SNDI
MCID: STR085
MIFTS: 33

Striatonigral Degeneration, Infantile (SNDI)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Striatonigral Degeneration, Infantile

MalaCards integrated aliases for Striatonigral Degeneration, Infantile:

Name: Striatonigral Degeneration, Infantile 57 13 70
Infantile Bilateral Striatal Necrosis 57 20 58 72 36
Striatonigral Degeneration Infantile 20 29 6 39
Ibsn 57 20 58 72
Sndi 57 20 72
Infantile Striatonigral Degeneration 58 72
Infantile Bilateral Striatal Necrosis; Ibsn 57
Bilateral Striatal Necrosis, Infantile 57
Infantile Striatonigral Necrosis 58
Striatal Degeneration, Familial 57
Striatal Degeneration Familial 20
Familial Striatal Degeneration 72

Characteristics:

Orphanet epidemiological data:

58
infantile bilateral striatal necrosis
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset 7 to 15 months of age
genetic heterogeneity, see mitochondrial inheritance of the disorder


HPO:

31
striatonigral degeneration, infantile:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 271930
OMIM Phenotypic Series 57 PS271930
KEGG 36 H01177
ICD10 via Orphanet 33 G23.2
UMLS via Orphanet 71 C0795996
Orphanet 58 ORPHA1576
MedGen 41 C0795996
UMLS 70 C0795996

Summaries for Striatonigral Degeneration, Infantile

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1576 Definition Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms). Epidemiology The prevalence of the sporadic form has been estimated at 1-9/1,000,000 and prevalence of the familial form has been estimated at less than 1/1,000,000. Clinical description The age of onset of familial IBSN varies between 7 months and 15 months, whereas sporadic IBSN can occur any time from the neonatal period through childhood and even in adolescence. Clinical features include choreoathetosis, dystonia, rigidity, spasticity, dysphagia, optic atrophy, intellectual deficit, developmental regression of motor and verbal skills, failure to thrive, myoclonus, quadriparesis, cerebellar ataxia and nystagmus. The familial form has an insidious onset and a slowly progressive downhill course, while the sporadic form is associated with abrupt neurologic dysfunction following an acute systemic febrile illness such as a mycoplasma, measles or streptococcus infection. Etiology Autosomal recessive IBSN is caused by mutation in the NUP62 gene (19q13.33) and mitochondrial IBSN is caused by mutation in the ATP synthase-6 gene ( MTATP6 ). Diagnostic methods Diagnosis is based on clinical observation of choreoathetoid movements of the face, trunk and extremities and evidence of basal ganglia degeneration on CT and MRI images. Differential diagnosis Differential diagnoses include Wilson's disease, acute disseminated encephalomyelitis, neurodegeneration with brain iron accumulation, Leigh disease, juvenile Huntington chorea, methylmalonic aciduria, guanidinoacetate methyltransferase deficiency, glutaric acidemia I (see these terms), carbon monoxide intoxication, small vessel arteritis and trauma. Antenatal diagnosis Antenatal diagnosis and genetic counseling is offered to families of affected patients. Genetic counseling Familial IBSN can be inherited as an autosomal recessive or mitochondrial disorder. Management and treatment There is no standard therapy for familial IBSN. Treatment with oral biotin has been observed to slow disease progress initially. Treatment for the sporadic form is based on treatment of the causal infection. Prognosis Prognosis for the familial form is usually poor with patients progressing to spastic quadriparesis followed by death, usually due to infection. For the sporadic form, prognosis is variable, with either gradual improvement in symptoms and complete recovery, observed after recovery from the infection, or severe neurological sequelae.

MalaCards based summary : Striatonigral Degeneration, Infantile, also known as infantile bilateral striatal necrosis, is related to familial infantile bilateral striatal necrosis and striatonigral degeneration, infantile, mitochondrial, and has symptoms including muscle spasticity An important gene associated with Striatonigral Degeneration, Infantile is NUP62 (Nucleoporin 62), and among its related pathways/superpathways are RNA transport and Oxidative phosphorylation. Affiliated tissues include globus pallidus and caudate nucleus, and related phenotypes are intellectual disability and spasticity

OMIM® : 57 Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see 500003) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (256000) and certain metabolic disorders, including glutaric acidemia I (231670) and methylmalonic aciduria (251000). See also Aicardi-Goutieres syndrome (225750) (Mito et al., 1986; De Meirleir et al., 1995). (271930) (Updated 05-Apr-2021)

KEGG : 36 Infantile bilateral striatal necrosis (IBSN) is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features of IBSN include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. The mechanism of IBSN has not been elucidated, although it has been reported that IBSN usually occurs as a result of metabolic, familial, or toxic diseases. Mutations in the adenosine triphosphatase 6 gene (complex V) have been described in families with mitochondrial inheritance, while there is much evidence that supports the role of the mutation in NUP62 as the cause of autosomal recessive IBSN. Human herpes virus-6 (HHV-6) infection has been reported to associated with this disease.

UniProtKB/Swiss-Prot : 72 Infantile striatonigral degeneration: Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation.

Related Diseases for Striatonigral Degeneration, Infantile

Diseases in the Striatonigral Degeneration family:

Striatonigral Degeneration, Infantile

Diseases related to Striatonigral Degeneration, Infantile via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 familial infantile bilateral striatal necrosis 31.5 NUP62 MT-ATP6
2 striatonigral degeneration, infantile, mitochondrial 11.5
3 sporadic infantile bilateral striatal necrosis 11.4
4 mutism 10.2
5 pathologic nystagmus 10.2
6 dysphagia 10.2
7 3-methylglutaconic aciduria, type iii 10.1
8 ataxia and polyneuropathy, adult-onset 10.1
9 exanthema subitum 10.1
10 measles 10.1
11 mitochondrial dna-associated leigh syndrome and narp 10.1
12 cytokine deficiency 10.1
13 hypertonia 10.1
14 hypotonia 10.1
15 neurometabolic disease 10.1
16 breast cancer 10.0
17 striatal degeneration, autosomal dominant 1 10.0
18 chorea, childhood-onset, with psychomotor retardation 10.0
19 choreatic disease 10.0
20 myoclonus 10.0
21 tremor 10.0
22 striatonigral degeneration 9.2 NUP62 MT-ATP6 IL4I1

Graphical network of the top 20 diseases related to Striatonigral Degeneration, Infantile:



Diseases related to Striatonigral Degeneration, Infantile

Symptoms & Phenotypes for Striatonigral Degeneration, Infantile

Human phenotypes related to Striatonigral Degeneration, Infantile:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 spasticity 31 HP:0001257
3 failure to thrive 31 HP:0001508
4 dysphagia 31 HP:0002015
5 developmental regression 31 HP:0002376
6 optic atrophy 31 HP:0000648
7 developmental stagnation 31 HP:0007281
8 dystonia 31 HP:0001332
9 choreoathetosis 31 HP:0001266
10 pendular nystagmus 31 HP:0012043

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
dysphagia
developmental regression
dystonia
mental retardation
more
Abdomen Gastrointestinal:
dysphagia

Growth Other:
failure to thrive

Head And Neck Eyes:
optic atrophy
nystagmus, pendular

Clinical features from OMIM®:

271930 (Updated 05-Apr-2021)

UMLS symptoms related to Striatonigral Degeneration, Infantile:


muscle spasticity

GenomeRNAi Phenotypes related to Striatonigral Degeneration, Infantile according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Small cells GR00165-A 8.32 IL4I1

Drugs & Therapeutics for Striatonigral Degeneration, Infantile

Search Clinical Trials , NIH Clinical Center for Striatonigral Degeneration, Infantile

Genetic Tests for Striatonigral Degeneration, Infantile

Genetic tests related to Striatonigral Degeneration, Infantile:

# Genetic test Affiliating Genes
1 Striatonigral Degeneration Infantile 29 NUP62

Anatomical Context for Striatonigral Degeneration, Infantile

MalaCards organs/tissues related to Striatonigral Degeneration, Infantile:

40
Globus Pallidus, Caudate Nucleus

Publications for Striatonigral Degeneration, Infantile

Articles related to Striatonigral Degeneration, Infantile:

(show all 26)
# Title Authors PMID Year
1
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 57 6 61
16786527 2006
2
Infantile bilateral striatal necrosis maps to chromosome 19q. 57 61
14718703 2004
3
Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. 57 61
12374138 2002
4
Infantile bilateral striatal necrosis. Clinicopathological classification. 61 57
3729745 1986
5
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. 57
8554662 1995
6
Familial striatal degeneration. 57
4743881 1973
7
Familial holotopistic striatal necrosis. 57
5805975 1969
8
NUP62 is required for the maintenance of the spindle assembly checkpoint and chromosomal stability. 61
32905854 2020
9
Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis. 61
29510394 2017
10
Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders. 61
25907776 2015
11
Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. 61
23334465 2013
12
Acute infantile bilateral striatal necrosis: single-photon emission computed tomography (SPECT) imaging and review. 61
17940250 2007
13
Infantile bilateral striatal necrosis associated with human herpes virus-6 (HHV-6) infection. 61
16198210 2005
14
Post-streptococcal autoimmune dystonia with isolated bilateral striatal necrosis. 61
12162386 2002
15
Infantile bilateral striatal necrosis following measles. 61
10838107 2000
16
[Infantile bilateral striatal necrosis]. 61
11057291 2000
17
[Acute infantile bilateral striatal necrosis]. 61
9235852 1997
18
Serial MRI in infantile bilateral striatal necrosis. 61
8024666 1994
19
Infantile bilateral striatal necrosis: chronic and acute manifestations in a single case. 61
8059931 1994
20
Infantile acute encephalopathy with combined symmetrical hypodensities in the thalami and the putamen on computed tomography. 61
1355279 1992
21
[Infantile bilateral necrosis of the striatum of corpus: report of four cases]. 61
1514418 1992
22
Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. 61
1548491 1992
23
Infantile bilateral striatal necrosis. 61
1919907 1991
24
Acute neurologic dysfunction associated with destructive lesions of the basal ganglia: a benign form of infantile bilateral striatal necrosis. 61
2213381 1990
25
Defect in succinate oxidation by isolated muscle mitochondria in a patient with symmetrical lesions in the basal ganglia. 61
3379446 1988
26
Infantile bilateral striatal necrosis. Clinical and morphological report of a case and a review of the literature. 61
6118994 1981

Variations for Striatonigral Degeneration, Infantile

ClinVar genetic disease variations for Striatonigral Degeneration, Infantile:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL4I1 , NUP62 NM_016553.5(NUP62):c.1172A>C (p.Gln391Pro) SNV Pathogenic 4752 rs121917865 GRCh37: 19:50411893-50411893
GRCh38: 19:49908636-49908636
2 IL4I1 , NUP62 NM_016553.5(NUP62):c.548C>T (p.Thr183Met) SNV Uncertain significance 800771 rs756420654 GRCh37: 19:50412517-50412517
GRCh38: 19:49909260-49909260
3 IL4I1 , NUP62 NM_016553.5(NUP62):c.700A>G (p.Thr234Ala) SNV Uncertain significance 1031240 GRCh37: 19:50412365-50412365
GRCh38: 19:49909108-49909108

UniProtKB/Swiss-Prot genetic disease variations for Striatonigral Degeneration, Infantile:

72
# Symbol AA change Variation ID SNP ID
1 NUP62 p.Gln391Pro VAR_034904 rs121917865

Expression for Striatonigral Degeneration, Infantile

Search GEO for disease gene expression data for Striatonigral Degeneration, Infantile.

Pathways for Striatonigral Degeneration, Infantile

Pathways related to Striatonigral Degeneration, Infantile according to KEGG:

36
# Name Kegg Source Accession
1 RNA transport hsa03013
2 Oxidative phosphorylation hsa00190

GO Terms for Striatonigral Degeneration, Infantile

Sources for Striatonigral Degeneration, Infantile

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
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