PKDYS2
MCID: PRK102
MIFTS: 26

Parkinsonism-Dystonia, Infantile, 2 (PKDYS2)

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

Aliases & Classifications for Parkinsonism-Dystonia, Infantile, 2

MalaCards integrated aliases for Parkinsonism-Dystonia, Infantile, 2:

Name: Parkinsonism-Dystonia, Infantile, 2 57 72 29 6
Pkdys2 57 72
Brain Dopamine-Serotonin Vesicular Transport Disease 58

Characteristics:

Orphanet epidemiological data:

58
brain dopamine-serotonin vesicular transport disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

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

Miscellaneous:
onset in infancy
poor response to l-dopa
favorable clinical response to dopamine receptor agonist
one consanguineous saudi arabian family has been reported (last curated july 2018)


HPO:

31
parkinsonism-dystonia, infantile, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Parkinsonism-Dystonia, Infantile, 2

OMIM® : 57 PKDYS2 is an autosomal recessive complex infantile-onset neurologic disorder characterized by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. Features of the disorder are consistent with decreased levels of monoamine neurotransmitters, although levels of these in the spinal fluid are normal. Preliminary findings indicate that treatment with a dopamine receptor agonist results in dramatic and sustained clinical improvement (summary by Rilstone et al., 2013). For a discussion of genetic heterogeneity of PKDYS, see 613135. (618049) (Updated 05-Apr-2021)

MalaCards based summary : Parkinsonism-Dystonia, Infantile, 2, also known as pkdys2, is related to brain dopamine-serotonin vesicular transport disease and hypotonia. An important gene associated with Parkinsonism-Dystonia, Infantile, 2 is SLC18A2 (Solute Carrier Family 18 Member A2). Affiliated tissues include brain and eye, and related phenotypes are ptosis and hyperhidrosis

UniProtKB/Swiss-Prot : 72 Parkinsonism-dystonia, infantile, 2: An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay.

Related Diseases for Parkinsonism-Dystonia, Infantile, 2

Diseases in the Parkinsonism-Dystonia, Infantile, 1 family:

Parkinsonism-Dystonia, Infantile, 2

Diseases related to Parkinsonism-Dystonia, Infantile, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brain dopamine-serotonin vesicular transport disease 12.0
2 hypotonia 10.4
3 parkinsonism 10.2
4 kmt2b-related dystonia 10.2
5 autonomic dysfunction 10.2

Graphical network of the top 20 diseases related to Parkinsonism-Dystonia, Infantile, 2:



Diseases related to Parkinsonism-Dystonia, Infantile, 2

Symptoms & Phenotypes for Parkinsonism-Dystonia, Infantile, 2

Human phenotypes related to Parkinsonism-Dystonia, Infantile, 2:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 Very frequent (99-80%) HP:0000508
2 hyperhidrosis 58 31 Very frequent (99-80%) HP:0000975
3 dysarthria 58 31 Very frequent (99-80%) HP:0001260
4 tremor 58 31 Very frequent (99-80%) HP:0001337
5 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
6 cognitive impairment 58 31 Very frequent (99-80%) HP:0100543
7 nasal speech 58 31 Very frequent (99-80%) HP:0001611
8 stridor 58 31 Very frequent (99-80%) HP:0010307
9 muscular hypotonia of the trunk 58 31 Very frequent (99-80%) HP:0008936
10 parkinsonism 58 31 Very frequent (99-80%) HP:0001300
11 shuffling gait 58 31 Very frequent (99-80%) HP:0002362
12 oculogyric crisis 58 31 Very frequent (99-80%) HP:0010553
13 hyperreflexia 31 HP:0001347
14 sleep disturbance 58 Very frequent (99-80%)
15 abnormality of eye movement 58 Very frequent (99-80%)
16 depressivity 31 HP:0000716
17 ataxia 58 Very frequent (99-80%)
18 gait disturbance 58 Very frequent (99-80%)
19 hypertonia 58 Very frequent (99-80%)
20 fatigue 58 Very frequent (99-80%)
21 abnormality of the foot 58 Very frequent (99-80%)
22 dystonia 58 Very frequent (99-80%)
23 dysdiadochokinesis 58 Very frequent (99-80%)
24 gait ataxia 31 HP:0002066
25 poor head control 58 Very frequent (99-80%)
26 abnormality of the vasculature 58 Very frequent (99-80%)
27 spastic tetraparesis 58 Very frequent (99-80%)
28 postnatal microcephaly 58 Very frequent (99-80%)
29 generalized hypotonia 58 Very frequent (99-80%)
30 limb dystonia 58 Very frequent (99-80%)
31 orofacial dyskinesia 58 Very frequent (99-80%)
32 temperature instability 31 HP:0005968
33 incoordination 31 HP:0002311
34 hypomimic face 58 Very frequent (99-80%)
35 abnormal autonomic nervous system physiology 31 HP:0012332
36 abnormality of coordination 58 Very frequent (99-80%)
37 inappropriate crying 58 Very frequent (99-80%)
38 stooped posture 31 HP:0025403
39 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
tremor
global developmental delay
dystonia
more
Metabolic Features:
temperature instability

Voice:
hypernasal speech

Skeletal Hands:
cold hands
poor distal perfusion

Head And Neck Face:
facial dyskinesia
facial hypomimia

Head And Neck Mouth:
oral secretions

Neurologic Behavioral Psychiatric Manifestations:
depression (in heterozygous carriers)

Head And Neck Eyes:
ptosis
oculogyric crises
limited upward gaze

Skin Nails Hair Skin:
increased sweating

Muscle Soft Tissue:
axial hypotonia
appendicular hypertonia

Skeletal Feet:
cold feet
poor distal perfusion

Head And Neck Nose:
nasal secretions

Respiratory:
noisy breathing

Laboratory Abnormalities:
normal levels of csf neurotransmitters
increased urinary homovanillic acid (hva) and 5-hydroxyindoleacetic acid (5-hiaa)
decreased urinary norepinephrine and dopamine

Clinical features from OMIM®:

618049 (Updated 05-Apr-2021)

Drugs & Therapeutics for Parkinsonism-Dystonia, Infantile, 2

Search Clinical Trials , NIH Clinical Center for Parkinsonism-Dystonia, Infantile, 2

Genetic Tests for Parkinsonism-Dystonia, Infantile, 2

Genetic tests related to Parkinsonism-Dystonia, Infantile, 2:

# Genetic test Affiliating Genes
1 Parkinsonism-Dystonia, Infantile, 2 29 SLC18A2

Anatomical Context for Parkinsonism-Dystonia, Infantile, 2

MalaCards organs/tissues related to Parkinsonism-Dystonia, Infantile, 2:

40
Brain, Eye

Publications for Parkinsonism-Dystonia, Infantile, 2

Articles related to Parkinsonism-Dystonia, Infantile, 2:

# Title Authors PMID Year
1
Brain dopamine-serotonin vesicular transport disease and its treatment. 57 61 6
23363473 2013
2
Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans. 61
30266839 2018
3
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease. 61
28716265 2017
4
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. 61
26497564 2016

Variations for Parkinsonism-Dystonia, Infantile, 2

ClinVar genetic disease variations for Parkinsonism-Dystonia, Infantile, 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC18A2 NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu) SNV Pathogenic 548130 rs1392638187 GRCh37: 10:119027221-119027221
GRCh38: 10:117267710-117267710

UniProtKB/Swiss-Prot genetic disease variations for Parkinsonism-Dystonia, Infantile, 2:

72
# Symbol AA change Variation ID SNP ID
1 SLC18A2 p.Pro387Leu VAR_081069 rs139263818

Expression for Parkinsonism-Dystonia, Infantile, 2

Search GEO for disease gene expression data for Parkinsonism-Dystonia, Infantile, 2.

Pathways for Parkinsonism-Dystonia, Infantile, 2

GO Terms for Parkinsonism-Dystonia, Infantile, 2

Sources for Parkinsonism-Dystonia, Infantile, 2

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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