WSN
MCID: ERL033
MIFTS: 15

Early-Onset Parkinsonism-Intellectual Disability Syndrome (WSN)

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Early-Onset Parkinsonism-Intellectual Disability Syndrome

MalaCards integrated aliases for Early-Onset Parkinsonism-Intellectual Disability Syndrome:

Name: Early-Onset Parkinsonism-Intellectual Disability Syndrome 53
Waisman Syndrome 53 72
X-Linked Recessive Basal Ganglia Disorder with Mental Retardation 53
Basal Ganglia Disorder with Mental Retardation 53
Laxova Brown Hogan Syndrome 53
Laxova-Opitz Syndrome 53
Bgmr 53
Wsn 53

Classifications:



External Ids:

UMLS 72 C0796195

Summaries for Early-Onset Parkinsonism-Intellectual Disability Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2379DefinitionEarly-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.Visit the Orphanet disease page for more resources.

MalaCards based summary : Early-Onset Parkinsonism-Intellectual Disability Syndrome, also known as waisman syndrome, is related to white sponge nevus 1 and waisman syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. Related phenotypes are macrocephaly and frontal bossing

Related Diseases for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Diseases related to Early-Onset Parkinsonism-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 white sponge nevus 1 12.0
2 waisman syndrome 11.7
3 pettigrew syndrome 11.3
4 influenza 10.6
5 newcastle disease 10.2
6 vaccinia 10.2
7 avian influenza 10.2
8 encephalitis 10.2
9 heavy chain deposition disease 10.2
10 strabismus 10.1
11 mechanical strabismus 10.1
12 tremor 10.1

Graphical network of the top 20 diseases related to Early-Onset Parkinsonism-Intellectual Disability Syndrome:



Diseases related to Early-Onset Parkinsonism-Intellectual Disability Syndrome

Symptoms & Phenotypes for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Human phenotypes related to Early-Onset Parkinsonism-Intellectual Disability Syndrome:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 hallmark (90%) HP:0000256
2 frontal bossing 32 hallmark (90%) HP:0002007
3 intellectual disability 32 hallmark (90%) HP:0001249
4 neurological speech impairment 32 hallmark (90%) HP:0002167
5 abnormality of movement 32 hallmark (90%) HP:0100022
6 cogwheel rigidity 32 hallmark (90%) HP:0002396
7 seizures 32 frequent (33%) HP:0001250
8 strabismus 32 frequent (33%) HP:0000486

UMLS symptoms related to Early-Onset Parkinsonism-Intellectual Disability Syndrome:


tremor, bradykinesia, muscle rigidity

Drugs & Therapeutics for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Genetic Tests for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Anatomical Context for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Publications for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Articles related to Early-Onset Parkinsonism-Intellectual Disability Syndrome:

# Title Authors PMID Year
1
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene. 38
28851564 2017
2
Numerous microRNPs in neuronal cells containing novel microRNAs. 38
12554860 2003
3
[Genetics in movement disorders]. 38
8277574 1993
4
Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. 38
1674730 1991

Variations for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Expression for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Search GEO for disease gene expression data for Early-Onset Parkinsonism-Intellectual Disability Syndrome.

Pathways for Early-Onset Parkinsonism-Intellectual Disability Syndrome

GO Terms for Early-Onset Parkinsonism-Intellectual Disability Syndrome

Sources for Early-Onset Parkinsonism-Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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