LCC
MCID: LKN024
MIFTS: 32

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 57 36 6 39 71
Labrune Syndrome 57 58
Lcc 57 58
Leukoencephalopathy with Calcifications and Cysts 58

Characteristics:

OMIM®:

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

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


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® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Leukoencephalopathy, Brain Calcifications, and Cysts, also known as labrune syndrome, is related to cerebroretinal microangiopathy with calcifications and cysts 1 and hepatocellular carcinoma, 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, and related phenotypes are spasticity and abnormal pyramidal sign

KEGG : 36 Leukoencephalopathy, brain calcifications, and cysts (LCC) is a rare disorder that is radiologically characterized by edematous leukoencephalopathy, cerebral calcifications, and formation of parenchymal cysts. It has been shown that mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause LCC.

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dysarthria
tremor
more

Clinical features from OMIM®:

614561 (Updated 05-Mar-2021)

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

Search Clinical Trials , 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

Publications for Leukoencephalopathy, Brain Calcifications, and Cysts

Articles related to Leukoencephalopathy, Brain Calcifications, and Cysts:

(show all 25)
# Title Authors PMID Year
1
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. 6 57
27571260 2016
2
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 57
22387016 2012
3
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 57
22267198 2012
4
Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. 57
8628470 1996
5
Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene. 61
32400930 2020
6
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab. 61
32911264 2020
7
Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome. 61
33218075 2020
8
18F-FDG PET/CT in Labrune Syndrome. 61
32657880 2020
9
Surgical considerations in Labrune syndrome. 61
32789548 2020
10
Hypermetabolic Syndrome and Dyskinesia After Neurologic Surgery for Labrune Syndrome: A Case Report. 61
32371820 2020
11
Adult-onset leukoencephalopathy, cerebral calcifications, and cysts: An 8-year neuroimaging follow-up of disease progression and histopathological correlation. 61
31447356 2019
12
Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus. 61
30794980 2019
13
Labrune syndrome: A rare cause of reversible hemiparesis. 61
31347599 2019
14
Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations. 61
29984895 2018
15
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
16
Longitudinal clinical and neuro-radiological findings in a patient with leukoencephalopathy with brain calcifications and cysts (Labrune syndrome). 61
29260032 2017
17
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo. 61
28748214 2017
18
Teaching NeuroImages: Adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome). 61
28320930 2017
19
Labrune syndrome: A unique leukoencephalopathy. 61
28298845 2017
20
Leukoencephalopathy, cerebral calcifications and cysts: a family study. 61
25034270 2014
21
Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report. 61
23742313 2013
22
Leukoencephalopathy with cerebral calcifications and cyst: Labrune syndrome. 61
22392118 2012
23
A case of leukoencephalopathy, cerebral calcifications and cysts. 61
22346026 2011
24
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). 61
18076099 2008
25
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 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SNORD118 NM_183065.4(TMEM107):c.*608_*636dup Duplication Pathogenic 265785 rs1555525654 17:8076884-8076885 17:8173566-8173567
2 SNORD118 NM_183065.4(TMEM107):c.*755C>T SNV Pathogenic 265783 rs75008470 17:8076766-8076766 17:8173448-8173448
3 SNORD118 NM_183065.4(TMEM107):c.*561_*566del Deletion Pathogenic 265784 rs886039783 17:8076955-8076960 17:8173637-8173642
4 SNORD118 NM_183065.4(TMEM107):c.*672A>G SNV Pathogenic 265787 rs755495846 17:8076849-8076849 17:8173531-8173531
5 SNORD118 NM_183065.4(TMEM107):c.*671G>A SNV Pathogenic 265786 rs886039784 17:8076850-8076850 17:8173532-8173532
6 SNORD118 NM_001139.3(ALOX12B):c.1275+77_1275+105dup Duplication Pathogenic 929297 17:7980202-7980203 17:8076884-8076885
7 SNORD118 NM_183065.4(TMEM107):c.*545_*826del Deletion Pathogenic 929299 17:8076695-8076976 17:8173377-8173658
8 SNORD118 NM_183065.4(TMEM107):c.*760G>T SNV Pathogenic 929263 17:8076761-8076761 17:8173443-8173443
9 SNORD118 NM_183065.4(TMEM107):c.*755C>G SNV Pathogenic 929264 17:8076766-8076766 17:8173448-8173448
10 SNORD118 NM_183065.4(TMEM107):c.*745C>A SNV Pathogenic 929266 17:8076776-8076776 17:8173458-8173458
11 SNORD118 NM_183065.4(TMEM107):c.*744T>C SNV Pathogenic 929267 17:8076777-8076777 17:8173459-8173459
12 SNORD118 NM_183065.4(TMEM107):c.*741C>G SNV Pathogenic 929268 17:8076780-8076780 17:8173462-8173462
13 SNORD118 NM_183065.4(TMEM107):c.*740C>T SNV Pathogenic 929269 17:8076781-8076781 17:8173463-8173463
14 SNORD118 NM_183065.4(TMEM107):c.*718G>A SNV Pathogenic 929270 17:8076803-8076803 17:8173485-8173485
15 SNORD118 NM_183065.4(TMEM107):c.*717G>A SNV Pathogenic 929271 17:8076804-8076804 17:8173486-8173486
16 SNORD118 NM_183065.4(TMEM107):c.*714T>G SNV Pathogenic 929272 17:8076807-8076807 17:8173489-8173489
17 SNORD118 NM_183065.4(TMEM107):c.*696A>G SNV Pathogenic 929273 17:8076825-8076825 17:8173507-8173507
18 SNORD118 NM_183065.4(TMEM107):c.*695G>C SNV Pathogenic 929274 17:8076826-8076826 17:8173508-8173508
19 SNORD118 NM_183065.4(TMEM107):c.*695G>A SNV Pathogenic 929275 17:8076826-8076826 17:8173508-8173508
20 SNORD118 NM_183065.4(TMEM107):c.*689A>C SNV Pathogenic 929276 17:8076832-8076832 17:8173514-8173514
21 SNORD118 NM_183065.4(TMEM107):c.*689A>G SNV Pathogenic 929277 17:8076832-8076832 17:8173514-8173514
22 SNORD118 NM_183065.4(TMEM107):c.*688G>A SNV Pathogenic 929278 17:8076833-8076833 17:8173515-8173515
23 SNORD118 NM_183065.4(TMEM107):c.*687T>G SNV Pathogenic 929279 17:8076834-8076834 17:8173516-8173516
24 SNORD118 NM_183065.4(TMEM107):c.*686A>G SNV Pathogenic 929280 17:8076835-8076835 17:8173517-8173517
25 SNORD118 NM_183065.4(TMEM107):c.*678G>A SNV Pathogenic 929281 17:8076843-8076843 17:8173525-8173525
26 SNORD118 NM_183065.4(TMEM107):c.*675A>G SNV Pathogenic 929282 17:8076846-8076846 17:8173528-8173528
27 SNORD118 NM_183065.4(TMEM107):c.*674_*675insT Insertion Pathogenic 929283 17:8076846-8076847 17:8173528-8173529
28 SNORD118 NM_183065.4(TMEM107):c.*674G>C SNV Pathogenic 929284 17:8076847-8076847 17:8173529-8173529
29 SNORD118 NM_183065.4(TMEM107):c.*673T>G SNV Pathogenic 929285 17:8076848-8076848 17:8173530-8173530
30 SNORD118 NM_183065.4(TMEM107):c.*672dup Duplication Pathogenic 929286 17:8076848-8076849 17:8173530-8173531
31 SNORD118 NM_183065.4(TMEM107):c.*671G>T SNV Pathogenic 929287 17:8076850-8076850 17:8173532-8173532
32 SNORD118 NM_183065.4(TMEM107):c.*670dup Duplication Pathogenic 929288 17:8076850-8076851 17:8173532-8173533
33 SNORD118 NM_183065.4(TMEM107):c.*656G>A SNV Pathogenic 929289 17:8076865-8076865 17:8173547-8173547
34 SNORD118 NM_183065.4(TMEM107):c.*653G>C SNV Pathogenic 929290 17:8076868-8076868 17:8173550-8173550
35 SNORD118 NM_183065.4(TMEM107):c.*653G>T SNV Pathogenic 929291 17:8076868-8076868 17:8173550-8173550
36 SNORD118 NM_183065.4(TMEM107):c.*622G>C SNV Pathogenic 929292 17:8076899-8076899 17:8173581-8173581
37 SNORD118 NM_183065.4(TMEM107):c.*622G>A SNV Pathogenic 929293 17:8076899-8076899 17:8173581-8173581
38 SNORD118 NM_183065.4(TMEM107):c.*617C>A SNV Pathogenic 929294 17:8076904-8076904 17:8173586-8173586
39 SNORD118 NM_183065.4(TMEM107):c.*616T>C SNV Pathogenic 929295 17:8076905-8076905 17:8173587-8173587
40 SNORD118 NM_001139.3(ALOX12B):c.1275+78G>A SNV Pathogenic 929296 17:7980230-7980230 17:8076912-8076912
41 SNORD118 NM_001139.3(ALOX12B):c.1275+30_1275+35del Deletion Pathogenic 929298 17:7980273-7980278 17:8076955-8076960
42 SNORD118 NM_183065.4(TMEM107):c.*759C>T SNV Pathogenic 265788 rs201787275 17:8076762-8076762 17:8173444-8173444
43 SNORD118 NM_183065.4(TMEM107):c.*751C>T SNV Pathogenic 872120 17:8076770-8076770 17:8173452-8173452
44 SNORD118 NM_183065.4(TMEM107):c.*638C>T SNV Pathogenic 808225 rs368022715 17:8076883-8076883 17:8173565-8173565
45 SNORD118 NM_183065.4(TMEM107):c.*609G>A SNV Likely pathogenic 974788 17:8076912-8076912 17:8173594-8173594
46 SNORD118 NM_183065.4(TMEM107):c.*745C>G SNV Likely pathogenic 929265 17:8076776-8076776 17:8173458-8173458
47 SNORD118 NM_183065.4(TMEM107):c.*617C>T SNV Uncertain significance 522851 rs117735243 17:8076904-8076904 17:8173586-8173586
48 SNORD118 NM_183065.4(TMEM107):c.*634C>T SNV Uncertain significance 522852 rs545394298 17:8076887-8076887 17:8173569-8173569
49 SNORD118 NM_183065.4(TMEM107):c.*733G>T SNV Uncertain significance 973324 17:8076788-8076788 17:8173470-8173470

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

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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
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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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