ANE1
MCID: ACT229
MIFTS: 22

Acute Necrotizing Encephalopathy Type 1 (ANE1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Acute Necrotizing Encephalopathy Type 1

MalaCards integrated aliases for Acute Necrotizing Encephalopathy Type 1:

Name: Acute Necrotizing Encephalopathy Type 1 43
Postinfectious Acute Necrotizing Hemorrhagic Encephalopathy 43 71
Susceptibility to Infection-Induced Acute Encephalopathy 43
Susceptibility to Acute Necrotizing Encephalopathy 1 6
Autosomal Dominant Acute Necrotizing Encephalopathy 43
Susceptibility to Acute Necrotizing Encephalopathy 43
Encephalitis, Acute Necrotizing 71
Acute Necrotizing Encephalitis 43
Adane 43
Iiae3 43
Ane1 43

Classifications:



External Ids:

UMLS 71 C0338418 C3263959

Summaries for Acute Necrotizing Encephalopathy Type 1

MedlinePlus Genetics : 43 Acute necrotizing encephalopathy type 1, also known as susceptibility to infection-induced acute encephalopathy 3 or IIAE3, is a rare type of brain disease (encephalopathy) that occurs following a viral infection such as the flu.Acute necrotizing encephalopathy type 1 typically appears in infancy or early childhood, although some people do not develop the condition until adolescence or adulthood. People with this condition usually show typical symptoms of an infection, such as fever, cough, congestion, vomiting, and diarrhea, for a few days. Following these flu-like symptoms, affected individuals develop neurological problems, such as seizures, hallucinations, difficulty coordinating movements (ataxia), or abnormal muscle tone. Eventually, most affected individuals go into a coma, which usually lasts for a number of weeks. The condition is described as "acute" because the episodes of illness are time-limited.People with acute necrotizing encephalopathy type 1 develop areas of damage (lesions) in certain regions of the brain. As the condition progresses, these brain regions develop swelling (edema), bleeding (hemorrhage), and then tissue death (necrosis). The progressive brain damage and tissue loss results in encephalopathy.Approximately one-third of individuals with acute necrotizing encephalopathy type 1 do not survive their illness and subsequent neurological decline. Of those who do survive, about half have permanent brain damage due to tissue necrosis, resulting in impairments in walking, speech, and other basic functions. Over time, many of these skills may be regained, but the loss of brain tissue is permanent. Other individuals who survive their illness appear to recover completely.It is estimated that half of individuals with acute necrotizing encephalopathy type 1 are susceptible to recurrent episodes and will have another infection that results in neurological decline; some people may have numerous episodes throughout their lives. Neurological function worsens following each episode as more brain tissue is damaged.

MalaCards based summary : Acute Necrotizing Encephalopathy Type 1, also known as postinfectious acute necrotizing hemorrhagic encephalopathy, is related to acute necrotizing encephalitis and familial acute necrotizing encephalopathy. An important gene associated with Acute Necrotizing Encephalopathy Type 1 is RANBP2 (RAN Binding Protein 2). Affiliated tissues include brain.

Related Diseases for Acute Necrotizing Encephalopathy Type 1

Diseases in the Familial Acute Necrotizing Encephalopathy family:

Acute Necrotizing Encephalopathy Type 1

Diseases related to Acute Necrotizing Encephalopathy Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 acute necrotizing encephalitis 11.6
2 familial acute necrotizing encephalopathy 11.0
3 encephalitis 10.8
4 herpes simplex 10.3
5 influenza 10.2
6 pertussis 10.1
7 leigh syndrome 10.1
8 polycythemia vera 9.9
9 meningioma, familial 9.9
10 spinal meningioma 9.9
11 acute chest syndrome 9.9
12 encephalomalacia 9.9
13 central nervous system disease 9.9
14 secretory meningioma 9.9
15 lymphoplasmacyte-rich meningioma 9.9
16 polycythemia 9.9
17 nervous system disease 9.9
18 intracranial hypertension 9.9
19 sickle cell disease 9.9
20 herpes simplex encephalitis 9.9
21 encephalopathy 9.9
22 ocular motor apraxia 9.9
23 transverse myelitis 9.9
24 quadriplegia 9.9
25 myelitis 9.9
26 neuromyelitis optica 9.9
27 acute transverse myelitis 9.9

Graphical network of the top 20 diseases related to Acute Necrotizing Encephalopathy Type 1:



Diseases related to Acute Necrotizing Encephalopathy Type 1

Symptoms & Phenotypes for Acute Necrotizing Encephalopathy Type 1

Drugs & Therapeutics for Acute Necrotizing Encephalopathy Type 1

Search Clinical Trials , NIH Clinical Center for Acute Necrotizing Encephalopathy Type 1

Genetic Tests for Acute Necrotizing Encephalopathy Type 1

Anatomical Context for Acute Necrotizing Encephalopathy Type 1

MalaCards organs/tissues related to Acute Necrotizing Encephalopathy Type 1:

40
Brain

Publications for Acute Necrotizing Encephalopathy Type 1

Articles related to Acute Necrotizing Encephalopathy Type 1:

# Title Authors PMID Year
1
Dominant encephalopathy mimicking mitochondrial disease. 6
21205700 2011
2
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. 6
19118815 2009
3
Familial Acute Necrotizing Encephalopathy: Evidence From Next Generation Sequencing of Digenic Inheritance. 61
32102593 2020

Variations for Acute Necrotizing Encephalopathy Type 1

ClinVar genetic disease variations for Acute Necrotizing Encephalopathy Type 1:

6 (show top 50) (show all 341)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RANBP2 NM_006267.5(RANBP2):c.1958C>T (p.Thr653Ile) SNV Pathogenic, risk factor 8364 rs121434503 2:109369922-109369922 2:108753466-108753466
2 RANBP2 NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) SNV Pathogenic 8365 rs121434504 2:109369930-109369930 2:108753474-108753474
3 RANBP2 NM_006267.5(RANBP2):c.5249C>G (p.Pro1750Arg) SNV Likely pathogenic 393529 rs1060499624 2:109382244-109382244 2:108765788-108765788
4 RANBP2 NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) SNV Conflicting interpretations of pathogenicity 8363 rs121434502 2:109368449-109368449 2:108751993-108751993
5 RANBP2 NM_006267.5(RANBP2):c.1918-3del Deletion Uncertain significance 469431 rs1553489983 2:109369877-109369877 2:108753421-108753421
6 RANBP2 NM_006267.5(RANBP2):c.432A>G (p.Glu144=) SNV Uncertain significance 469459 rs915340430 2:109352014-109352014 2:108735558-108735558
7 RANBP2 NM_006267.5(RANBP2):c.7697G>A (p.Ser2566Asn) SNV Uncertain significance 537205 rs1196915435 2:109384692-109384692 2:108768236-108768236
8 RANBP2 NM_006267.5(RANBP2):c.2164A>T (p.Ile722Leu) SNV Uncertain significance 537209 rs746264200 2:109370389-109370389 2:108753933-108753933
9 RANBP2 NM_006267.5(RANBP2):c.4442G>A (p.Gly1481Glu) SNV Uncertain significance 537213 rs115106428 2:109381437-109381437 2:108764981-108764981
10 RANBP2 NM_006267.5(RANBP2):c.1398T>G (p.His466Gln) SNV Uncertain significance 537214 rs746894026 2:109367844-109367844 2:108751388-108751388
11 RANBP2 NM_006267.5(RANBP2):c.2147A>G (p.Asp716Gly) SNV Uncertain significance 537217 rs771554716 2:109370372-109370372 2:108753916-108753916
12 RANBP2 NM_006267.5(RANBP2):c.9603G>T (p.Lys3201Asn) SNV Uncertain significance 537220 rs778121827 2:109400285-109400285 2:108783829-108783829
13 RANBP2 NM_006267.5(RANBP2):c.3967G>T (p.Val1323Leu) SNV Uncertain significance 469458 rs543164039 2:109380962-109380962 2:108764506-108764506
14 RANBP2 NM_006267.5(RANBP2):c.4999G>A (p.Gly1667Arg) SNV Uncertain significance 469467 rs776380363 2:109381994-109381994 2:108765538-108765538
15 RANBP2 NM_006267.5(RANBP2):c.2997A>G (p.Ile999Met) SNV Uncertain significance 469444 rs201152981 2:109379992-109379992 2:108763536-108763536
16 RANBP2 NM_006267.5(RANBP2):c.746C>T (p.Thr249Ile) SNV Uncertain significance 469486 rs769368705 2:109352669-109352669 2:108736213-108736213
17 RANBP2 NM_006267.5(RANBP2):c.7066G>A (p.Asp2356Asn) SNV Uncertain significance 469481 rs377422691 2:109384061-109384061 2:108767605-108767605
18 RANBP2 NM_006267.5(RANBP2):c.3653A>G (p.Asn1218Ser) SNV Uncertain significance 469457 rs146109021 2:109380648-109380648 2:108764192-108764192
19 RANBP2 NM_006267.5(RANBP2):c.3582C>A (p.Phe1194Leu) SNV Uncertain significance 469455 rs201567166 2:109380577-109380577 2:108764121-108764121
20 RANBP2 NM_006267.5(RANBP2):c.5653A>G (p.Thr1885Ala) SNV Uncertain significance 469473 rs1553496835 2:109382648-109382648 2:108766192-108766192
21 RANBP2 NM_006267.5(RANBP2):c.2995A>G (p.Ile999Val) SNV Uncertain significance 639153 rs776885563 2:109379990-109379990 2:108763534-108763534
22 RANBP2 NM_006267.5(RANBP2):c.5210A>G (p.Asn1737Ser) SNV Uncertain significance 639815 rs941661906 2:109382205-109382205 2:108765749-108765749
23 RANBP2 NM_006267.5(RANBP2):c.7690G>T (p.Ala2564Ser) SNV Uncertain significance 641155 rs749950831 2:109384685-109384685 2:108768229-108768229
24 RANBP2 NM_006267.5(RANBP2):c.702C>G (p.Asp234Glu) SNV Uncertain significance 641524 rs148149640 2:109352625-109352625 2:108736169-108736169
25 RANBP2 NM_006267.5(RANBP2):c.771A>T (p.Glu257Asp) SNV Uncertain significance 641964 rs761240246 2:109352694-109352694 2:108736238-108736238
26 RANBP2 NM_006267.5(RANBP2):c.5996A>T (p.Asp1999Val) SNV Uncertain significance 642719 rs749247854 2:109382991-109382991 2:108766535-108766535
27 RANBP2 NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu) SNV Uncertain significance 645263 rs142454773 2:109380382-109380382 2:108763926-108763926
28 RANBP2 NM_006267.5(RANBP2):c.9220G>A (p.Gly3074Ser) SNV Uncertain significance 645967 rs753643539 2:109399169-109399169 2:108782713-108782713
29 RANBP2 NM_006267.5(RANBP2):c.9292G>T (p.Ala3098Ser) SNV Uncertain significance 646055 rs1573859262 2:109399241-109399241 2:108782785-108782785
30 RANBP2 NM_006267.5(RANBP2):c.5323T>C (p.Phe1775Leu) SNV Uncertain significance 647753 rs1573814995 2:109382318-109382318 2:108765862-108765862
31 RANBP2 NM_006267.5(RANBP2):c.6988C>A (p.Gln2330Lys) SNV Uncertain significance 647930 rs2693105 2:109383983-109383983 2:108767527-108767527
32 RANBP2 NM_006267.5(RANBP2):c.1043G>T (p.Cys348Phe) SNV Uncertain significance 649260 rs1252035467 2:109363234-109363234 2:108746778-108746778
33 RANBP2 NM_006267.5(RANBP2):c.7513C>A (p.Pro2505Thr) SNV Uncertain significance 649862 rs147542198 2:109384508-109384508 2:108768052-108768052
34 RANBP2 NM_006267.5(RANBP2):c.5356G>T (p.Asp1786Tyr) SNV Uncertain significance 649908 rs753417427 2:109382351-109382351 2:108765895-108765895
35 RANBP2 NM_006267.5(RANBP2):c.73A>G (p.Lys25Glu) SNV Uncertain significance 650442 rs576251747 2:109345588-109345588 2:108729132-108729132
36 RANBP2 NM_006267.5(RANBP2):c.4508A>T (p.Gln1503Leu) SNV Uncertain significance 653367 rs969517784 2:109381503-109381503 2:108765047-108765047
37 RANBP2 NM_006267.5(RANBP2):c.2314G>C (p.Asp772His) SNV Uncertain significance 655944 rs776333740 2:109371472-109371472 2:108755016-108755016
38 RANBP2 NM_006267.5(RANBP2):c.6881A>T (p.Asp2294Val) SNV Uncertain significance 656601 rs779134801 2:109383876-109383876 2:108767420-108767420
39 RANBP2 NM_006267.5(RANBP2):c.1601C>T (p.Ala534Val) SNV Uncertain significance 657039 rs763321558 2:109368129-109368129 2:108751673-108751673
40 RANBP2 NM_006267.5(RANBP2):c.467C>G (p.Ser156Ter) SNV Uncertain significance 657316 rs1573715350 2:109352049-109352049 2:108735593-108735593
41 RANBP2 NM_006267.5(RANBP2):c.1283G>A (p.Arg428Gln) SNV Uncertain significance 657959 rs1359594543 2:109367729-109367729 2:108751273-108751273
42 RANBP2 NM_006267.5(RANBP2):c.520G>T (p.Val174Leu) SNV Uncertain significance 658560 rs1045111673 2:109352102-109352102 2:108735646-108735646
43 RANBP2 NM_006267.5(RANBP2):c.297G>T (p.Lys99Asn) SNV Uncertain significance 659233 rs778799923 2:109347822-109347822 2:108731366-108731366
44 RANBP2 NM_006267.5(RANBP2):c.3469G>C (p.Asp1157His) SNV Uncertain significance 659983 rs1383623493 2:109380464-109380464 2:108764008-108764008
45 RANBP2 NM_006267.5(RANBP2):c.4976A>G (p.Glu1659Gly) SNV Uncertain significance 660074 rs372348140 2:109381971-109381971 2:108765515-108765515
46 RANBP2 NM_006267.5(RANBP2):c.4514C>T (p.Pro1505Leu) SNV Uncertain significance 660110 rs773526624 2:109381509-109381509 2:108765053-108765053
47 RANBP2 NM_006267.5(RANBP2):c.4216G>A (p.Asp1406Asn) SNV Uncertain significance 660246 rs777082127 2:109381211-109381211 2:108764755-108764755
48 RANBP2 NM_006267.5(RANBP2):c.6116G>A (p.Arg2039Gln) SNV Uncertain significance 664191 rs545733728 2:109383111-109383111 2:108766655-108766655
49 RANBP2 NM_006267.5(RANBP2):c.3380G>A (p.Arg1127Gln) SNV Uncertain significance 664635 rs531942994 2:109380375-109380375 2:108763919-108763919
50 RANBP2 NM_006267.5(RANBP2):c.5189G>A (p.Cys1730Tyr) SNV Uncertain significance 665179 rs199711632 2:109382184-109382184 2:108765728-108765728

Expression for Acute Necrotizing Encephalopathy Type 1

Search GEO for disease gene expression data for Acute Necrotizing Encephalopathy Type 1.

Pathways for Acute Necrotizing Encephalopathy Type 1

GO Terms for Acute Necrotizing Encephalopathy Type 1

Sources for Acute Necrotizing Encephalopathy Type 1

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44 MeSH
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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