MCID: FML258
MIFTS: 12

Familial Acute Necrotizing Encephalopathy

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Familial Acute Necrotizing Encephalopathy

MalaCards integrated aliases for Familial Acute Necrotizing Encephalopathy:

Name: Familial Acute Necrotizing Encephalopathy 59
Recurrent Acute Necrotizing Encephalopathy 59
Adane 59

Characteristics:

Orphanet epidemiological data:

59
familial acute necrotizing encephalopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA88619

Summaries for Familial Acute Necrotizing Encephalopathy

MalaCards based summary : Familial Acute Necrotizing Encephalopathy, also known as recurrent acute necrotizing encephalopathy, is related to cerebral amyloid angiopathy, itm2b-related, 2 and acute necrotizing encephalopathy type 1. An important gene associated with Familial Acute Necrotizing Encephalopathy is RANBP2 (RAN Binding Protein 2).

Related Diseases for Familial Acute Necrotizing Encephalopathy

Diseases in the Acute Necrotizing Encephalopathy family:

Acute Necrotizing Encephalopathy Type 1 Familial Acute Necrotizing Encephalopathy

Diseases related to Familial Acute Necrotizing Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, itm2b-related, 2 11.3
2 acute necrotizing encephalopathy type 1 10.9
3 dementia 10.3
4 acute necrotizing encephalopathy 10.0
5 encephalopathy 9.9

Graphical network of the top 20 diseases related to Familial Acute Necrotizing Encephalopathy:



Diseases related to Familial Acute Necrotizing Encephalopathy

Symptoms & Phenotypes for Familial Acute Necrotizing Encephalopathy

Drugs & Therapeutics for Familial Acute Necrotizing Encephalopathy

Search Clinical Trials , NIH Clinical Center for Familial Acute Necrotizing Encephalopathy

Genetic Tests for Familial Acute Necrotizing Encephalopathy

Anatomical Context for Familial Acute Necrotizing Encephalopathy

Publications for Familial Acute Necrotizing Encephalopathy

Articles related to Familial Acute Necrotizing Encephalopathy:

# Title Authors Year
1
Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia. ( 28336122 )
2017
2
Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome. ( 27882739 )
2016
3
RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy. ( 27591117 )
2016
4
Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family. ( 19811512 )
2010
5
[Infection-triggered familial or recurrent acute necrotizing encephalopathy]. ( 19643689 )
2009

Variations for Familial Acute Necrotizing Encephalopathy

ClinVar genetic disease variations for Familial Acute Necrotizing Encephalopathy:

6
(show top 50) (show all 294)
# Gene Variation Type Significance SNP ID Assembly Location
1 RANBP2 NM_006267.4(RANBP2): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs121434502 GRCh37 Chromosome 2, 109368449: 109368449
2 RANBP2 NM_006267.4(RANBP2): c.1754C> T (p.Thr585Met) single nucleotide variant Pathogenic rs121434502 GRCh38 Chromosome 2, 108751993: 108751993
3 RANBP2 NM_006267.4(RANBP2): c.1958C> T (p.Thr653Ile) single nucleotide variant Pathogenic,risk factor rs121434503 GRCh37 Chromosome 2, 109369922: 109369922
4 RANBP2 NM_006267.4(RANBP2): c.1958C> T (p.Thr653Ile) single nucleotide variant Pathogenic,risk factor rs121434503 GRCh38 Chromosome 2, 108753466: 108753466
5 RANBP2 NM_006267.4(RANBP2): c.1966A> G (p.Ile656Val) single nucleotide variant Pathogenic,risk factor rs121434504 GRCh37 Chromosome 2, 109369930: 109369930
6 RANBP2 NM_006267.4(RANBP2): c.1966A> G (p.Ile656Val) single nucleotide variant Pathogenic,risk factor rs121434504 GRCh38 Chromosome 2, 108753474: 108753474
7 RANBP2 NM_006267.4(RANBP2): c.8407A> G (p.Ile2803Val) single nucleotide variant Benign rs61758804 GRCh37 Chromosome 2, 109392302: 109392302
8 RANBP2 NM_006267.4(RANBP2): c.8407A> G (p.Ile2803Val) single nucleotide variant Benign rs61758804 GRCh38 Chromosome 2, 108775846: 108775846
9 RANBP2 NM_006267.4(RANBP2): c.783-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs138540027 GRCh37 Chromosome 2, 109356939: 109356939
10 RANBP2 NM_006267.4(RANBP2): c.783-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs138540027 GRCh38 Chromosome 2, 108740483: 108740483
11 RANBP2 NM_006267.4(RANBP2): c.816G> C (p.Leu272Phe) single nucleotide variant Benign rs76352345 GRCh37 Chromosome 2, 109356978: 109356978
12 RANBP2 NM_006267.4(RANBP2): c.816G> C (p.Leu272Phe) single nucleotide variant Benign rs76352345 GRCh38 Chromosome 2, 108740522: 108740522
13 RANBP2 NM_006267.4(RANBP2): c.2330A> G (p.His777Arg) single nucleotide variant Benign rs61748146 GRCh37 Chromosome 2, 109371488: 109371488
14 RANBP2 NM_006267.4(RANBP2): c.2330A> G (p.His777Arg) single nucleotide variant Benign rs61748146 GRCh38 Chromosome 2, 108755032: 108755032
15 RANBP2 NM_006267.4(RANBP2): c.2550A> G (p.Ser850=) single nucleotide variant Benign rs826549 GRCh37 Chromosome 2, 109374952: 109374952
16 RANBP2 NM_006267.4(RANBP2): c.2550A> G (p.Ser850=) single nucleotide variant Benign rs826549 GRCh38 Chromosome 2, 108758496: 108758496
17 RANBP2 NM_006267.4(RANBP2): c.2982A> T (p.Ala994=) single nucleotide variant Benign rs61748148 GRCh37 Chromosome 2, 109379977: 109379977
18 RANBP2 NM_006267.4(RANBP2): c.2982A> T (p.Ala994=) single nucleotide variant Benign rs61748148 GRCh38 Chromosome 2, 108763521: 108763521
19 RANBP2 NM_006267.4(RANBP2): c.6612C> A (p.Ala2204=) single nucleotide variant Benign/Likely benign rs202005268 GRCh37 Chromosome 2, 109383607: 109383607
20 RANBP2 NM_006267.4(RANBP2): c.6612C> A (p.Ala2204=) single nucleotide variant Benign/Likely benign rs202005268 GRCh38 Chromosome 2, 108767151: 108767151
21 RANBP2 NM_006267.4(RANBP2): c.2173A> G (p.Ser725Gly) single nucleotide variant Benign/Likely benign rs17414315 GRCh37 Chromosome 2, 109370398: 109370398
22 RANBP2 NM_006267.4(RANBP2): c.2173A> G (p.Ser725Gly) single nucleotide variant Benign/Likely benign rs17414315 GRCh38 Chromosome 2, 108753942: 108753942
23 RANBP2 NM_006267.4(RANBP2): c.2559T> A (p.Asp853Glu) single nucleotide variant Benign rs148999619 GRCh37 Chromosome 2, 109374961: 109374961
24 RANBP2 NM_006267.4(RANBP2): c.2559T> A (p.Asp853Glu) single nucleotide variant Benign rs148999619 GRCh38 Chromosome 2, 108758505: 108758505
25 RANBP2 NM_006267.4(RANBP2): c.5941T> A (p.Ser1981Thr) single nucleotide variant Benign rs61748150 GRCh37 Chromosome 2, 109382936: 109382936
26 RANBP2 NM_006267.4(RANBP2): c.5941T> A (p.Ser1981Thr) single nucleotide variant Benign rs61748150 GRCh38 Chromosome 2, 108766480: 108766480
27 RANBP2 NM_006267.4(RANBP2): c.6609G> A (p.Ala2203=) single nucleotide variant Benign rs60199637 GRCh38 Chromosome 2, 108767148: 108767148
28 RANBP2 NM_006267.4(RANBP2): c.6609G> A (p.Ala2203=) single nucleotide variant Benign rs60199637 GRCh37 Chromosome 2, 109383604: 109383604
29 RANBP2 NM_006267.4(RANBP2): c.7499C> T (p.Thr2500Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140280672 GRCh37 Chromosome 2, 109384494: 109384494
30 RANBP2 NM_006267.4(RANBP2): c.7499C> T (p.Thr2500Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140280672 GRCh38 Chromosome 2, 108768038: 108768038
31 RANBP2 NM_006267.4(RANBP2): c.2955G> A (p.Pro985=) single nucleotide variant Benign rs61748147 GRCh37 Chromosome 2, 109379950: 109379950
32 RANBP2 NM_006267.4(RANBP2): c.2955G> A (p.Pro985=) single nucleotide variant Benign rs61748147 GRCh38 Chromosome 2, 108763494: 108763494
33 RANBP2 NM_006267.4(RANBP2): c.3597G> A (p.Ala1199=) single nucleotide variant Benign rs17036806 GRCh37 Chromosome 2, 109380592: 109380592
34 RANBP2 NM_006267.4(RANBP2): c.3597G> A (p.Ala1199=) single nucleotide variant Benign rs17036806 GRCh38 Chromosome 2, 108764136: 108764136
35 RANBP2 NM_006267.4(RANBP2): c.7849+4A> G single nucleotide variant Benign rs2949961 GRCh37 Chromosome 2, 109384848: 109384848
36 RANBP2 NM_006267.4(RANBP2): c.7849+4A> G single nucleotide variant Benign rs2949961 GRCh38 Chromosome 2, 108768392: 108768392
37 RANBP2 NM_006267.4(RANBP2): c.9369+4G> A single nucleotide variant Likely benign rs139387463 GRCh37 Chromosome 2, 109399322: 109399322
38 RANBP2 NM_006267.4(RANBP2): c.9369+4G> A single nucleotide variant Likely benign rs139387463 GRCh38 Chromosome 2, 108782866: 108782866
39 RANBP2 NM_006267.4(RANBP2): c.1209C> T (p.Ser403=) single nucleotide variant Benign/Likely benign rs140275032 GRCh37 Chromosome 2, 109365521: 109365521
40 RANBP2 NM_006267.4(RANBP2): c.1209C> T (p.Ser403=) single nucleotide variant Benign/Likely benign rs140275032 GRCh38 Chromosome 2, 108749065: 108749065
41 RANBP2 NM_006267.4(RANBP2): c.2339C> T (p.Pro780Leu) single nucleotide variant Benign rs61758802 GRCh37 Chromosome 2, 109371497: 109371497
42 RANBP2 NM_006267.4(RANBP2): c.2339C> T (p.Pro780Leu) single nucleotide variant Benign rs61758802 GRCh38 Chromosome 2, 108755041: 108755041
43 RANBP2 NM_006267.4(RANBP2): c.2520T> C (p.Arg840=) single nucleotide variant Benign/Likely benign rs150539591 GRCh37 Chromosome 2, 109374922: 109374922
44 RANBP2 NM_006267.4(RANBP2): c.2520T> C (p.Arg840=) single nucleotide variant Benign/Likely benign rs150539591 GRCh38 Chromosome 2, 108758466: 108758466
45 RANBP2 NM_006267.4(RANBP2): c.2562A> G (p.Gly854=) single nucleotide variant Benign rs13426055 GRCh37 Chromosome 2, 109374964: 109374964
46 RANBP2 NM_006267.4(RANBP2): c.2562A> G (p.Gly854=) single nucleotide variant Benign rs13426055 GRCh38 Chromosome 2, 108758508: 108758508
47 RANBP2 NM_006267.4(RANBP2): c.3411A> C (p.Pro1137=) single nucleotide variant Benign rs76461420 GRCh37 Chromosome 2, 109380406: 109380406
48 RANBP2 NM_006267.4(RANBP2): c.3411A> C (p.Pro1137=) single nucleotide variant Benign rs76461420 GRCh38 Chromosome 2, 108763950: 108763950
49 RANBP2 NM_006267.4(RANBP2): c.3934G> A (p.Val1312Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs372722891 GRCh37 Chromosome 2, 109380929: 109380929
50 RANBP2 NM_006267.4(RANBP2): c.3934G> A (p.Val1312Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs372722891 GRCh38 Chromosome 2, 108764473: 108764473

Expression for Familial Acute Necrotizing Encephalopathy

Search GEO for disease gene expression data for Familial Acute Necrotizing Encephalopathy.

Pathways for Familial Acute Necrotizing Encephalopathy

GO Terms for Familial Acute Necrotizing Encephalopathy

Sources for Familial Acute Necrotizing Encephalopathy

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