SNDC
MCID: STR093
MIFTS: 20

Striatonigral Degeneration, Childhood-Onset (SNDC)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Striatonigral Degeneration, Childhood-Onset

MalaCards integrated aliases for Striatonigral Degeneration, Childhood-Onset:

Name: Striatonigral Degeneration, Childhood-Onset 58 76 30 6
Lenk-Ploski Syndrome 58 60 76
Sndc 58 76
Childhood-Onset Basal Ganglia Degeneration Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
abrupt onset
symptoms exacerbated during infection or after anesthesia
two unrelated boys have been reported (last curated july 2016)


HPO:

33
striatonigral degeneration, childhood-onset:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Striatonigral Degeneration, Childhood-Onset

UniProtKB/Swiss-Prot : 76 Striatonigral degeneration, childhood-onset: An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI.

MalaCards based summary : Striatonigral Degeneration, Childhood-Onset, is also known as lenk-ploski syndrome. An important gene associated with Striatonigral Degeneration, Childhood-Onset is VAC14 (VAC14 Component Of PIKFYVE Complex). Affiliated tissues include brain, and related phenotypes are hyperreflexia and dysphagia

Description from OMIM: 617054

Related Diseases for Striatonigral Degeneration, Childhood-Onset

Symptoms & Phenotypes for Striatonigral Degeneration, Childhood-Onset

Human phenotypes related to Striatonigral Degeneration, Childhood-Onset:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 33 HP:0001347
2 dysphagia 33 HP:0002015
3 developmental regression 33 HP:0002376
4 delayed speech and language development 33 HP:0000750
5 hypertonia 33 HP:0001276
6 drooling 33 HP:0002307
7 unsteady gait 33 HP:0002317
8 loss of ability to walk 33 HP:0006957
9 craniofacial dystonia 33 HP:0012179

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
developmental regression
dystonia
loss of ability to walk
gait instability
more
Head And Neck Mouth:
drooling
hypersalivation

Muscle Soft Tissue:
increased muscle tone

Abdomen Gastrointestinal:
dysphagia

Head And Neck Face:
facial dystonia

Clinical features from OMIM:

617054

Drugs & Therapeutics for Striatonigral Degeneration, Childhood-Onset

Search Clinical Trials , NIH Clinical Center for Striatonigral Degeneration, Childhood-Onset

Genetic Tests for Striatonigral Degeneration, Childhood-Onset

Genetic tests related to Striatonigral Degeneration, Childhood-Onset:

# Genetic test Affiliating Genes
1 Striatonigral Degeneration, Childhood-Onset 30 VAC14

Anatomical Context for Striatonigral Degeneration, Childhood-Onset

MalaCards organs/tissues related to Striatonigral Degeneration, Childhood-Onset:

42
Brain

Publications for Striatonigral Degeneration, Childhood-Onset

Articles related to Striatonigral Degeneration, Childhood-Onset:

# Title Authors Year
1
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease. ( 27292112 )
2016

Variations for Striatonigral Degeneration, Childhood-Onset

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

76
# Symbol AA change Variation ID SNP ID
1 VAC14 p.Trp424Leu VAR_077031 rs762388639
2 VAC14 p.Ala582Ser VAR_077032 rs749094914
3 VAC14 p.Ser583Leu VAR_077033 rs879255645

ClinVar genetic disease variations for Striatonigral Degeneration, Childhood-Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VAC14 NM_018052.3(VAC14): c.1271G> T (p.Trp424Leu) single nucleotide variant Pathogenic rs762388639 GRCh38 Chromosome 16, 70762915: 70762915
2 VAC14 NM_018052.3(VAC14): c.1271G> T (p.Trp424Leu) single nucleotide variant Pathogenic rs762388639 GRCh37 Chromosome 16, 70796818: 70796818
3 VAC14 NM_018052.3(VAC14): c.1528+1G> A single nucleotide variant Pathogenic rs879255555 GRCh38 Chromosome 16, 70744422: 70744422
4 VAC14 NM_018052.3(VAC14): c.1528+1G> A single nucleotide variant Pathogenic rs879255555 GRCh37 Chromosome 16, 70778325: 70778325
5 VAC14 NM_018052.3(VAC14): c.1744G> T (p.Ala582Ser) single nucleotide variant Pathogenic rs749094914 GRCh38 Chromosome 16, 70698729: 70698729
6 VAC14 NM_018052.3(VAC14): c.1744G> T (p.Ala582Ser) single nucleotide variant Pathogenic rs749094914 GRCh37 Chromosome 16, 70732632: 70732632
7 VAC14 NM_018052.4(VAC14): c.1748C> T (p.Ser583Leu) single nucleotide variant Pathogenic rs879255645 GRCh38 Chromosome 16, 70698725: 70698725
8 VAC14 NM_018052.4(VAC14): c.1748C> T (p.Ser583Leu) single nucleotide variant Pathogenic rs879255645 GRCh37 Chromosome 16, 70732628: 70732628

Expression for Striatonigral Degeneration, Childhood-Onset

Search GEO for disease gene expression data for Striatonigral Degeneration, Childhood-Onset.

Pathways for Striatonigral Degeneration, Childhood-Onset

GO Terms for Striatonigral Degeneration, Childhood-Onset

Sources for Striatonigral Degeneration, Childhood-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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