MCID: PRL020
MIFTS: 12

Paralysis Agitans, Juvenile, of Hunt

Categories: Rare diseases

Aliases & Classifications for Paralysis Agitans, Juvenile, of Hunt

MalaCards integrated aliases for Paralysis Agitans, Juvenile, of Hunt:

Name: Paralysis Agitans, Juvenile, of Hunt 56 52
Parkinson Disease, Juvenile, of Hunt 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
paralysis agitans, juvenile, of hunt:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:



Summaries for Paralysis Agitans, Juvenile, of Hunt

MalaCards based summary : Paralysis Agitans, Juvenile, of Hunt, is also known as parkinson disease, juvenile, of hunt. Related phenotypes are dysarthria and gait disturbance

More information from OMIM: 168100

Related Diseases for Paralysis Agitans, Juvenile, of Hunt

Symptoms & Phenotypes for Paralysis Agitans, Juvenile, of Hunt

Human phenotypes related to Paralysis Agitans, Juvenile, of Hunt:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 gait disturbance 31 HP:0001288
3 tremor 31 HP:0001337
4 abnormality of metabolism/homeostasis 31 HP:0001939
5 dystonia 31 HP:0001332
6 mask-like facies 31 HP:0000298
7 rigidity 31 HP:0002063
8 bradykinesia 31 HP:0002067
9 parkinsonism 31 HP:0001300

Symptoms via clinical synopsis from OMIM:

56
Neuro:
dysarthria
gait disturbance
tremor
rigidity
bradykinesia
more
Misc:
onset in teens or earlier
very slow progression

Facies:
masklike facies

Lab:
degeneration and loss of large cells of lenticular nuclei
normal substantia nigra

Clinical features from OMIM:

168100

Drugs & Therapeutics for Paralysis Agitans, Juvenile, of Hunt

Search Clinical Trials , NIH Clinical Center for Paralysis Agitans, Juvenile, of Hunt

Genetic Tests for Paralysis Agitans, Juvenile, of Hunt

Anatomical Context for Paralysis Agitans, Juvenile, of Hunt

Publications for Paralysis Agitans, Juvenile, of Hunt

Articles related to Paralysis Agitans, Juvenile, of Hunt:

# Title Authors PMID Year
1
Hereditary Parkinsonism-dystonia with sustained control by L-DOPA and anticholinergic medication. 56
942621 1976
2
Juvenile parkinsonism. 56
4398909 1971

Variations for Paralysis Agitans, Juvenile, of Hunt

Expression for Paralysis Agitans, Juvenile, of Hunt

Search GEO for disease gene expression data for Paralysis Agitans, Juvenile, of Hunt.

Pathways for Paralysis Agitans, Juvenile, of Hunt

GO Terms for Paralysis Agitans, Juvenile, of Hunt

Sources for Paralysis Agitans, Juvenile, of Hunt

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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