MCID: HMP027
MIFTS: 20

Hemiparkinsonism-Hemiatrophy Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Hemiparkinsonism-Hemiatrophy Syndrome

MalaCards integrated aliases for Hemiparkinsonism-Hemiatrophy Syndrome:

Name: Hemiparkinsonism-Hemiatrophy Syndrome 58 6
Hp-Ha Syndrome 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Hemiparkinsonism-Hemiatrophy Syndrome

MalaCards based summary : Hemiparkinsonism-Hemiatrophy Syndrome, also known as hp-ha syndrome, is related to parkinsonism and dystonia. An important gene associated with Hemiparkinsonism-Hemiatrophy Syndrome is DRD2 (Dopamine Receptor D2). Affiliated tissues include brain, and related phenotypes are dysarthria and tremor

Related Diseases for Hemiparkinsonism-Hemiatrophy Syndrome

Diseases related to Hemiparkinsonism-Hemiatrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parkinsonism 10.6
2 dystonia 10.4
3 tremor 10.3
4 parkinson disease, late-onset 10.1
5 hemidystonia 10.1
6 scoliosis 10.1
7 movement disease 10.1
8 hypertonia 10.1
9 hypotonia 10.1

Graphical network of the top 20 diseases related to Hemiparkinsonism-Hemiatrophy Syndrome:



Diseases related to Hemiparkinsonism-Hemiatrophy Syndrome

Symptoms & Phenotypes for Hemiparkinsonism-Hemiatrophy Syndrome

Human phenotypes related to Hemiparkinsonism-Hemiatrophy Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
2 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
3 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
4 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
5 hyperactive deep tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0006801
6 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
7 hemiatrophy 58 31 frequent (33%) Frequent (79-30%) HP:0100556
8 parkinsonism 58 31 frequent (33%) Frequent (79-30%) HP:0001300
9 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
10 neonatal asphyxia 58 31 frequent (33%) Frequent (79-30%) HP:0012768
11 dilation of lateral ventricles 58 31 frequent (33%) Frequent (79-30%) HP:0006956
12 hemifacial atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0011331
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
15 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
16 cerebral cortical hemiatrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100308
17 brain atrophy 58 Frequent (79-30%)

Drugs & Therapeutics for Hemiparkinsonism-Hemiatrophy Syndrome

Search Clinical Trials , NIH Clinical Center for Hemiparkinsonism-Hemiatrophy Syndrome

Genetic Tests for Hemiparkinsonism-Hemiatrophy Syndrome

Anatomical Context for Hemiparkinsonism-Hemiatrophy Syndrome

MalaCards organs/tissues related to Hemiparkinsonism-Hemiatrophy Syndrome:

40
Brain

Publications for Hemiparkinsonism-Hemiatrophy Syndrome

Articles related to Hemiparkinsonism-Hemiatrophy Syndrome:

(show all 20)
# Title Authors PMID Year
1
Subcortical and brainstem hemiatrophy accompanied by iron deposition in a patient with hemiparkinsonism-hemiatrophy syndrome: a case report. 61
33535984 2021
2
Hemiparkinsonism or Hemidystonia With Hemiatrophy Syndrome: A Case Series With Follow-Up. 61
32116511 2020
3
Midbrain hemiatrophy and nigral rarefaction in a patient with hemiparkinsonism-hemiatrophy syndrome. 61
27664073 2016
4
Hemiparkinsonism-hemiatrophy syndrome with Alzheimer's disease. 61
25583392 2015
5
Hemiparkinsonism-hemiatrophy syndrome - report on two cases and review of the literature. 61
23986429 2013
6
Hemiparkinsonism-hemiatrophy syndrome. 61
21361726 2011
7
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 61
20945435 2011
8
[A case of hemiparkinsonism--hemiatrophy syndrome with early onset]. 61
21465822 2010
9
Hemibody mirror movements in hemiparkinsonism-hemiatrophy syndrome. 61
19766249 2009
10
Hemidystonia-hemiatrophy syndrome. 61
19097182 2009
11
Hemiparkinsonism-hemiatrophy syndrome. 61
17938368 2007
12
[Late onset hemiparkinsonism-hemiatrophy syndrome: a case report]. 61
15960180 2005
13
Hemiparkinsonism-hemiatrophy syndrome (HHS) : a clinical dilemma. 61
29542542 1996
14
Hemiatrophy, juvenile-onset exertional alternating leg paresis, hypotonia, and hemidystonia and adult-onset hemiparkinsonism: the spectrum of hemiparkinsonism-hemiatrophy syndrome. 61
7565831 1995
15
Metabolic topography of the hemiparkinsonism-hemiatrophy syndrome. 61
7936286 1994
16
Hemiparkinsonism-hemiatrophy syndrome: neuroradiological and neurophysiological findings. 61
8174592 1994
17
Brain glucose metabolism and dopamine D2 receptor analysis in a patient with hemiparkinsonism-hemiatrophy syndrome. 61
8341311 1993
18
Positron emission tomography in hemiparkinsonism-hemiatrophy syndrome. 61
8420178 1993
19
Hemiparkinsonism-hemiatrophy syndrome may mimic early-stage cortical-basal ganglionic degeneration. 61
1484539 1992
20
Hemiparkinsonism-hemiatrophy syndrome: clinical and neuroradiologic features. 61
2234429 1990

Variations for Hemiparkinsonism-Hemiatrophy Syndrome

ClinVar genetic disease variations for Hemiparkinsonism-Hemiatrophy Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 H3-3B NM_005324.5(H3-3B):c.354C>A (p.Val118=) SNV Uncertain significance 986385 GRCh37: 17:73774733-73774733
GRCh38: 17:75778652-75778652

Expression for Hemiparkinsonism-Hemiatrophy Syndrome

Search GEO for disease gene expression data for Hemiparkinsonism-Hemiatrophy Syndrome.

Pathways for Hemiparkinsonism-Hemiatrophy Syndrome

GO Terms for Hemiparkinsonism-Hemiatrophy Syndrome

Sources for Hemiparkinsonism-Hemiatrophy Syndrome

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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