MCID: ERL033
MIFTS: 16

Early-Onset Parkinsonism-Intellectual Disability Syndrome

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 54
Waisman Syndrome 54 74
X-Linked Recessive Basal Ganglia Disorder with Mental Retardation 54
Basal Ganglia Disorder with Mental Retardation 54
Laxova Brown Hogan Syndrome 54
Laxova-Opitz Syndrome 54
Bgmr 54
Wsn 54

Classifications:



Summaries for Early-Onset Parkinsonism-Intellectual Disability Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2379Disease definitionEarly-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:

# Related Disease Score Top Affiliating Genes
1 white sponge nevus 1 11.9
2 waisman syndrome 11.6
3 pettigrew syndrome 11.2
4 influenza 10.2

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

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

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 hallmark (90%) HP:0000256
2 frontal bossing 33 hallmark (90%) HP:0002007
3 intellectual disability 33 hallmark (90%) HP:0001249
4 neurological speech impairment 33 hallmark (90%) HP:0002167
5 abnormality of movement 33 hallmark (90%) HP:0100022
6 cogwheel rigidity 33 hallmark (90%) HP:0002396
7 seizures 33 frequent (33%) HP:0001250
8 strabismus 33 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 Year
1
Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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