MCID: LKN024
MIFTS: 23

Leukoencephalopathy, Brain Calcifications, and Cysts

Categories: Genetic diseases, Neuronal 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 6 73
Labrune Syndrome 57
Lcc 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
leukoencephalopathy, brain calcifications, and cysts:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



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)

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

Related Diseases for Leukoencephalopathy, Brain Calcifications, and Cysts

Diseases related to Leukoencephalopathy, Brain Calcifications, and Cysts via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 1 11.5
2 lethal congenital contracture syndrome 11.2
3 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
4 hepatocellular carcinoma 11.1
5 lung large cell carcinoma 11.1
6 orofaciodigital syndrome xvi 8.2 LOC105371520 SNORD118 TMEM107

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spasticity
dysarthria
tremor
more

Clinical features from OMIM:

614561

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ataxia 32 HP:0001251
3 spasticity 32 HP:0001257
4 dysarthria 32 HP:0001260
5 global developmental delay 32 HP:0001263
6 mental deterioration 32 HP:0001268
7 gait disturbance 32 HP:0001288
8 dystonia 32 HP:0001332
9 tremor 32 HP:0001337
10 abnormality of extrapyramidal motor function 32 HP:0002071
11 hemiplegia 32 HP:0002301
12 leukoencephalopathy 32 HP:0002352
13 leukodystrophy 32 HP:0002415
14 cerebral calcification 32 HP:0002514
15 abnormal pyramidal signs 32 HP:0007256

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


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

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:

41
Brain, Skin, Bone

Publications for Leukoencephalopathy, Brain Calcifications, and Cysts

Variations for Leukoencephalopathy, Brain Calcifications, and Cysts

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

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SNORD118 NR_033294.1(SNORD118): n.*5C> G single nucleotide variant Pathogenic rs75008470 GRCh38 Chromosome 17, 8173448: 8173448
2 SNORD118 NR_033294.1(SNORD118): n.*5C> G single nucleotide variant Pathogenic rs75008470 GRCh37 Chromosome 17, 8076766: 8076766
3 SNORD118 NR_033294.1(SNORD118): n.-54_-49del deletion Pathogenic rs886039783 GRCh38 Chromosome 17, 8173637: 8173642
4 SNORD118 NR_033294.1(SNORD118): n.-54_-49del deletion Pathogenic rs886039783 GRCh37 Chromosome 17, 8076955: 8076960
5 SNORD118 NR_033294.1(SNORD118): n.-7_22dup duplication Pathogenic rs747057554 GRCh37 Chromosome 17, 8076885: 8076913
6 SNORD118 NR_033294.1(SNORD118): n.-7_22dup duplication Pathogenic rs747057554 GRCh38 Chromosome 17, 8173567: 8173595
7 SNORD118 NR_033294.1(SNORD118): n.57G> A single nucleotide variant Pathogenic rs886039784 GRCh38 Chromosome 17, 8173532: 8173532
8 SNORD118 NR_033294.1(SNORD118): n.57G> A single nucleotide variant Pathogenic rs886039784 GRCh37 Chromosome 17, 8076850: 8076850
9 SNORD118 NR_033294.1(SNORD118): n.58A> G single nucleotide variant Pathogenic rs755495846 GRCh38 Chromosome 17, 8173531: 8173531
10 SNORD118 NR_033294.1(SNORD118): n.58A> G single nucleotide variant Pathogenic rs755495846 GRCh37 Chromosome 17, 8076849: 8076849
11 SNORD118 NR_033294.1(SNORD118): n.145C> T single nucleotide variant Pathogenic rs201787275 GRCh37 Chromosome 17, 8076762: 8076762
12 SNORD118 NR_033294.1(SNORD118): n.145C> T single nucleotide variant Pathogenic rs201787275 GRCh38 Chromosome 17, 8173444: 8173444
13 SNORD118 NR_033294.1(SNORD118): n.20C> T single nucleotide variant Uncertain significance rs545394298 GRCh37 Chromosome 17, 8076887: 8076887
14 SNORD118 NR_033294.1(SNORD118): n.20C> T single nucleotide variant Uncertain significance rs545394298 GRCh38 Chromosome 17, 8173569: 8173569
15 SNORD118 NR_033294.1(SNORD118): n.3C> T single nucleotide variant Uncertain significance rs117735243 GRCh37 Chromosome 17, 8076904: 8076904
16 SNORD118 NR_033294.1(SNORD118): n.3C> T single nucleotide variant Uncertain significance rs117735243 GRCh38 Chromosome 17, 8173586: 8173586

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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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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