LCC
MCID: LKN024
MIFTS: 30

Leukoencephalopathy, Brain Calcifications, and Cysts (LCC)

Categories: Bone diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy, Brain Calcifications, and Cysts

MalaCards integrated aliases for Leukoencephalopathy, Brain Calcifications, and Cysts:

Name: Leukoencephalopathy, Brain Calcifications, and Cysts 56 6 71
Labrune Syndrome 56 58
Lcc 56 58
Leukoencephalopathy with Calcifications and Cysts 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset usually in childhood
highly variable severity
later onset has been reported


HPO:

31
leukoencephalopathy, brain calcifications, and cysts:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Leukoencephalopathy, Brain Calcifications, and Cysts

OMIM : 56 Leukoencephalopathy, brain calcifications, and cysts (LCC), also known as Labrune syndrome, is characterized by a constellation of features restricted to the central nervous system, including leukoencephalopathy, brain calcifications, and cysts, resulting in spasticity, dystonia, seizures, and cognitive decline (summary by Labrune et al., 1996). See also cerebroretinal microangiopathy with calcifications and cysts (CRMCC; 612199), an autosomal recessive disorder caused by mutation in the CTC1 gene (613129) that shows phenotypic similarities to Labrune syndrome. CRMCC includes the neurologic findings of intracranial calcifications, leukodystrophy, and brain cysts, but also includes retinal vascular abnormalities and other systemic manifestations, such as osteopenia with poor bone healing, a high risk of gastrointestinal bleeding, hair, skin, and nail changes, and anemia and thrombocytopenia. Although Coats plus syndrome and Labrune syndrome were initially thought to be manifestations of the same disorder, namely CRMCC, molecular evidence has excluded mutations in the CTC1 gene in patients with Labrune syndrome, suggesting that the 2 disorders are not allelic (Anderson et al., 2012; Polvi et al., 2012). (614561)

MalaCards based summary : Leukoencephalopathy, Brain Calcifications, and Cysts, also known as labrune syndrome, is related to lethal congenital contracture syndrome 1 and cerebroretinal microangiopathy with calcifications and cysts 1, and has symptoms including seizures, ataxia and tremor. An important gene associated with Leukoencephalopathy, Brain Calcifications, and Cysts is SNORD118 (Small Nucleolar RNA, C/D Box 118). Affiliated tissues include brain, bone and skin, and related phenotypes are seizures and ataxia

Related Diseases for Leukoencephalopathy, Brain Calcifications, and Cysts

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



Diseases related to Leukoencephalopathy, Brain Calcifications, and Cysts

Symptoms & Phenotypes for Leukoencephalopathy, Brain Calcifications, and Cysts

Human phenotypes related to Leukoencephalopathy, Brain Calcifications, and Cysts:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 ataxia 31 HP:0001251
3 spasticity 31 HP:0001257
4 dysarthria 31 HP:0001260
5 gait disturbance 31 HP:0001288
6 tremor 31 HP:0001337
7 cerebral calcification 31 HP:0002514
8 abnormal pyramidal sign 31 HP:0007256
9 global developmental delay 31 HP:0001263
10 dystonia 31 HP:0001332
11 mental deterioration 31 HP:0001268
12 abnormality of extrapyramidal motor function 31 HP:0002071
13 hemiplegia 31 HP:0002301
14 leukoencephalopathy 31 HP:0002352
15 leukodystrophy 31 HP:0002415

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
ataxia
spasticity
dysarthria
tremor
more

Clinical features from OMIM:

614561

UMLS symptoms related to Leukoencephalopathy, Brain Calcifications, and Cysts:


seizures, ataxia, tremor, abnormality of extrapyramidal motor function, hemiplegia, muscle spasticity, abnormal pyramidal signs

Drugs & Therapeutics for Leukoencephalopathy, Brain Calcifications, and Cysts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History Recruiting NCT04089995

Search NIH Clinical Center for Leukoencephalopathy, Brain Calcifications, and Cysts

Genetic Tests for Leukoencephalopathy, Brain Calcifications, and Cysts

Anatomical Context for Leukoencephalopathy, Brain Calcifications, and Cysts

MalaCards organs/tissues related to Leukoencephalopathy, Brain Calcifications, and Cysts:

40
Brain, Bone, Skin

Publications for Leukoencephalopathy, Brain Calcifications, and Cysts

Articles related to Leukoencephalopathy, Brain Calcifications, and Cysts:

(show all 19)
# Title Authors PMID Year
1
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. 6 56
27571260 2016
2
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 56
22387016 2012
3
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 56
22267198 2012
4
Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. 56
8628470 1996
5
Adult-onset leukoencephalopathy, cerebral calcifications, and cysts: An 8-year neuroimaging follow-up of disease progression and histopathological correlation. 61
31447356 2019
6
Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus. 61
30794980 2019
7
Labrune syndrome: A rare cause of reversible hemiparesis. 61
31347599 2019
8
Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations. 61
29984895 2018
9
Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations: would this be the mechanism for progressive worsening? 61
29984898 2018
10
Longitudinal clinical and neuro-radiological findings in a patient with leukoencephalopathy with brain calcifications and cysts (Labrune syndrome). 61
29260032 2017
11
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo. 61
28748214 2017
12
Teaching NeuroImages: Adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome). 61
28320930 2017
13
Labrune syndrome: A unique leukoencephalopathy. 61
28298845 2017
14
Leukoencephalopathy, cerebral calcifications and cysts: a family study. 61
25034270 2014
15
Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report. 61
23742313 2013
16
Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome. 61
22392118 2012
17
A case of leukoencephalopathy, cerebral calcifications and cysts. 61
22346026 2011
18
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). 61
18076099 2008
19
Leukoencephalopathy, cerebral calcifications, and cysts: new observations. 61
15079028 2004

Variations for Leukoencephalopathy, Brain Calcifications, and Cysts

ClinVar genetic disease variations for Leukoencephalopathy, Brain Calcifications, and Cysts:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNORD118 NM_183065.4(TMEM107):c.*561_*566deldeletion Pathogenic 265784 rs886039783 17:8076955-8076960 17:8173637-8173642
2 SNORD118 NM_183065.4(TMEM107):c.*608_*636dupduplication Pathogenic 265785 rs1555525654 17:8076885-8076913 17:8173567-8173595
3 SNORD118 NM_183065.4(TMEM107):c.*671G>ASNV Pathogenic 265786 rs886039784 17:8076850-8076850 17:8173532-8173532
4 SNORD118 NM_183065.4(TMEM107):c.*672A>GSNV Pathogenic 265787 rs755495846 17:8076849-8076849 17:8173531-8173531
5 SNORD118 NM_183065.4(TMEM107):c.*759C>TSNV Likely pathogenic 265788 rs201787275 17:8076762-8076762 17:8173444-8173444
6 SNORD118 NM_183065.4(TMEM107):c.*634C>TSNV Uncertain significance 522852 rs545394298 17:8076887-8076887 17:8173569-8173569
7 SNORD118 NM_183065.4(TMEM107):c.*617C>TSNV Uncertain significance 522851 rs117735243 17:8076904-8076904 17:8173586-8173586
8 SNORD118 , TMEM107 NM_183065.4(TMEM107):c.*755C>TSNV Uncertain significance 265783 rs75008470 17:8076766-8076766 17:8173448-8173448

Expression for Leukoencephalopathy, Brain Calcifications, and Cysts

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

Pathways for Leukoencephalopathy, Brain Calcifications, and Cysts

GO Terms for Leukoencephalopathy, Brain Calcifications, and Cysts

Sources for Leukoencephalopathy, Brain Calcifications, and Cysts

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....