PKDYS2
MCID: PRK102
MIFTS: 22

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 75 6
Pkdys2 57 75
Brain Dopamine-Serotonin Vesicular Transport Disease 59

Characteristics:

Orphanet epidemiological data:

59
brain dopamine-serotonin vesicular transport disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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 57 618049
Orphanet 59 ORPHA352649
ICD10 via Orphanet 34 G25.8
MedGen 42 CN248785

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)

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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
oculogyric crises
limited upward gaze

Metabolic Features:
temperature instability

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

Neurologic Behavioral Psychiatric Manifestations:
depression (in heterozygous carriers)

Neurologic Central Nervous System:
dysarthria
tremor
hyperreflexia
global developmental delay
dystonia
more
Voice:
hypernasal speech

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

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

59 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of eye movement 59 Very frequent (99-80%)
2 ptosis 59 Very frequent (99-80%)
3 hyperhidrosis 59 Very frequent (99-80%)
4 ataxia 59 Very frequent (99-80%)
5 dysarthria 59 Very frequent (99-80%)
6 gait disturbance 59 Very frequent (99-80%)
7 tremor 59 Very frequent (99-80%)
8 sleep disturbance 59 Very frequent (99-80%)
9 global developmental delay 59 Very frequent (99-80%)
10 hypertonia 59 Very frequent (99-80%)
11 cognitive impairment 59 Very frequent (99-80%)
12 fatigue 59 Very frequent (99-80%)
13 abnormality of the foot 59 Very frequent (99-80%)
14 dystonia 59 Very frequent (99-80%)
15 nasal speech 59 Very frequent (99-80%)
16 abnormality of the vasculature 59 Very frequent (99-80%)
17 dysdiadochokinesis 59 Very frequent (99-80%)
18 generalized hypotonia 59 Very frequent (99-80%)
19 shuffling gait 59 Very frequent (99-80%)
20 spastic tetraparesis 59 Very frequent (99-80%)
21 stridor 59 Very frequent (99-80%)
22 parkinsonism 59 Very frequent (99-80%)
23 postnatal microcephaly 59 Very frequent (99-80%)
24 hypomimic face 59 Very frequent (99-80%)
25 poor head control 59 Very frequent (99-80%)
26 oculogyric crisis 59 Very frequent (99-80%)
27 orofacial dyskinesia 59 Very frequent (99-80%)
28 muscular hypotonia of the trunk 59 Very frequent (99-80%)
29 limb dystonia 59 Very frequent (99-80%)
30 abnormality of coordination 59 Very frequent (99-80%)
31 inappropriate crying 59 Very frequent (99-80%)

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:

41
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

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 GRCh38 Chromosome 10, 117267710: 117267710
2 SLC18A2 NM_003054.4(SLC18A2): c.1160C> T (p.Pro387Leu) single nucleotide variant Pathogenic 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
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
Content
Loading form....