MCID: FML309
MIFTS: 23

Familial Infantile Bilateral Striatal Necrosis

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Familial Infantile Bilateral Striatal Necrosis

MalaCards integrated aliases for Familial Infantile Bilateral Striatal Necrosis:

Name: Familial Infantile Bilateral Striatal Necrosis 58
Familial Infantile Striatonigral Degeneration 58
Familial Infantile Striatonigral Necrosis 58
Familial Ibsn 58

Characteristics:

Orphanet epidemiological data:

58
familial infantile bilateral striatal necrosis
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Familial Infantile Bilateral Striatal Necrosis

MalaCards based summary : Familial Infantile Bilateral Striatal Necrosis, also known as familial infantile striatonigral degeneration, is related to striatonigral degeneration, infantile and pathologic nystagmus. An important gene associated with Familial Infantile Bilateral Striatal Necrosis is ADAR (Adenosine Deaminase RNA Specific), and among its related pathways/superpathways is Interferon gamma signaling. Affiliated tissues include caudate nucleus, and related phenotypes are hyperreflexia and failure to thrive

Related Diseases for Familial 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 Familial Infantile Bilateral Striatal Necrosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration, infantile 29.9 NUP62 MT-ATP6
2 pathologic nystagmus 10.1
3 cytokine deficiency 10.1
4 dysphagia 10.1
5 striatonigral degeneration 9.6 NUP62 MT-ATP6
6 hereditary spastic paraplegia 9.4 MT-ATP6 ADAR

Graphical network of the top 20 diseases related to Familial Infantile Bilateral Striatal Necrosis:



Diseases related to Familial Infantile Bilateral Striatal Necrosis

Symptoms & Phenotypes for Familial Infantile Bilateral Striatal Necrosis

Human phenotypes related to Familial Infantile Bilateral Striatal Necrosis:

58 31 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
2 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
3 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
4 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
5 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
6 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
7 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
8 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
9 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
10 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
11 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
12 spastic tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001285
13 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
14 tetraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002273
15 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
16 basal ganglia gliosis 58 31 frequent (33%) Frequent (79-30%) HP:0006999
17 atrophy/degeneration involving the caudate nucleus 58 31 frequent (33%) Frequent (79-30%) HP:0007374
18 horizontal pendular nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0007811
19 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
20 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
21 loss of ability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0006957
22 frequent falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002359
23 upper limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003484
24 cogwheel rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002396
25 small basal ganglia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012697
26 astrocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002446
27 lower limb muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007340
28 basal ganglia cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0006799
29 undetectable light- and dark-adapted electroretinogram 58 31 occasional (7.5%) Occasional (29-5%) HP:0007688
30 spasticity 58 Frequent (79-30%)
31 neurological speech impairment 58 Frequent (79-30%)
32 ataxia 58 Frequent (79-30%)
33 gait disturbance 58 Frequent (79-30%)
34 hypertonia 58 Occasional (29-5%)
35 neurodevelopmental delay 58 Frequent (79-30%)
36 rigidity 58 Occasional (29-5%)

Drugs & Therapeutics for Familial Infantile Bilateral Striatal Necrosis

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

Genetic Tests for Familial Infantile Bilateral Striatal Necrosis

Anatomical Context for Familial Infantile Bilateral Striatal Necrosis

MalaCards organs/tissues related to Familial Infantile Bilateral Striatal Necrosis:

40
Caudate Nucleus

Publications for Familial Infantile Bilateral Striatal Necrosis

Articles related to Familial Infantile Bilateral Striatal Necrosis:

# Title Authors PMID Year
1
Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis. 61
29510394 2017
2
Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. 61
12374138 2002

Variations for Familial Infantile Bilateral Striatal Necrosis

Expression for Familial Infantile Bilateral Striatal Necrosis

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

Pathways for Familial Infantile Bilateral Striatal Necrosis

Pathways related to Familial Infantile Bilateral Striatal Necrosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 NUP62 ADAR

GO Terms for Familial Infantile Bilateral Striatal Necrosis

Biological processes related to Familial Infantile Bilateral Striatal Necrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 8.96 NUP62 ADAR
2 protein import into nucleus GO:0006606 8.62 NUP62 ADAR

Sources for Familial 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....