ABSN
MCID: SPR070
MIFTS: 19

Sporadic Infantile Bilateral Striatal Necrosis (ABSN)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sporadic Infantile Bilateral Striatal Necrosis

MalaCards integrated aliases for Sporadic Infantile Bilateral Striatal Necrosis:

Name: Sporadic Infantile Bilateral Striatal Necrosis 58
Sporadic Infantile Striatonigral Degeneration 58
Sporadic Infantile Striatonigral Necrosis 58
Acute Bilateral Striatal Necrosis 58
Sporadic Ibsn 58
Absn 58

Characteristics:

Orphanet epidemiological data:

58
sporadic infantile bilateral striatal necrosis
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Sporadic Infantile Bilateral Striatal Necrosis

MalaCards based summary : Sporadic Infantile Bilateral Striatal Necrosis, also known as sporadic infantile striatonigral degeneration, is related to striatonigral degeneration, infantile and encephalopathy. Related phenotypes are dysarthria and dysphagia

Related Diseases for Sporadic Infantile Bilateral Striatal Necrosis

Diseases in the Familial Bilateral Striatal Necrosis family:

Familial Infantile Bilateral Striatal Necrosis Sporadic Infantile Bilateral Striatal Necrosis

Diseases related to Sporadic Infantile Bilateral Striatal Necrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration, infantile 11.1
2 encephalopathy 10.2
3 gastroenteritis 10.1
4 acute necrotizing encephalitis 10.1

Symptoms & Phenotypes for Sporadic Infantile Bilateral Striatal Necrosis

Human phenotypes related to Sporadic Infantile Bilateral Striatal Necrosis:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
3 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
4 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
5 facial grimacing 58 31 frequent (33%) Frequent (79-30%) HP:0000273
6 infantile axial hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0009062
7 inappropriate crying 58 31 frequent (33%) Frequent (79-30%) HP:0030215
8 abnormal posturing 58 31 frequent (33%) Frequent (79-30%) HP:0002533
9 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
10 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
11 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
12 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
13 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
14 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
15 poor suck 58 31 occasional (7.5%) Occasional (29-5%) HP:0002033
16 hemiplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002301
17 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
18 loss of consciousness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007185
19 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
20 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
21 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
22 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
23 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
24 recurrent streptococcus pneumoniae infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0005366
25 bradykinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002067
26 hypomimic face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000338
27 resting tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002322
28 progressive extrapyramidal muscular rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007158
29 titubation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030187
30 pharyngitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0025439
31 nasogastric tube feeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0040288
32 focal-onset seizure 31 occasional (7.5%) HP:0007359
33 atypical absence status epilepticus 31 occasional (7.5%) HP:0011151
34 seizures 58 Frequent (79-30%)
35 gait disturbance 58 Occasional (29-5%)
36 reduced consciousness/confusion 58 Occasional (29-5%)
37 abnormality of movement 58 Frequent (79-30%)
38 infantile muscular hypotonia 58 Occasional (29-5%)
39 focal seizures, afebril 58 Occasional (29-5%)
40 obtundation status 58 Occasional (29-5%)

Drugs & Therapeutics for Sporadic Infantile Bilateral Striatal Necrosis

Search Clinical Trials , NIH Clinical Center for Sporadic Infantile Bilateral Striatal Necrosis

Genetic Tests for Sporadic Infantile Bilateral Striatal Necrosis

Anatomical Context for Sporadic Infantile Bilateral Striatal Necrosis

Publications for Sporadic Infantile Bilateral Striatal Necrosis

Articles related to Sporadic Infantile Bilateral Striatal Necrosis:

# Title Authors PMID Year
1
Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infection. 61
16198210 2005
2
Acute bilateral striatal necrosis with rotavirus gastroenteritis and inborn metabolic predisposition. 61
15934490 2005
3
Must acute necrotizing encephalopathy of childhood and acute bilateral striatal necrosis be differentiated? 61
15087115 2004
4
Acute bilateral striatal necrosis associated with Mycoplasma pneumoniae infection. 61
8970225 1996
5
[Acute basal ganglia necrosis with favorable course during Mycoplasma encepahlitis]. 61
8952776 1996
6
Acute bilateral striatal necrosis in an infant: CT and MRI. 61
8041453 1994

Variations for Sporadic Infantile Bilateral Striatal Necrosis

Expression for Sporadic Infantile Bilateral Striatal Necrosis

Search GEO for disease gene expression data for Sporadic Infantile Bilateral Striatal Necrosis.

Pathways for Sporadic Infantile Bilateral Striatal Necrosis

GO Terms for Sporadic Infantile Bilateral Striatal Necrosis

Sources for Sporadic Infantile Bilateral Striatal Necrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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