MCID: STR093
MIFTS: 20

Striatonigral Degeneration, Childhood-Onset

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 57 75 29 6
Lenk-Ploski Syndrome 57 59 75
Sndc 57 75
Childhood-Onset Basal Ganglia Degeneration Syndrome 59

Characteristics:

OMIM:

57
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:

32
striatonigral degeneration, childhood-onset:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Striatonigral Degeneration, Childhood-Onset

UniProtKB/Swiss-Prot : 75 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, PIKFYVE Complex Component). Affiliated tissues include brain, and related phenotypes are delayed speech and language development and hypertonia

Description from OMIM: 617054

Related Diseases for Striatonigral Degeneration, Childhood-Onset

Symptoms & Phenotypes for Striatonigral Degeneration, Childhood-Onset

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Striatonigral Degeneration, Childhood-Onset:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 hypertonia 32 HP:0001276
3 hyperreflexia 32 HP:0001347
4 dysphagia 32 HP:0002015
5 drooling 32 HP:0002307
6 unsteady gait 32 HP:0002317
7 developmental regression 32 HP:0002376
8 loss of ability to walk 32 HP:0006957
9 craniofacial dystonia 32 HP:0012179

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 29 VAC14

Anatomical Context for Striatonigral Degeneration, Childhood-Onset

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

41
Brain

Publications for Striatonigral Degeneration, Childhood-Onset

Variations for Striatonigral Degeneration, Childhood-Onset

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

75
# 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 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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