MCID: FML258
MIFTS: 23

Familial Acute Necrotizing Encephalopathy

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Acute Necrotizing Encephalopathy

MalaCards integrated aliases for Familial Acute Necrotizing Encephalopathy:

Name: Familial Acute Necrotizing Encephalopathy 60
Recurrent Acute Necrotizing Encephalopathy 60
Adane 60

Characteristics:

Orphanet epidemiological data:

60
familial acute necrotizing encephalopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare neurological diseases


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). Affiliated tissues include thalamus, and related phenotypes are coma and increased csf protein

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 11.5
2 acute necrotizing encephalopathy type 1 11.1
3 dementia 10.4
4 acute necrotizing encephalopathy 10.2
5 encephalopathy 10.2
6 anxiety 10.1
7 status epilepticus 10.1
8 influenza 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

Human phenotypes related to Familial Acute Necrotizing Encephalopathy:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001259
2 increased csf protein 60 33 hallmark (90%) Very frequent (99-80%) HP:0002922
3 acute encephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0006846
4 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
5 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
6 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
7 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
8 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
9 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
10 vomiting 60 33 frequent (33%) Frequent (79-30%) HP:0002013
11 spastic tetraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0002510
12 generalized muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003324
13 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
14 abnormal pattern of respiration 60 33 frequent (33%) Frequent (79-30%) HP:0002793
15 gliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002171
16 cerebral edema 60 33 frequent (33%) Frequent (79-30%) HP:0002181
17 abnormality of thalamus morphology 60 33 frequent (33%) Frequent (79-30%) HP:0010663
18 abnormal brainstem mri signal intensity 60 33 frequent (33%) Frequent (79-30%) HP:0012747
19 choroid hemorrhage 60 33 frequent (33%) Frequent (79-30%) HP:0011887
20 abnormal visual fixation 60 33 frequent (33%) Frequent (79-30%) HP:0025404
21 abnormal putamen morphology 60 33 frequent (33%) Frequent (79-30%) HP:0031982
22 spasticity 60 Frequent (79-30%)
23 hypertonia 60 Frequent (79-30%)
24 abnormality of brainstem morphology 60 Frequent (79-30%)

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

MalaCards organs/tissues related to Familial Acute Necrotizing Encephalopathy:

42
Thalamus

Publications for Familial Acute Necrotizing Encephalopathy

Articles related to Familial Acute Necrotizing Encephalopathy:

(show all 11)
# Title Authors Year
1
Steroids for familial acute necrotizing encephalopathy: A future investment? ( 30241006 )
2018
2
Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia. ( 28336122 )
2017
3
RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy. ( 27591117 )
2016
4
Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome. ( 27882739 )
2016
5
H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene. ( 25170550 )
2015
6
Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene. ( 25128471 )
2014
7
Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful? ( 21945312 )
2012
8
Recurrent acute necrotizing encephalopathy in a Korean child: the first non-Caucasian case. ( 22566710 )
2012
9
Recurrent acute necrotizing encephalopathy in a canadian aboriginal child. ( 22030434 )
2011
10
Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family. ( 19811512 )
2010
11
[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 348)
# 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 GRCh38 Chromosome 2, 108740483: 108740483
10 RANBP2 NM_006267.4(RANBP2): c.783-6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs138540027 GRCh37 Chromosome 2, 109356939: 109356939
11 RANBP2 NM_006267.4(RANBP2): c.816G> C (p.Leu272Phe) single nucleotide variant Benign rs76352345 GRCh38 Chromosome 2, 108740522: 108740522
12 RANBP2 NM_006267.4(RANBP2): c.816G> C (p.Leu272Phe) single nucleotide variant Benign rs76352345 GRCh37 Chromosome 2, 109356978: 109356978
13 RANBP2 NM_006267.4(RANBP2): c.2330A> G (p.His777Arg) single nucleotide variant Benign rs61748146 GRCh38 Chromosome 2, 108755032: 108755032
14 RANBP2 NM_006267.4(RANBP2): c.2330A> G (p.His777Arg) single nucleotide variant Benign rs61748146 GRCh37 Chromosome 2, 109371488: 109371488
15 RANBP2 NM_006267.4(RANBP2): c.2550A> G (p.Ser850=) single nucleotide variant Benign rs826549 GRCh38 Chromosome 2, 108758496: 108758496
16 RANBP2 NM_006267.4(RANBP2): c.2550A> G (p.Ser850=) single nucleotide variant Benign rs826549 GRCh37 Chromosome 2, 109374952: 109374952
17 RANBP2 NM_006267.4(RANBP2): c.2982A> T (p.Ala994=) single nucleotide variant Benign rs61748148 GRCh38 Chromosome 2, 108763521: 108763521
18 RANBP2 NM_006267.4(RANBP2): c.2982A> T (p.Ala994=) single nucleotide variant Benign rs61748148 GRCh37 Chromosome 2, 109379977: 109379977
19 RANBP2 NM_006267.4(RANBP2): c.6612C> A (p.Ala2204=) single nucleotide variant Benign/Likely benign rs202005268 GRCh38 Chromosome 2, 108767151: 108767151
20 RANBP2 NM_006267.4(RANBP2): c.6612C> A (p.Ala2204=) single nucleotide variant Benign/Likely benign rs202005268 GRCh37 Chromosome 2, 109383607: 109383607
21 RANBP2 NM_006267.4(RANBP2): c.2173A> G (p.Ser725Gly) single nucleotide variant Benign/Likely benign rs17414315 GRCh38 Chromosome 2, 108753942: 108753942
22 RANBP2 NM_006267.4(RANBP2): c.2173A> G (p.Ser725Gly) single nucleotide variant Benign/Likely benign rs17414315 GRCh37 Chromosome 2, 109370398: 109370398
23 RANBP2 NM_006267.4(RANBP2): c.2559T> A (p.Asp853Glu) single nucleotide variant Benign rs148999619 GRCh38 Chromosome 2, 108758505: 108758505
24 RANBP2 NM_006267.4(RANBP2): c.2559T> A (p.Asp853Glu) single nucleotide variant Benign rs148999619 GRCh37 Chromosome 2, 109374961: 109374961
25 RANBP2 NM_006267.4(RANBP2): c.5941T> A (p.Ser1981Thr) single nucleotide variant Benign rs61748150 GRCh38 Chromosome 2, 108766480: 108766480
26 RANBP2 NM_006267.4(RANBP2): c.5941T> A (p.Ser1981Thr) single nucleotide variant Benign rs61748150 GRCh37 Chromosome 2, 109382936: 109382936
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 GRCh38 Chromosome 2, 108768038: 108768038
30 RANBP2 NM_006267.4(RANBP2): c.7499C> T (p.Thr2500Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140280672 GRCh37 Chromosome 2, 109384494: 109384494
31 RANBP2 NM_006267.4(RANBP2): c.560A> G (p.His187Arg) single nucleotide variant Uncertain significance rs2693122 GRCh37 Chromosome 2, 109352142: 109352142
32 RANBP2 NM_006267.4(RANBP2): c.560A> G (p.His187Arg) single nucleotide variant Uncertain significance rs2693122 GRCh38 Chromosome 2, 108735686: 108735686
33 RANBP2 NM_006267.4(RANBP2): c.2955G> A (p.Pro985=) single nucleotide variant Benign rs61748147 GRCh37 Chromosome 2, 109379950: 109379950
34 RANBP2 NM_006267.4(RANBP2): c.2955G> A (p.Pro985=) single nucleotide variant Benign rs61748147 GRCh38 Chromosome 2, 108763494: 108763494
35 RANBP2 NM_006267.4(RANBP2): c.3597G> A (p.Ala1199=) single nucleotide variant Benign rs17036806 GRCh37 Chromosome 2, 109380592: 109380592
36 RANBP2 NM_006267.4(RANBP2): c.3597G> A (p.Ala1199=) single nucleotide variant Benign rs17036806 GRCh38 Chromosome 2, 108764136: 108764136
37 RANBP2 NM_006267.4(RANBP2): c.7849+4A> G single nucleotide variant Benign rs2949961 GRCh37 Chromosome 2, 109384848: 109384848
38 RANBP2 NM_006267.4(RANBP2): c.7849+4A> G single nucleotide variant Benign rs2949961 GRCh38 Chromosome 2, 108768392: 108768392
39 RANBP2 NM_006267.4(RANBP2): c.9369+4G> A single nucleotide variant Likely benign rs139387463 GRCh37 Chromosome 2, 109399322: 109399322
40 RANBP2 NM_006267.4(RANBP2): c.9369+4G> A single nucleotide variant Likely benign rs139387463 GRCh38 Chromosome 2, 108782866: 108782866
41 RANBP2 NM_006267.4(RANBP2): c.1209C> T (p.Ser403=) single nucleotide variant Benign/Likely benign rs140275032 GRCh37 Chromosome 2, 109365521: 109365521
42 RANBP2 NM_006267.4(RANBP2): c.1209C> T (p.Ser403=) single nucleotide variant Benign/Likely benign rs140275032 GRCh38 Chromosome 2, 108749065: 108749065
43 RANBP2 NM_006267.4(RANBP2): c.2339C> T (p.Pro780Leu) single nucleotide variant Benign rs61758802 GRCh37 Chromosome 2, 109371497: 109371497
44 RANBP2 NM_006267.4(RANBP2): c.2339C> T (p.Pro780Leu) single nucleotide variant Benign rs61758802 GRCh38 Chromosome 2, 108755041: 108755041
45 RANBP2 NM_006267.4(RANBP2): c.2520T> C (p.Arg840=) single nucleotide variant Benign/Likely benign rs150539591 GRCh37 Chromosome 2, 109374922: 109374922
46 RANBP2 NM_006267.4(RANBP2): c.2520T> C (p.Arg840=) single nucleotide variant Benign/Likely benign rs150539591 GRCh38 Chromosome 2, 108758466: 108758466
47 RANBP2 NM_006267.4(RANBP2): c.2562A> G (p.Gly854=) single nucleotide variant Benign rs13426055 GRCh37 Chromosome 2, 109374964: 109374964
48 RANBP2 NM_006267.4(RANBP2): c.2562A> G (p.Gly854=) single nucleotide variant Benign rs13426055 GRCh38 Chromosome 2, 108758508: 108758508
49 RANBP2 NM_006267.4(RANBP2): c.3411A> C (p.Pro1137=) single nucleotide variant Benign rs76461420 GRCh37 Chromosome 2, 109380406: 109380406
50 RANBP2 NM_006267.4(RANBP2): c.3411A> C (p.Pro1137=) single nucleotide variant Benign rs76461420 GRCh38 Chromosome 2, 108763950: 108763950

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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