ADANE
MCID: FML258
MIFTS: 19

Familial Acute Necrotizing Encephalopathy (ADANE)

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 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). 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:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, itm2b-related, 2 11.6
2 acute necrotizing encephalopathy type 1 11.2
3 dementia 10.3
4 acute necrotizing encephalopathy 10.3
5 cerebral amyloid angiopathy, cst3-related 10.3
6 encephalopathy 10.2
7 alzheimer disease 10.1
8 cerebral amyloid angiopathy, itm2b-related, 1 10.1
9 thrombophilia due to thrombin defect 10.1
10 down syndrome 10.1
11 neuroblastoma 1 10.1
12 anxiety 10.1
13 generalized anxiety disorder 10.1
14 status epilepticus 10.1
15 thrombophilia 10.1
16 amyloidosis 10.1
17 ocular motor apraxia 10.1
18 polyneuropathy 9.9
19 influenza 9.9
20 leigh syndrome 9.9
21 central nervous system disease 9.9
22 nervous system disease 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:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
2 increased csf protein 59 32 hallmark (90%) Very frequent (99-80%) HP:0002922
3 acute encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006846
4 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
7 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
8 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
9 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
10 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
11 spastic tetraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002510
12 generalized muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003324
13 abnormal pattern of respiration 59 32 frequent (33%) Frequent (79-30%) HP:0002793
14 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
15 cerebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0002181
16 abnormal brainstem mri signal intensity 59 32 frequent (33%) Frequent (79-30%) HP:0012747
17 gliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002171
18 abnormality of thalamus morphology 59 32 frequent (33%) Frequent (79-30%) HP:0010663
19 choroid hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0011887
20 abnormal visual fixation 59 32 frequent (33%) Frequent (79-30%) HP:0025404
21 abnormal putamen morphology 59 32 frequent (33%) Frequent (79-30%) HP:0031982
22 spasticity 59 Frequent (79-30%)
23 hypertonia 59 Frequent (79-30%)
24 abnormality of brainstem morphology 59 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:

41
Thalamus

Publications for Familial Acute Necrotizing Encephalopathy

Articles related to Familial Acute Necrotizing Encephalopathy:

(show all 14)
# Title Authors PMID Year
1
Susceptibility to Infection-Induced Acute Encephalopathy 3 38 71
25473726 2014
2
Dominant encephalopathy mimicking mitochondrial disease. 71
21205700 2011
3
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. 71
19118815 2009
4
Steroids for familial acute necrotizing encephalopathy: A future investment? 38
30241006 2018
5
Familial acute necrotizing encephalopathy with RANBP2 mutation: The first report in Northeast Asia. 38
28336122 2017
6
RANBP2 mutation in an Indian child with recurrent acute necrotizing encephalopathy. 38
27591117 2016
7
Familial acute necrotizing encephalopathy without RANBP2 mutation: Poor outcome. 38
27882739 2016
8
H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene. 38
25170550 2015
9
Familial acute necrotizing encephalopathy due to mutation in the RANBP2 gene. 38
25128471 2014
10
Recurrent acute necrotizing encephalopathy in a Korean child: the first non-Caucasian case. 38
22566710 2012
11
Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful? 38
21945312 2012
12
Recurrent acute necrotizing encephalopathy in a canadian aboriginal child. 38
22030434 2011
13
Recurrent acute necrotizing encephalopathy following influenza A in a genetically predisposed family. 38
19811512 2010
14
[Infection-triggered familial or recurrent acute necrotizing encephalopathy]. 38
19643689 2009

Variations for Familial Acute Necrotizing Encephalopathy

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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