MCID: PNN005
MIFTS: 35

Panencephalitis, Subacute Sclerosing malady

Categories: Rare diseases, Infectious diseases, Neuronal diseases, Immune diseases

Aliases & Classifications for Panencephalitis, Subacute Sclerosing

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Aliases & Descriptions for Panencephalitis, Subacute Sclerosing:

Name: Panencephalitis, Subacute Sclerosing 51
Subacute Sclerosing Panencephalitis 11 47 48 53 49 38 13 67
Dawson Disease 47 48
Sspe 47 53
Van Bogaert's Sclerosing Leukoencephalitis 11
Subacute Sclerosing Leukoencephalopathy 11
Immunosuppressive Measles Encephalitis 11
 
Subacute Sclerosing Leukoencephalitis 53
Subacute Inclusion Body Encephalitis 53
Van Bogaert Encephalitis 53
Dawson's Encephalitis 53
Van Bogaert Disease 53
Dawson Encephalitis 47

Characteristics:

Orphanet epidemiological data:

53
subacute sclerosing panencephalitis:
Inheritance: Not applicable; Prevalence: <1/1000000 (United States),1-9/100000 (India); Age of onset: All ages; Age of death: any age

HPO:

63
panencephalitis, subacute sclerosing:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 260470
Disease Ontology11 DOID:8970
ICD1029 A81.1
ICD9CM31 046.2
MeSH38 D013344
NCIt44 C85171
Orphanet53 ORPHA2806
ICD10 via Orphanet30 A81.1

Summaries for Panencephalitis, Subacute Sclerosing

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NINDS:48 Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder of children and young adults that affects the central nervous system (CNS). It is a slow, but persistent, viral infection caused by defective measles virus. SSPE has been reported from all parts of the world, but it is considered a rare disease in developed countries, with fewer than 10 cases per year reported in the United States. The incidence of SSPE declined by at least 90 percent in countries that have practiced widespread immunization with measles vaccine. The incidence of SSPE is still high in developing countries such as India and Eastern Europe. There is a higher incidence among males than females (male/female: 3/1). Most youngsters with SSPE have a history of measles infection at an early age, usually younger than 2 years, followed by a latent period of 6 to 8 years before neurological symptoms begin. Despite the long interval between the measles infection and the onset of SSPE, researchers think that the infection of the brain occurs soon after the primary bout with measles and progresses slowly. Why it persists and progresses still isn't clear. The initial symptoms of SSPE are subtle and include mild mental deterioration (such as memory loss) and changes in behavior (such as irritability) followed by disturbances in motor function, including uncontrollable involuntary jerking movements of the head, trunk or limbs called myoclonic jerks. Seizures may also occur. Some people may become blind. In advanced stages of the disease, individuals may lose the ability to walk, as their muscles stiffen or spasm. There is progressive deterioration to a comatose state, and then to a persistent vegetative state. Death is usually the result of fever, heart failure, or the brain's inability to continue controlling the autonomic nervous system.

MalaCards based summary: Panencephalitis, Subacute Sclerosing, also known as subacute sclerosing panencephalitis, is related to measles and penis basal cell carcinoma, and has symptoms including encephalitis An important gene associated with Panencephalitis, Subacute Sclerosing is CD46 (CD46 Molecule), and among its related pathways is NF-kappaB Signaling. Affiliated tissues include brain, brain and heart, and related mouse phenotypes are hematopoietic system and immune system.

Disease Ontology:11 A viral infectious disease that results in infection located in brain, has material basis in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself).

NIH Rare Diseases:47 Subacute sclerosing panencephalitis (SSPE) a rare condition that is caused by a measles infection acquired earlier in life. Signs and symptoms of the condition primarily affect the central nervous system and often develop approximately 7 to 10 years after a person recovers from the measles. Affected people may initially experience behavioral changes, dementia, and disturbances in motor function. In the late stages of the disease, affected people often progress to a comatose state, and then to a persistent vegetative state. Ultimately, many people with SSPE succumb to fever, heart failure, or the brain's inability to continue controlling the autonomic nervous system. It is unclear why some people develop SSPE after they have seemingly recovered from the measles while others do not. Researchers suspect that SSPE may be due to an abnormal immune response or a mutant form of the measles virus that causes a persistent infection within the central nervous system. Treatment is supportive and primarily based on the signs and symptoms present in each person. Recent studies have shown that certain medications (called antiviral and immunomodulatory drugs) may slow the progression of the condition, although the best treatment regimen and their long-term effects in people with SSPE are currently unknown. Last updated: 4/20/2016

Wikipedia:70 Subacute sclerosing panencephalitis (SSPE) also known as Dawson Disease, Dawson encephalitis, and... more...

Description from OMIM:51 260470

Related Diseases for Panencephalitis, Subacute Sclerosing

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Diseases related to Panencephalitis, Subacute Sclerosing via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1measles10.8
2penis basal cell carcinoma10.3CD40LG, MX1
3retinal perforation10.3CD40LG, MX1
4encephalitis10.3
5myoclonus10.3
6spinal polio10.3CD40LG, CD46
7malignant histiocytosis10.3CD40LG, MX1
8cerebritis10.3
9endobronchial lipoma10.3CD40LG, MOG
10chorioretinitis10.3
11tick-borne encephalitis10.2CD40LG, MX1
12neurofibroma of the esophagus10.2CD46, MYOM2
13retinitis10.2
14caplan's syndrome10.2CD40LG, MAPT
15acute disseminated encephalomyelitis10.2
16bone cancer10.1CD40LG, MYOM2
17rete ovarii cystadenoma10.1CD40LG, MYOM2
18calcinosis10.1CD40LG, MYOM2
19cortical blindness10.1
20optic neuritis10.1
21dementia10.1
22neuritis10.1
23neuronitis10.1
24rubella10.1
25ureter leiomyoma10.1CD40LG, MYOM2
26chlamydia10.1CD40LG, MX1
27infertility10.1CD40LG, MYOM2
28smoldering myeloma10.1CD40LG, MYOM2
29non-secretory myeloma10.1CD40LG, MYOM2
30japanese encephalitis10.1CD40LG, MYOM2
31generalized atherosclerosis10.1CD40LG, MYOM2
32aloi tomasini isaia syndrome10.1MBP, MOG
33epididymis adenomatoid tumor10.1CD40LG, MYOM2
34ovarian papillary cystadenoma10.0MBP, MOG
35foodborne botulism10.0CD40LG, MYOM2
36heart lymphoma10.0CD40LG, MYOM2
37schizophrenia10.0
38mumps10.0
39status epilepticus10.0
40epilepsy10.0
41central nervous system disease10.0
42dystonia10.0
43nervous system disease10.0
44toxoplasmosis10.0
45ataxia10.0
46encephalopathy10.0
47rubella panencephalitis10.0
48lacrimal system cancer10.0CD40LG, MYOM2
49breast carcinoma in situ10.0CD40LG, MOG
50renovascular hypertension10.0CD40LG, MYOM2

Graphical network of the top 20 diseases related to Panencephalitis, Subacute Sclerosing:



Diseases related to panencephalitis, subacute sclerosing

Symptoms for Panencephalitis, Subacute Sclerosing

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Symptoms by clinical synopsis from OMIM:

260470

Clinical features from OMIM:

260470

Human phenotypes related to Panencephalitis, Subacute Sclerosing:

 63
id Description HPO Frequency HPO Source Accession
1 encephalitis63 HP:0002383

Drugs & Therapeutics for Panencephalitis, Subacute Sclerosing

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Evaluating Dietary Intervention Before surgicaL Treatment for EpilepsyNot yet recruitingNCT02261753Phase 4
2Prevention of Serious Adverse Events in Acute Care Hospitals by Afferent Limb and Response Method Intervention - the ALARM Intervention Study.Active, not recruitingNCT01949025

Search NIH Clinical Center for Panencephalitis, Subacute Sclerosing


Cochrane evidence based reviews: subacute sclerosing panencephalitis

Genetic Tests for Panencephalitis, Subacute Sclerosing

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Anatomical Context for Panencephalitis, Subacute Sclerosing

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MalaCards organs/tissues related to Panencephalitis, Subacute Sclerosing:

35
Brain, Heart

FMA organs/tissues related to Panencephalitis, Subacute Sclerosing:

17
Brain

Animal Models for Panencephalitis, Subacute Sclerosing or affiliated genes

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MGI Mouse Phenotypes related to Panencephalitis, Subacute Sclerosing:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.2CD40LG, IRF1, MAPT, MBP, MOG, OCA2
2MP:00053878.1CD40LG, IRF1, MAPT, MBP, MOG, OCA2
3MP:00053918.0CD46, MAPT, MBP, MOG, OCA2

Publications for Panencephalitis, Subacute Sclerosing

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Variations for Panencephalitis, Subacute Sclerosing

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Expression for genes affiliated with Panencephalitis, Subacute Sclerosing

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Search GEO for disease gene expression data for Panencephalitis, Subacute Sclerosing.

Pathways for genes affiliated with Panencephalitis, Subacute Sclerosing

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Pathways related to Panencephalitis, Subacute Sclerosing according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2CD40LG, CD46, IRF1

GO Terms for genes affiliated with Panencephalitis, Subacute Sclerosing

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Biological processes related to Panencephalitis, Subacute Sclerosing according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1type I interferon signaling pathwayGO:006033710.1IRF1, MX1
2positive regulation of interleukin-10 productionGO:00327339.7CD40LG, CD46
3positive regulation of T cell proliferationGO:00421029.6CD40LG, CD46

Molecular functions related to Panencephalitis, Subacute Sclerosing according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1virus receptor activityGO:00016189.8CD46, MOG

Sources for Panencephalitis, Subacute Sclerosing

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet