LCC
MCID: LKN024
MIFTS: 36

Leukoencephalopathy, Brain Calcifications, and Cysts (LCC)

Categories: Bone diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Leukoencephalopathy, Brain Calcifications, and Cysts

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

Name: Leukoencephalopathy, Brain Calcifications, and Cysts 57 38 71
Leukoencephalopathy with Calcifications and Cysts 58 28 5
Labrune Syndrome 57 58
Lcc 57 58

Characteristics:


Inheritance:

Leukoencephalopathy, Brain Calcifications, and Cysts: Autosomal recessive 57
Leukoencephalopathy with Calcifications and Cysts: Autosomal recessive 58

Prevelance:

Leukoencephalopathy with Calcifications and Cysts: <1/1000000 (Worldwide) 58

Age Of Onset:

Leukoencephalopathy with Calcifications and Cysts: Adolescent,Adult,Childhood,Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder
later onset has been reported
onset usually in childhood
highly variable severity


HPO:

30
leukoencephalopathy, brain calcifications, and cysts:
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 08-Dec-2022)

MalaCards based summary: Leukoencephalopathy, Brain Calcifications, and Cysts, also known as leukoencephalopathy with calcifications and cysts, is related to cerebroretinal microangiopathy with calcifications and cysts 1 and hepatocellular carcinoma, and has symptoms including ataxia, tremor and abnormality of extrapyramidal motor function. 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 seizure and spasticity

Orphanet: 58 A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.

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:

58 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 58 30 Frequent (79-30%)
HP:0001250
2 spasticity 58 30 Occasional (29-5%)
HP:0001257
3 abnormal pyramidal sign 58 30 Frequent (79-30%)
HP:0007256
4 ataxia 58 30 Frequent (79-30%)
HP:0001251
5 dysarthria 58 30 Occasional (29-5%)
HP:0001260
6 gait disturbance 58 30 Occasional (29-5%)
HP:0001288
7 tremor 58 30 Occasional (29-5%)
HP:0001337
8 cerebral calcification 58 30 Very frequent (99-80%)
HP:0002514
9 global developmental delay 58 30 Occasional (29-5%)
HP:0001263
10 mental deterioration 58 30 Frequent (79-30%)
HP:0001268
11 dystonia 58 30 Occasional (29-5%)
HP:0001332
12 leukoencephalopathy 58 30 Very frequent (99-80%)
HP:0002352
13 emotional lability 58 Frequent (79-30%)
14 increased intracranial pressure 58 Occasional (29-5%)
15 cognitive impairment 58 Frequent (79-30%)
16 stroke 58 Occasional (29-5%)
17 abnormality of extrapyramidal motor function 30 HP:0002071
18 cerebral hemorrhage 58 Occasional (29-5%)
19 leukodystrophy 30 HP:0002415
20 cerebral atrophy 58 Excluded (0%)
21 hemiplegia 30 HP:0002301
22 focal motor seizure 58 Occasional (29-5%)
23 psychotic episodes 58 Very rare (<4-1%)
24 intracranial cystic lesion 58 Very frequent (99-80%)
25 basal ganglia calcification 58 Frequent (79-30%)
26 subcortical white matter calcifications 58 Frequent (79-30%)
27 intracerebral periventricular calcifications 58 Frequent (79-30%)
28 posterior fossa cyst 58 Occasional (29-5%)
29 dense calcifications in the cerebellar dentate nucleus 58 Frequent (79-30%)
30 rosenthal fibers 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
ataxia
dysarthria
tremor
dystonia
more

Clinical features from OMIM®:

614561 (Updated 08-Dec-2022)

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


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

Drugs & Therapeutics for Leukoencephalopathy, Brain Calcifications, and Cysts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network Recruiting NCT03047369

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

Genetic Tests for Leukoencephalopathy, Brain Calcifications, and Cysts

Genetic tests related to Leukoencephalopathy, Brain Calcifications, and Cysts:

# Genetic test Affiliating Genes
1 Leukoencephalopathy with Calcifications and Cysts 28 SNORD118

Anatomical Context for Leukoencephalopathy, Brain Calcifications, and Cysts

Organs/tissues related to Leukoencephalopathy, Brain Calcifications, and Cysts:

MalaCards : Brain, Bone, Skin

Publications for Leukoencephalopathy, Brain Calcifications, and Cysts

Articles related to Leukoencephalopathy, Brain Calcifications, and Cysts:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. 62 57 5
27571260 2016
2
Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review. 62 5
31521395 2020
3
Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations: would this be the mechanism for progressive worsening? 62 5
29984898 2018
4
Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations. 62 5
29984895 2018
5
Longitudinal clinical and neuro-radiological findings in a patient with leukoencephalopathy with brain calcifications and cysts (Labrune syndrome). 62 5
29260032 2017
6
A brother and sister with intellectual disability and characteristic neuroimaging findings. 5
29970281 2018
7
[Clinical features and diagnosis of childhood leukoencephalopathy with cerebral calcifications and cysts in four cases]. 5
29996189 2018
8
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. 5
28177126 2017
9
Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. 57
22387016 2012
10
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 57
22267198 2012
11
Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy. 57
8628470 1996
12
Leukoencephalopathy, calcifications, and cysts: Labrune syndrome. 62
36452891 2023
13
Leukoencephalopathy with calcifications and cysts: a case study with long-term follow-up 62
35942509 2022
14
Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review. 62
34018027 2022
15
Surgical management of leukoencephalopathy with calcifications and cysts. 62
35147867 2022
16
Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease. 62
34986804 2022
17
U8 variants on the brain: a small nucleolar RNA and human disease. 62
35389826 2022
18
Case report: Moderate therapeutic response to Bevacizumab in late-onset Labrune syndrome. 62
36237624 2022
19
Neuroimaging findings in leukoencephalopathy with calcifications and cysts: case report and review of the literature. 62
34482485 2021
20
Leukoencephalopathy With Calcifications and Cysts Associated With SNORD118 Variants. 62
34380746 2021
21
Labrune Syndrome: A Very Rare Association of Leukoencephalopathy, Cerebral Calcifications, and Cysts. 62
34790336 2021
22
A Rare Cause of Generalized Dystonia in Adolescence: Labrune Syndrome. 62
34507476 2021
23
Surgical considerations in Labrune syndrome. 62
32789548 2021
24
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description. 62
32988269 2021
25
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. 62
33029936 2021
26
Apparent Radiological Improvement in an Infant With Labrune Syndrome Treated With Bevacizumab. 62
32911264 2020
27
Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene. 62
32400930 2020
28
Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome. 62
33218075 2020
29
18F-FDG PET/CT in Labrune Syndrome. 62
32657880 2020
30
Hypermetabolic Syndrome and Dyskinesia After Neurologic Surgery for Labrune Syndrome: A Case Report. 62
32371820 2020
31
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts. 62
32359472 2020
32
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 62
31829048 2020
33
Adult-onset leukoencephalopathy, cerebral calcifications, and cysts: An 8-year neuroimaging follow-up of disease progression and histopathological correlation. 62
31447356 2019
34
Leukoencephalopathy, Intracranial Calcifications, Cysts, and SNORD118 Mutation (Labrune Syndrome) with Obstructive Hydrocephalus. 62
30794980 2019
35
Labrune syndrome: A rare cause of reversible hemiparesis. 62
31347599 2019
36
Contribution of QSM Imaging to the Diagnosis of the Rare Syndrome of Leukoencephalopathy with Cysts and Calcification (LCC). 62
28477179 2017
37
Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo. 62
28748214 2017
38
Leukoencephalopathy with calcifications and cysts: A case report. 62
28723803 2017
39
Treatment of Leukoencephalopathy With Calcifications and Cysts With Bevacizumab. 62
28424147 2017
40
Teaching NeuroImages: Adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome). 62
28320930 2017
41
Erratum to Diffuse Brain Hypoperfusion in Advanced Leukoencephalopathy with Calcifications and Cysts: Journal of Stroke and Cerebrovascular Diseases 2016:25(8 August):e111-e113. 62
27816278 2017
42
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. 62
28138155 2017
43
Labrune syndrome: A unique leukoencephalopathy. 62
28298845 2017
44
Leukoencephalopathy with cerebral calcification and cysts: Cases report and literature review. 62
27772754 2016
45
Diffuse Brain Hypoperfusion in Advanced Leukoencephalopathy with Calcifications and Cysts. 62
27212271 2016
46
Late-onset leukoencephalopathy with cerebral calcifications and cysts: case report and review of the literature. 62
26852234 2016
47
Adult-Onset Leukoencephalopathy with Calcifications and Cysts: Focusing on Hemorrhagic Propensity and Cysts Development. 62
26407930 2016
48
Leukoencephalopathy, cerebral calcifications and cysts: a family study. 62
25034270 2014
49
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. 62
24407470 2014
50
Adult-onset leukoencephalopathy, brain calcifications and cysts: a case report. 62
23742313 2013

Variations for Leukoencephalopathy, Brain Calcifications, and Cysts

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

5 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*671G>A SNV Pathogenic
265786 rs886039784 GRCh37: 17:8076850-8076850
GRCh38: 17:8173532-8173532
2 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*653G>T SNV Pathogenic
929291 rs200458465 GRCh37: 17:8076868-8076868
GRCh38: 17:8173550-8173550
3 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*617C>A SNV Pathogenic
929294 rs117735243 GRCh37: 17:8076904-8076904
GRCh38: 17:8173586-8173586
4 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*616T>C SNV Pathogenic
929295 rs368446612 GRCh37: 17:8076905-8076905
GRCh38: 17:8173587-8173587
5 SNORD118, ALOX12B NM_001139.3(ALOX12B):c.1275+78G>A SNV Pathogenic
929296 rs1167153704 GRCh37: 17:7980230-7980230
GRCh38: 17:8076912-8076912
6 SNORD118, ALOX12B NM_001139.3(ALOX12B):c.1275+77_1275+105dup DUP Pathogenic
929297 rs1977096738 GRCh37: 17:7980202-7980203
GRCh38: 17:8076884-8076885
7 SNORD118, ALOX12B NM_001139.3(ALOX12B):c.1275+30_1275+35del DEL Pathogenic
929298 rs1977098048 GRCh37: 17:7980273-7980278
GRCh38: 17:8076955-8076960
8 TMEM107 and overlap with 1 gene(s) NM_183065.4(TMEM107):c.*545_*826del DEL Pathogenic
929299 rs1983743862 GRCh37: 17:8076695-8076976
GRCh38: 17:8173377-8173658
9 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*751C>T SNV Pathogenic
872120 rs117595965 GRCh37: 17:8076770-8076770
GRCh38: 17:8173452-8173452
10 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*686A>G SNV Pathogenic
929280 rs201558321 GRCh37: 17:8076835-8076835
GRCh38: 17:8173517-8173517
11 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*678G>A SNV Pathogenic
929281 rs372252345 GRCh37: 17:8076843-8076843
GRCh38: 17:8173525-8173525
12 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*638C>T SNV Pathogenic
808225 rs368022715 GRCh37: 17:8076883-8076883
GRCh38: 17:8173565-8173565
13 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*622G>C SNV Pathogenic
929292 rs201266955 GRCh37: 17:8076899-8076899
GRCh38: 17:8173581-8173581
14 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*622G>A SNV Pathogenic
929293 rs201266955 GRCh37: 17:8076899-8076899
GRCh38: 17:8173581-8173581
15 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*718G>A SNV Pathogenic
929270 rs201686383 GRCh37: 17:8076803-8076803
GRCh38: 17:8173485-8173485
16 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*755C>T SNV Pathogenic
265783 rs75008470 GRCh37: 17:8076766-8076766
GRCh38: 17:8173448-8173448
17 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*561_*566del DEL Pathogenic
265784 rs886039783 GRCh37: 17:8076955-8076960
GRCh38: 17:8173637-8173642
18 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*653G>C SNV Pathogenic
929290 rs200458465 GRCh37: 17:8076868-8076868
GRCh38: 17:8173550-8173550
19 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*670dup DUP Pathogenic
929288 rs775673578 GRCh37: 17:8076850-8076851
GRCh38: 17:8173532-8173533
20 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*671G>T SNV Pathogenic
929287 rs886039784 GRCh37: 17:8076850-8076850
GRCh38: 17:8173532-8173532
21 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*672dup DUP Pathogenic
929286 rs1983820983 GRCh37: 17:8076848-8076849
GRCh38: 17:8173530-8173531
22 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*673T>G SNV Pathogenic
929285 rs752108301 GRCh37: 17:8076848-8076848
GRCh38: 17:8173530-8173530
23 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*674G>C SNV Pathogenic
929284 rs780396107 GRCh37: 17:8076847-8076847
GRCh38: 17:8173529-8173529
24 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*674_*675insT INSERT Pathogenic
929283 rs757706428 GRCh37: 17:8076846-8076847
GRCh38: 17:8173528-8173529
25 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*675A>G SNV Pathogenic
929282 rs750457525 GRCh37: 17:8076846-8076846
GRCh38: 17:8173528-8173528
26 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*687T>G SNV Pathogenic
929279 rs754874209 GRCh37: 17:8076834-8076834
GRCh38: 17:8173516-8173516
27 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*688G>A SNV Pathogenic
929278 rs372721948 GRCh37: 17:8076833-8076833
GRCh38: 17:8173515-8173515
28 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*689A>G SNV Pathogenic
929277 rs1400162090 GRCh37: 17:8076832-8076832
GRCh38: 17:8173514-8173514
29 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*689A>C SNV Pathogenic
929276 rs1400162090 GRCh37: 17:8076832-8076832
GRCh38: 17:8173514-8173514
30 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*695G>A SNV Pathogenic
929275 rs772667974 GRCh37: 17:8076826-8076826
GRCh38: 17:8173508-8173508
31 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*695G>C SNV Pathogenic
929274 rs772667974 GRCh37: 17:8076826-8076826
GRCh38: 17:8173508-8173508
32 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*714T>G SNV Pathogenic
929272 rs757122064 GRCh37: 17:8076807-8076807
GRCh38: 17:8173489-8173489
33 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*717G>A SNV Pathogenic
929271 rs562912181 GRCh37: 17:8076804-8076804
GRCh38: 17:8173486-8173486
34 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*740C>T SNV Pathogenic
929269 rs144429028 GRCh37: 17:8076781-8076781
GRCh38: 17:8173463-8173463
35 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*741C>G SNV Pathogenic
929268 rs374135155 GRCh37: 17:8076780-8076780
GRCh38: 17:8173462-8173462
36 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*744T>C SNV Pathogenic
929267 rs754582308 GRCh37: 17:8076777-8076777
GRCh38: 17:8173459-8173459
37 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*745C>A SNV Pathogenic
929266 rs746503581 GRCh37: 17:8076776-8076776
GRCh38: 17:8173458-8173458
38 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*755C>G SNV Pathogenic
929264 rs75008470 GRCh37: 17:8076766-8076766
GRCh38: 17:8173448-8173448
39 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*608_*636dup DUP Pathogenic
265785 rs1555525654 GRCh37: 17:8076884-8076885
GRCh38: 17:8173566-8173567
40 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*672A>G SNV Pathogenic
265787 rs755495846 GRCh37: 17:8076849-8076849
GRCh38: 17:8173531-8173531
41 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*760G>T SNV Pathogenic
929263 rs116395281 GRCh37: 17:8076761-8076761
GRCh38: 17:8173443-8173443
42 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*696A>G SNV Pathogenic
929273 rs779456932 GRCh37: 17:8076825-8076825
GRCh38: 17:8173507-8173507
43 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*759C>T SNV Pathogenic
265788 rs201787275 GRCh37: 17:8076762-8076762
GRCh38: 17:8173444-8173444
44 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*656G>A SNV Pathogenic
929289 rs148909909 GRCh37: 17:8076865-8076865
GRCh38: 17:8173547-8173547
45 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*745C>G SNV Likely Pathogenic
929265 rs746503581 GRCh37: 17:8076776-8076776
GRCh38: 17:8173458-8173458
46 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*609G>A SNV Likely Pathogenic
974788 rs200531412 GRCh37: 17:8076912-8076912
GRCh38: 17:8173594-8173594
47 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*733G>T SNV Uncertain Significance
973324 rs186890613 GRCh37: 17:8076788-8076788
GRCh38: 17:8173470-8173470
48 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*617C>T SNV Uncertain Significance
522851 rs117735243 GRCh37: 17:8076904-8076904
GRCh38: 17:8173586-8173586
49 SNORD118, TMEM107 NM_183065.4(TMEM107):c.*634C>T SNV Uncertain Significance
522852 rs545394298 GRCh37: 17:8076887-8076887
GRCh38: 17:8173569-8173569

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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