MCID: LKN008
MIFTS: 24

Leukoencephalopathy, Cystic, Without Megalencephaly

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy, Cystic, Without Megalencephaly

MalaCards integrated aliases for Leukoencephalopathy, Cystic, Without Megalencephaly:

Name: Leukoencephalopathy, Cystic, Without Megalencephaly 57 75 29 13 6 40
Cystic Leukoencephalopathy Without Megalencephaly 59 37
Clwm 59
Lcwm 75

Characteristics:

Orphanet epidemiological data:

59
cystic leukoencephalopathy without megalencephaly
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first year of life
phenotype is indistinguishable from congenital cytomegalovirus (cmv) infection
stable or slowly progressive course


HPO:

32
leukoencephalopathy, cystic, without megalencephaly:
Onset and clinical course infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 612951
Orphanet 59 ORPHA85136
MESH via Orphanet 45 C567845
UMLS via Orphanet 74 C2751843
ICD10 via Orphanet 34 E75.2
MedGen 42 C2751843
MeSH 44 D056784
KEGG 37 H00878

Summaries for Leukoencephalopathy, Cystic, Without Megalencephaly

UniProtKB/Swiss-Prot : 75 Leukoencephalopathy, cystic, without megalencephaly: An infantile-onset syndrome of cerebral leukoencephalopathy. Affected newborns develop microcephaly and neurologic abnormalities including psychomotor impairment, seizures and sensorineural hearing impairment. The brain shows multifocal white matter lesions, anterior temporal lobe subcortical cysts, pericystic abnormal myelination, ventriculomegaly and intracranial calcifications.

MalaCards based summary : Leukoencephalopathy, Cystic, Without Megalencephaly, also known as cystic leukoencephalopathy without megalencephaly, is related to rnase t2-deficient leukoencephalopathy. An important gene associated with Leukoencephalopathy, Cystic, Without Megalencephaly is RNASET2 (Ribonuclease T2). Affiliated tissues include temporal lobe and brain, and related phenotypes are microcephaly and doll-like facies

Description from OMIM: 612951

Related Diseases for Leukoencephalopathy, Cystic, Without Megalencephaly

Diseases related to Leukoencephalopathy, Cystic, Without Megalencephaly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rnase t2-deficient leukoencephalopathy 11.3

Symptoms & Phenotypes for Leukoencephalopathy, Cystic, Without Megalencephaly

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Head And Neck Ears:
hearing loss, sensorineural

Head And Neck Face:
doll-like facies

Neurologic Central Nervous System:
seizures
ataxia
spasticity
dystonia
ventriculomegaly
more
Head And Neck Head:
microcephaly (some)

Laboratory Abnormalities:
no evidence of perinatal infection


Clinical features from OMIM:

612951

Human phenotypes related to Leukoencephalopathy, Cystic, Without Megalencephaly:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 doll-like facies 32 occasional (7.5%) HP:0000295
3 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
4 nystagmus 32 occasional (7.5%) HP:0000639
5 delayed speech and language development 32 occasional (7.5%) HP:0000750
6 seizures 32 occasional (7.5%) HP:0001250
7 ataxia 32 occasional (7.5%) HP:0001251
8 spasticity 32 occasional (7.5%) HP:0001257
9 dystonia 32 occasional (7.5%) HP:0001332
10 ventriculomegaly 32 occasional (7.5%) HP:0002119
11 athetosis 32 occasional (7.5%) HP:0002305
12 leukoencephalopathy 32 occasional (7.5%) HP:0002352
13 poor speech 32 HP:0002465
14 cerebral calcification 32 occasional (7.5%) HP:0002514
15 focal white matter lesions 32 HP:0007042
16 severe global developmental delay 32 occasional (7.5%) HP:0011344
17 abnormal cns myelination 32 occasional (7.5%) HP:0011400

Drugs & Therapeutics for Leukoencephalopathy, Cystic, Without Megalencephaly

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy, Cystic, Without Megalencephaly

Genetic Tests for Leukoencephalopathy, Cystic, Without Megalencephaly

Genetic tests related to Leukoencephalopathy, Cystic, Without Megalencephaly:

# Genetic test Affiliating Genes
1 Leukoencephalopathy, Cystic, Without Megalencephaly 29 RNASET2

Anatomical Context for Leukoencephalopathy, Cystic, Without Megalencephaly

MalaCards organs/tissues related to Leukoencephalopathy, Cystic, Without Megalencephaly:

41
Temporal Lobe, Brain

Publications for Leukoencephalopathy, Cystic, Without Megalencephaly

Articles related to Leukoencephalopathy, Cystic, Without Megalencephaly:

# Title Authors Year
1
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-GoutiA"res syndrome. ( 27091087 )
2016
2
Congenital cytomegalovirus infection resembling cystic leukoencephalopathy without megalencephaly. ( 20434699 )
2010
3
Cystic leukoencephalopathy without megalencephaly. ( 18545798 )
2008
4
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children. ( 15851732 )
2005

Variations for Leukoencephalopathy, Cystic, Without Megalencephaly

UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy, Cystic, Without Megalencephaly:

75
# Symbol AA change Variation ID SNP ID
1 RNASET2 p.Cys184Arg VAR_063596 rs121918137

ClinVar genetic disease variations for Leukoencephalopathy, Cystic, Without Megalencephaly:

6
(show top 50) (show all 69)
# Gene Variation Type Significance SNP ID Assembly Location
1 RNASET2 NM_003730.4(RNASET2): c.550T> C (p.Cys184Arg) single nucleotide variant Pathogenic rs121918137 GRCh37 Chromosome 6, 167344549: 167344549
2 RNASET2 NM_003730.4(RNASET2): c.550T> C (p.Cys184Arg) single nucleotide variant Pathogenic rs121918137 GRCh38 Chromosome 6, 166931061: 166931061
3 RNASET2 RNASET2, 2.5-KB DEL deletion Pathogenic
4 RNASET2 RNASET2, IVS5AS, A-G, -2 single nucleotide variant Pathogenic
5 RNASET2 RNASET2, 1-BP DEL, 332+1G deletion Pathogenic
6 RNASET2 RNASET2, 15-BP DEL deletion Pathogenic
7 RNASET2 RNASET2, 567G-A single nucleotide variant Pathogenic
8 RNASET2 NM_003730.4(RNASET2): c.741C> A (p.Phe247Leu) single nucleotide variant Uncertain significance rs140357917 GRCh37 Chromosome 6, 167343106: 167343106
9 RNASET2 NM_003730.4(RNASET2): c.741C> A (p.Phe247Leu) single nucleotide variant Uncertain significance rs140357917 GRCh38 Chromosome 6, 166929618: 166929618
10 RNASET2 NM_003730.4(RNASET2): c.652G> A (p.Glu218Lys) single nucleotide variant Uncertain significance rs202105909 GRCh37 Chromosome 6, 167343195: 167343195
11 RNASET2 NM_003730.4(RNASET2): c.652G> A (p.Glu218Lys) single nucleotide variant Uncertain significance rs202105909 GRCh38 Chromosome 6, 166929707: 166929707
12 RNASET2 NM_003730.4(RNASET2): c.534G> A (p.Val178=) single nucleotide variant Uncertain significance rs763011032 GRCh37 Chromosome 6, 167344565: 167344565
13 RNASET2 NM_003730.4(RNASET2): c.534G> A (p.Val178=) single nucleotide variant Uncertain significance rs763011032 GRCh38 Chromosome 6, 166931077: 166931077
14 RNASET2 NM_003730.4(RNASET2): c.360C> A (p.Thr120=) single nucleotide variant Uncertain significance rs750265990 GRCh37 Chromosome 6, 167352469: 167352469
15 RNASET2 NM_003730.4(RNASET2): c.360C> A (p.Thr120=) single nucleotide variant Uncertain significance rs750265990 GRCh38 Chromosome 6, 166938981: 166938981
16 RNASET2 NM_003730.4(RNASET2): c.21C> T (p.Arg7=) single nucleotide variant Likely benign rs12193095 GRCh37 Chromosome 6, 167369650: 167369650
17 RNASET2 NM_003730.4(RNASET2): c.21C> T (p.Arg7=) single nucleotide variant Likely benign rs12193095 GRCh38 Chromosome 6, 166956162: 166956162
18 RNASET2 NM_003730.4(RNASET2): c.-14C> A single nucleotide variant Uncertain significance rs886061242 GRCh37 Chromosome 6, 167369684: 167369684
19 RNASET2 NM_003730.4(RNASET2): c.-14C> A single nucleotide variant Uncertain significance rs886061242 GRCh38 Chromosome 6, 166956196: 166956196
20 RNASET2 NM_003730.4(RNASET2): c.-384G> A single nucleotide variant Uncertain significance rs886061249 GRCh37 Chromosome 6, 167370054: 167370054
21 RNASET2 NM_003730.4(RNASET2): c.-384G> A single nucleotide variant Uncertain significance rs886061249 GRCh38 Chromosome 6, 166956566: 166956566
22 RNASET2 NM_003730.4(RNASET2): c.706C> T (p.Arg236Trp) single nucleotide variant Benign/Likely benign rs11159 GRCh37 Chromosome 6, 167343141: 167343141
23 RNASET2 NM_003730.4(RNASET2): c.706C> T (p.Arg236Trp) single nucleotide variant Benign/Likely benign rs11159 GRCh38 Chromosome 6, 166929653: 166929653
24 RNASET2 NM_003730.4(RNASET2): c.648G> A (p.Pro216=) single nucleotide variant Likely benign rs35517174 GRCh37 Chromosome 6, 167343199: 167343199
25 RNASET2 NM_003730.4(RNASET2): c.648G> A (p.Pro216=) single nucleotide variant Likely benign rs35517174 GRCh38 Chromosome 6, 166929711: 166929711
26 RNASET2 NM_003730.4(RNASET2): c.643G> A (p.Glu215Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs41269593 GRCh37 Chromosome 6, 167343204: 167343204
27 RNASET2 NM_003730.4(RNASET2): c.643G> A (p.Glu215Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs41269593 GRCh38 Chromosome 6, 166929716: 166929716
28 RNASET2 NM_003730.4(RNASET2): c.516T> C (p.Leu172=) single nucleotide variant Benign rs13213697 GRCh37 Chromosome 6, 167344583: 167344583
29 RNASET2 NM_003730.4(RNASET2): c.516T> C (p.Leu172=) single nucleotide variant Benign rs13213697 GRCh38 Chromosome 6, 166931095: 166931095
30 RNASET2 NM_003730.4(RNASET2): c.224G> A (p.Cys75Tyr) single nucleotide variant Uncertain significance rs886061240 GRCh37 Chromosome 6, 167360207: 167360207
31 RNASET2 NM_003730.4(RNASET2): c.224G> A (p.Cys75Tyr) single nucleotide variant Uncertain significance rs886061240 GRCh38 Chromosome 6, 166946719: 166946719
32 RNASET2 NM_003730.4(RNASET2): c.147+3G> A single nucleotide variant Likely benign rs78446649 GRCh37 Chromosome 6, 167365973: 167365973
33 RNASET2 NM_003730.4(RNASET2): c.147+3G> A single nucleotide variant Likely benign rs78446649 GRCh38 Chromosome 6, 166952485: 166952485
34 RNASET2 NM_003730.4(RNASET2): c.-114G> C single nucleotide variant Uncertain significance rs886061246 GRCh37 Chromosome 6, 167369784: 167369784
35 RNASET2 NM_003730.4(RNASET2): c.-114G> C single nucleotide variant Uncertain significance rs886061246 GRCh38 Chromosome 6, 166956296: 166956296
36 RNASET2 NM_003730.4(RNASET2): c.-183delC deletion Uncertain significance rs886061248 GRCh37 Chromosome 6, 167369853: 167369853
37 RNASET2 NM_003730.4(RNASET2): c.-183delC deletion Uncertain significance rs886061248 GRCh38 Chromosome 6, 166956365: 166956365
38 RNASET2 NM_003730.4(RNASET2): c.-251G> C single nucleotide variant Uncertain significance rs373504059 GRCh38 Chromosome 6, 166956433: 166956433
39 RNASET2 NM_003730.4(RNASET2): c.-251G> C single nucleotide variant Uncertain significance rs373504059 GRCh37 Chromosome 6, 167369921: 167369921
40 RNASET2 NM_003730.4(RNASET2): c.-392G> C single nucleotide variant Uncertain significance rs536539036 GRCh37 Chromosome 6, 167370062: 167370062
41 RNASET2 NM_003730.4(RNASET2): c.-392G> C single nucleotide variant Uncertain significance rs536539036 GRCh38 Chromosome 6, 166956574: 166956574
42 RNASET2 NM_003730.4(RNASET2): c.-3_6delACCATGCGC deletion Uncertain significance rs886061241 GRCh37 Chromosome 6, 167369665: 167369673
43 RNASET2 NM_003730.4(RNASET2): c.-3_6delACCATGCGC deletion Uncertain significance rs886061241 GRCh38 Chromosome 6, 166956177: 166956185
44 RNASET2 NM_003730.4(RNASET2): c.-104G> T single nucleotide variant Uncertain significance rs886061245 GRCh37 Chromosome 6, 167369774: 167369774
45 RNASET2 NM_003730.4(RNASET2): c.-104G> T single nucleotide variant Uncertain significance rs886061245 GRCh38 Chromosome 6, 166956286: 166956286
46 RNASET2 NM_003730.4(RNASET2): c.-176C> T single nucleotide variant Uncertain significance rs886061247 GRCh37 Chromosome 6, 167369846: 167369846
47 RNASET2 NM_003730.4(RNASET2): c.-176C> T single nucleotide variant Uncertain significance rs886061247 GRCh38 Chromosome 6, 166956358: 166956358
48 RNASET2 NM_003730.4(RNASET2): c.-227G> T single nucleotide variant Benign rs1044059 GRCh37 Chromosome 6, 167369897: 167369897
49 RNASET2 NM_003730.4(RNASET2): c.-227G> T single nucleotide variant Benign rs1044059 GRCh38 Chromosome 6, 166956409: 166956409
50 RNASET2 NM_003730.4(RNASET2): c.-322T> C single nucleotide variant Benign rs2247325 GRCh37 Chromosome 6, 167369992: 167369992

Expression for Leukoencephalopathy, Cystic, Without Megalencephaly

Search GEO for disease gene expression data for Leukoencephalopathy, Cystic, Without Megalencephaly.

Pathways for Leukoencephalopathy, Cystic, Without Megalencephaly

GO Terms for Leukoencephalopathy, Cystic, Without Megalencephaly

Sources for Leukoencephalopathy, Cystic, Without Megalencephaly

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