PKDYS2
MCID: PRK102
MIFTS: 21

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 58 76 6
Pkdys2 58 76
Brain Dopamine-Serotonin Vesicular Transport Disease 60

Characteristics:

Orphanet epidemiological data:

60
brain dopamine-serotonin vesicular transport disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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)


Classifications:



External Ids:

OMIM 58 618049
ICD10 via Orphanet 35 G25.8
Orphanet 60 ORPHA352649
MedGen 43 CN248785

Summaries for Parkinsonism-Dystonia, Infantile, 2

OMIM : 58 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)

MalaCards based summary : Parkinsonism-Dystonia, Infantile, 2, also known as pkdys2, is related to brain dopamine-serotonin vesicular transport disease. 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 abnormality of eye movement and ptosis

UniProtKB/Swiss-Prot : 76 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 12.9

Symptoms & Phenotypes for Parkinsonism-Dystonia, Infantile, 2

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

60 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 60 Very frequent (99-80%)
2 ptosis 60 Very frequent (99-80%)
3 hyperhidrosis 60 Very frequent (99-80%)
4 ataxia 60 Very frequent (99-80%)
5 dysarthria 60 Very frequent (99-80%)
6 gait disturbance 60 Very frequent (99-80%)
7 tremor 60 Very frequent (99-80%)
8 sleep disturbance 60 Very frequent (99-80%)
9 global developmental delay 60 Very frequent (99-80%)
10 hypertonia 60 Very frequent (99-80%)
11 cognitive impairment 60 Very frequent (99-80%)
12 fatigue 60 Very frequent (99-80%)
13 abnormality of the foot 60 Very frequent (99-80%)
14 dystonia 60 Very frequent (99-80%)
15 nasal speech 60 Very frequent (99-80%)
16 abnormality of the vasculature 60 Very frequent (99-80%)
17 dysdiadochokinesis 60 Very frequent (99-80%)
18 generalized hypotonia 60 Very frequent (99-80%)
19 shuffling gait 60 Very frequent (99-80%)
20 spastic tetraparesis 60 Very frequent (99-80%)
21 stridor 60 Very frequent (99-80%)
22 parkinsonism 60 Very frequent (99-80%)
23 postnatal microcephaly 60 Very frequent (99-80%)
24 hypomimic face 60 Very frequent (99-80%)
25 poor head control 60 Very frequent (99-80%)
26 oculogyric crisis 60 Very frequent (99-80%)
27 muscular hypotonia of the trunk 60 Very frequent (99-80%)
28 orofacial dyskinesia 60 Very frequent (99-80%)
29 limb dystonia 60 Very frequent (99-80%)
30 abnormality of coordination 60 Very frequent (99-80%)
31 inappropriate crying 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
oculogyric crises
limited upward gaze

Metabolic Features:
temperature instability

Voice:
hypernasal speech

Muscle Soft Tissue:
axial hypotonia
appendicular hypertonia

Skeletal Feet:
cold feet
poor distal perfusion

Head And Neck Nose:
nasal secretions

Neurologic Behavioral Psychiatric Manifestations:
depression (in heterozygous carriers)

Neurologic Central Nervous System:
dysarthria
tremor
hyperreflexia
global developmental delay
dystonia
more
Skin Nails Hair Skin:
increased sweating

Respiratory:
noisy breathing

Skeletal Hands:
cold hands
poor distal perfusion

Head And Neck Face:
facial dyskinesia
facial hypomimia

Head And Neck Mouth:
oral secretions

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

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

Anatomical Context for Parkinsonism-Dystonia, Infantile, 2

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

42
Brain, Eye

Publications for Parkinsonism-Dystonia, Infantile, 2

Articles related to Parkinsonism-Dystonia, Infantile, 2:

# Title Authors Year
1
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder. ( 26497564 )
2016
2
Brain dopamine-serotonin vesicular transport disease and its treatment. ( 23363473 )
2013

Variations for Parkinsonism-Dystonia, Infantile, 2

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

76
# Symbol AA change Variation ID SNP ID
1 SLC18A2 p.Pro387Leu VAR_081069 rs139263818

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC18A2 NM_003054.4(SLC18A2): c.1160C> T (p.Pro387Leu) single nucleotide variant Pathogenic rs1392638187 GRCh38 Chromosome 10, 117267710: 117267710
2 SLC18A2 NM_003054.4(SLC18A2): c.1160C> T (p.Pro387Leu) single nucleotide variant Pathogenic rs1392638187 GRCh37 Chromosome 10, 119027221: 119027221

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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29 GO
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31 HGMD
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35 ICD10 via Orphanet
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46 MESH via Orphanet
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50 NCI
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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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