MCID: PRL020
MIFTS: 12

Paralysis Agitans, Juvenile, of Hunt

Categories: Rare diseases
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Aliases & Classifications for Paralysis Agitans, Juvenile, of Hunt

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

Name: Paralysis Agitans, Juvenile, of Hunt 57 19
Parkinson Disease, Juvenile, of Hunt 57 19

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 168100
MedGen 40 C0238344

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:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 30 HP:0001260
2 gait disturbance 30 HP:0001288
3 tremor 30 HP:0001337
4 mask-like facies 30 HP:0000298
5 dystonia 30 HP:0001332
6 rigidity 30 HP:0002063
7 parkinsonism 30 HP:0001300
8 bradykinesia 30 HP:0002067

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neuro:
dysarthria
gait disturbance
tremor
rigidity
parkinsonism
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 (Updated 24-Oct-2022)

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. 57
942621 1976
2
Juvenile parkinsonism. 57
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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