinium enhancement. 38
22261615 2012
24
A case of leukoencephalopathy, cerebral calcifications and cysts. 38
22346026 2011
25
Cerebral leukoencephalopathy with calcifications and cysts operated for signs of increased intracranial pressure: case report. 38
18514290 2009
26
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). 38
18076099 2008
27
Cerebroretinal microangiopathy with calcifications and cysts. 38
16943371 2006

Variations for Leukoencephalopathy with Calcifications and Cysts

Expression for Leukoencephalopathy with Calcifications and Cysts

Search GEO for disease gene expression data for Leukoencephalopathy with Calcifications and Cysts.

Pathways for Leukoencephalopathy with Calcifications and Cysts

GO Terms for Leukoencephalopathy with Calcifications and Cysts

Sources for Leukoencephalopathy with Calcifications and Cysts

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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