SNDC
MCID: STR093
MIFTS: 26

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 57 72 29 6
Lenk-Ploski Syndrome 57 58 72
Sndc 57 72
Childhood-Onset Basal Ganglia Degeneration Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
striatonigral degeneration, childhood-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Striatonigral Degeneration, Childhood-Onset

UniProtKB/Swiss-Prot : 72 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, also known as lenk-ploski syndrome, is related to striatonigral degeneration. An important gene associated with Striatonigral Degeneration, Childhood-Onset is VAC14 (VAC14 Component Of PIKFYVE Complex). Affiliated tissues include brain, t cells and b cells, and related phenotypes are hyperreflexia and dysphagia

More information from OMIM: 617054 PS271930

Related Diseases for Striatonigral Degeneration, Childhood-Onset

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

# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration 9.5 VAC14-AS1 VAC14

Symptoms & Phenotypes for Striatonigral Degeneration, Childhood-Onset

Human phenotypes related to Striatonigral Degeneration, Childhood-Onset:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 dysphagia 31 HP:0002015
3 developmental regression 31 HP:0002376
4 delayed speech and language development 31 HP:0000750
5 hypertonia 31 HP:0001276
6 loss of ability to walk 31 HP:0006957
7 unsteady gait 31 HP:0002317
8 drooling 31 HP:0002307
9 craniofacial dystonia 31 HP:0012179

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Brain, T Cells, B Cells, Skin

Publications for Striatonigral Degeneration, Childhood-Onset

Articles related to Striatonigral Degeneration, Childhood-Onset:

(show all 15)
# Title Authors PMID Year
1
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease. 57 6
27292112 2016
2
Enhancing Bifunctional Electrocatalytic Activities of Oxygen Electrodes via Incorporating Highly Conductive Sm3+ and Nd3+ Double-Doped Ceria for Reversible Solid Oxide Cells. 61
33398987 2021
3
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration. 61
31876398 2020
4
Recurrent pregnancy loss is associated with a pro-senescent decidual response during the peri-implantation window. 61
31965050 2020
5
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. 61
31387860 2019
6
Development of a Silver Diamine Fluoride Protocol in Safety Net Dental Settings. 61
30992099 2019
7
Soluble nondigestible carbohydrates improve intestinal function and increase caecal coliform load in broiler chickens. 61
30221417 2018
8
Combining Linker Design and Linker-Exchange Strategies for the Synthesis of a Stable Large-Pore Zr-Based Metal-Organic Framework. 61
30226038 2018
9
Power and Time Dependent Microwave Assisted Fabrication of Silver Nanoparticles Decorated Cotton (SNDC) Fibers for Bacterial Decontamination. 61
28316594 2017
10
Topical silver treatment after escharectomy of infected full thickness burn wounds in rats. 61
15920422 2005
11
Integra as a dermal replacement in a meshed composite skin graft in a rat model: a one-step operative procedure. 61
11791062 2002
12
Selective attraction of naive and memory B cells by dendritic cells. 61
11590201 2001
13
Accelerated healing with a mesh autograft/allodermal composite skin graft treated with silver nylon dressings with and without direct current in rats. 61
10912867 2000
14
Differential expression of alpha2-6 sialylated polylactosamine structures by human B and T cells. 61
10089214 1999
15
Enhanced survival of autoepidermal-allodermal composite grafts in allosensitized animals by use of silver-nylon dressings and direct current. 61
7674396 1995

Variations for Striatonigral Degeneration, Childhood-Onset

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VAC14 NM_018052.5(VAC14):c.1528+1G>A SNV Pathogenic 253141 rs879255555 GRCh37: 16:70778325-70778325
GRCh38: 16:70744422-70744422
2 VAC14 NM_018052.5(VAC14):c.1744G>T (p.Ala582Ser) SNV Pathogenic 253142 rs749094914 GRCh37: 16:70732632-70732632
GRCh38: 16:70698729-70698729
3 VAC14-AS1 , VAC14 NM_018052.5(VAC14):c.1271G>T (p.Trp424Leu) SNV Pathogenic 253140 rs762388639 GRCh37: 16:70796818-70796818
GRCh38: 16:70762915-70762915
4 VAC14 NM_018052.5(VAC14):c.1748C>T (p.Ser583Leu) SNV Pathogenic 253143 rs879255645 GRCh37: 16:70732628-70732628
GRCh38: 16:70698725-70698725
5 VAC14 NM_018052.5(VAC14):c.2005G>T (p.Val669Leu) SNV Uncertain significance 638191 rs1363536856 GRCh37: 16:70729477-70729477
GRCh38: 16:70695574-70695574
6 VAC14 NM_018052.5(VAC14):c.2015T>C (p.Ile672Thr) SNV Uncertain significance 1030622 GRCh37: 16:70729467-70729467
GRCh38: 16:70695564-70695564
7 VAC14 NM_018052.5(VAC14):c.1723C>T (p.Arg575Trp) SNV Uncertain significance 1032018 GRCh37: 16:70732653-70732653
GRCh38: 16:70698750-70698750

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

72
# 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

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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