MCID: STR085
MIFTS: 40

Striatonigral Degeneration, Infantile

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Striatonigral Degeneration, Infantile

MalaCards integrated aliases for Striatonigral Degeneration, Infantile:

Name: Striatonigral Degeneration, Infantile 57 13 73
Infantile Bilateral Striatal Necrosis 57 53 75 37
Striatonigral Degeneration Infantile 53 29 6 40
Sndi 57 53 75
Ibsn 57 53 75
Infantile Bilateral Striatal Necrosis; Ibsn 57
Bilateral Striatal Necrosis, Infantile 57
Infantile Striatonigral Degeneration 75
Striatal Degeneration, Familial 57
Striatal Degeneration Familial 53
Familial Striatal Degeneration 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
striatonigral degeneration, infantile:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Striatonigral Degeneration, Infantile

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1576Disease definitionInfantile 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).EpidemiologyThe 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 descriptionThe 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.EtiologyAutosomal 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 methodsDiagnosis 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 diagnosisDifferential 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 diagnosisAntenatal diagnosis and genetic counseling is offered to families of affected patients.Genetic counselingFamilial IBSN can be inherited as an autosomal recessive or mitochondrial disorder.Management and treatmentThere 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.PrognosisPrognosis 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.Visit the Orphanet disease page for more resources.

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, brain and caudate nucleus, and related phenotypes are optic atrophy and intellectual disability

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)

UniProtKB/Swiss-Prot : 75 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 34)
# Related Disease Score Top Affiliating Genes
1 familial infantile bilateral striatal necrosis 33.6 MT-ATP6 NUP62
2 striatonigral degeneration, infantile, mitochondrial 30.3 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
3 sporadic infantile bilateral striatal necrosis 12.3
4 leber optic atrophy and dystonia 10.3 MT-ND3 MT-ND4
5 sparganosis 10.2 MT-ND3 MT-ND4
6 striatonigral degeneration 9.9 MT-ND4L NUP62
7 mitochondrial metabolism disease 9.8 MT-ATP6 MT-ND3
8 periodic paralysis with later-onset distal motor neuropathy 9.7 MT-ATP6 MT-ATP8
9 mitochondrial complex iv deficiency 9.7 MT-CO3 MT-ND3
10 isolated atp synthase deficiency 9.7 MT-ATP6 MT-ATP8
11 lactic acidosis 9.7 MT-ATP6 MT-CO3 MT-ND4
12 sideroblastic anemia acquired 9.7 MT-ATP6 MT-ATP8
13 cercarial dermatitis 9.6 MT-ATP8 MT-ND4
14 mitochondrial complex v deficiency 9.6 MT-ATP6 MT-ATP8
15 diphyllobothriasis 9.6 MT-ATP8 MT-ND3
16 mitochondrial disorders 9.6 MT-ATP6 MT-ND3 MT-ND4
17 mitochondrial encephalomyopathy 9.5 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
18 mitochondrial complex i deficiency 9.3 MT-ND3 MT-ND4 MT-ND4L
19 mitochondrial dna-associated leigh syndrome and narp 9.3 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
20 kearns-sayre syndrome 9.1 MT-ATP6 MT-ATP8 MT-ND4
21 myopathy 9.0 MT-ATP6 MT-CO3 MT-ND3 MT-ND4
22 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.9 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
23 mitochondrial dna depletion syndrome 1 8.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3
24 leber hereditary optic neuropathy 8.9 MT-ATP6 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
25 deafness, nonsyndromic sensorineural, mitochondrial 8.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
26 mitochondrial myopathy 8.8 MT-ATP6 MT-ATP8 MT-CO3 MT-ND4
27 cardiomyopathy, infantile hypertrophic 8.5 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4L
28 leber optic atrophy 7.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
29 ataxia and polyneuropathy, adult-onset 7.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
30 myopathy, lactic acidosis, and sideroblastic anemia 3 7.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
31 myopathy, lactic acidosis, and sideroblastic anemia 7.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
32 familial colorectal cancer 7.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
33 leigh syndrome 7.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L
34 retinitis pigmentosa 7.9 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4 MT-ND4L

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



Diseases related to Striatonigral Degeneration, Infantile

Symptoms & Phenotypes for Striatonigral Degeneration, Infantile

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Striatonigral Degeneration, Infantile:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 intellectual disability 32 HP:0001249
3 spasticity 32 HP:0001257
4 choreoathetosis 32 HP:0001266
5 dystonia 32 HP:0001332
6 failure to thrive 32 HP:0001508
7 dysphagia 32 HP:0002015
8 developmental regression 32 HP:0002376
9 developmental stagnation 32 HP:0007281
10 pendular nystagmus 32 HP:0012043

UMLS symptoms related to Striatonigral Degeneration, Infantile:


muscle spasticity

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:

41
Globus Pallidus, Brain, Caudate Nucleus

Publications for Striatonigral Degeneration, Infantile

Articles related to Striatonigral Degeneration, Infantile:

# Title Authors Year
1
Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis. ( 29510394 )
2017
2
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. ( 16786527 )
2006
3
Infantile bilateral striatal necrosis maps to chromosome 19q. ( 14718703 )
2004
4
Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment. ( 12374138 )
2002
5
Infantile bilateral striatal necrosis following measles. ( 10838107 )
2000
6
[Acute infantile bilateral striatal necrosis]. ( 9235852 )
1997
7
Infantile bilateral striatal necrosis: chronic and acute manifestations in a single case. ( 8059931 )
1994

Variations for Striatonigral Degeneration, Infantile

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

75
# Symbol AA change Variation ID SNP ID
1 NUP62 p.Gln391Pro VAR_034904 rs121917865

ClinVar genetic disease variations for Striatonigral Degeneration, Infantile:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUP62 NM_016553.4(NUP62): c.1172A> C (p.Gln391Pro) single nucleotide variant Pathogenic rs121917865 GRCh37 Chromosome 19, 50411893: 50411893
2 NUP62 NM_016553.4(NUP62): c.1172A> C (p.Gln391Pro) single nucleotide variant Pathogenic rs121917865 GRCh38 Chromosome 19, 49908636: 49908636

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:

37
# Name Kegg Source Accession
1 RNA transport hsa03013
2 Oxidative phosphorylation hsa00190

GO Terms for Striatonigral Degeneration, Infantile

Cellular components related to Striatonigral Degeneration, Infantile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory chain GO:0070469 9.5 MT-ND3 MT-ND4 MT-ND4L
2 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND3 MT-ND4 MT-ND4L
3 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.4 MT-ATP6 MT-ATP8
4 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP6 MT-ATP8
5 mitochondrial inner membrane GO:0005743 9.35 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3 MT-ND4
6 NADH dehydrogenase complex GO:0030964 9.16 MT-ND3 MT-ND4L
7 mitochondrial membrane GO:0031966 8.92 MT-ATP8 MT-ND3 MT-ND4 MT-ND4L

Biological processes related to Striatonigral Degeneration, Infantile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.71 IL4I1 MT-ND3 MT-ND4 MT-ND4L
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.46 MT-ND3 MT-ND4
3 aerobic respiration GO:0009060 9.43 MT-CO3 MT-ND4
4 ATP biosynthetic process GO:0006754 9.37 MT-ATP6 MT-ATP8
5 cristae formation GO:0042407 9.32 MT-ATP6 MT-ATP8
6 ATP synthesis coupled proton transport GO:0015986 9.26 MT-ATP6 MT-ATP8
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP6 MT-ATP8
8 ATP synthesis coupled electron transport GO:0042773 8.96 MT-ND4 MT-ND4L
9 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.8 MT-ND3 MT-ND4 MT-ND4L

Molecular functions related to Striatonigral Degeneration, Infantile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.26 IL4I1 MT-ND3 MT-ND4 MT-ND4L
2 proton transmembrane transporter activity GO:0015078 9.16 MT-ATP6 MT-ATP8
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.8 MT-ND3 MT-ND4 MT-ND4L

Sources for Striatonigral Degeneration, Infantile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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