WSMN
MCID: WSM002
MIFTS: 26

Waisman Syndrome (WSMN)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Waisman Syndrome

MalaCards integrated aliases for Waisman Syndrome:

Name: Waisman Syndrome 58 60 76 41 74
Parkinsonism, Early-Onset, with Mental Retardation 58 76
Parkinsonism, Early Onset with Mental Retardation 30 6
Basal Ganglion Disorder with Mental Retardation 58 76
Wsmn 58 76
Bgmr 58 76
Wsn 58 76
Early-Onset Parkinsonism-Intellectual Disability Syndrome 60
Basal Ganglion Disorder with Mental Retardation; Bgmr 58
Laxova-Opitz Syndrome 60

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
two families have been reported (last curated february 2016)
variable age of onset of parkinsonism (first decade to adulthood)


HPO:

33
waisman syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Waisman Syndrome

OMIM : 58 Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease (summary by Wilson et al., 2014). (311510)

MalaCards based summary : Waisman Syndrome, also known as parkinsonism, early-onset, with mental retardation, is related to white sponge nevus 1 and early-onset parkinsonism-intellectual disability syndrome, and has symptoms including tremor, bradykinesia and muscle rigidity. An important gene associated with Waisman Syndrome is RAB39B (RAB39B, Member RAS Oncogene Family). Related phenotypes are dementia and macrocephaly

UniProtKB/Swiss-Prot : 76 Waisman syndrome: A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease.

Related Diseases for Waisman Syndrome

Diseases related to Waisman 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 early-onset parkinsonism-intellectual disability syndrome 11.6
3 pettigrew syndrome 11.2
4 influenza 10.2

Symptoms & Phenotypes for Waisman Syndrome

Human phenotypes related to Waisman Syndrome:

33 60 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dementia 33 occasional (7.5%) HP:0000726
2 macrocephaly 60 33 Very frequent (99-80%) HP:0000256
3 frontal bossing 60 33 Very frequent (99-80%) HP:0002007
4 intellectual disability 60 33 Very frequent (99-80%) HP:0001249
5 seizures 60 33 Frequent (79-30%) HP:0001250
6 cogwheel rigidity 60 33 Very frequent (99-80%) HP:0002396
7 dysarthria 33 HP:0001260
8 megalencephaly 33 HP:0001355
9 neurological speech impairment 60 Very frequent (99-80%)
10 global developmental delay 33 HP:0001263
11 dyskinesia 33 HP:0100660
12 abnormality of movement 60 Very frequent (99-80%)
13 strabismus 60 Frequent (79-30%)
14 rigidity 60 Very frequent (99-80%)
15 bradykinesia 33 HP:0002067
16 shuffling gait 33 HP:0002362
17 parkinsonism 33 HP:0001300
18 lewy bodies 33 HP:0100315
19 poor speech 33 HP:0002465
20 resting tremor 33 HP:0002322

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
dysarthria
tremor
dyskinesia
rigidity
bradykinesia
more
Head And Neck Face:
frontal bossing

Clinical features from OMIM:

311510

UMLS symptoms related to Waisman Syndrome:


tremor, bradykinesia, muscle rigidity

Drugs & Therapeutics for Waisman Syndrome

Search Clinical Trials , NIH Clinical Center for Waisman Syndrome

Genetic Tests for Waisman Syndrome

Genetic tests related to Waisman Syndrome:

# Genetic test Affiliating Genes
1 Parkinsonism, Early Onset with Mental Retardation 30 RAB39B

Anatomical Context for Waisman Syndrome

Publications for Waisman Syndrome

Articles related to Waisman Syndrome:

# Title Authors Year
1
An Operational In Situ Soil Moisture & Soil Temperature Monitoring Network for West Wales, UK: The WSMN Network. ( 28644377 )
2017
2
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. ( 26399558 )
2015
3
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. ( 25434005 )
2014
4
Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. ( 1674730 )
1991
5
An X-linked recessive basal ganglia disorder with mental retardation. ( 4025396 )
1985

Variations for Waisman Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Waisman Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 RAB39B p.Thr168Lys VAR_073264 rs587777874
2 RAB39B p.Gly192Arg VAR_078515 rs864309527

ClinVar genetic disease variations for Waisman Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB39B NM_171998.3(RAB39B): c.503C> A (p.Thr168Lys) single nucleotide variant Pathogenic rs587777874 GRCh38 Chromosome X, 155260942: 155260942
2 RAB39B NM_171998.3(RAB39B): c.503C> A (p.Thr168Lys) single nucleotide variant Pathogenic rs587777874 GRCh37 Chromosome X, 154490227: 154490227
3 RAB39B NC_000023.11: g.(155246216_?)_(?_155288781)del deletion Pathogenic GRCh37 Chromosome X, 154474499: 154518072
4 RAB39B NC_000023.11: g.(155246216_?)_(?_155288781)del deletion Pathogenic GRCh38 Chromosome X, 155246216: 155288781
5 RAB39B NM_171998.3(RAB39B): c.574G> A (p.Gly192Arg) single nucleotide variant Pathogenic rs864309527 GRCh38 Chromosome X, 155260871: 155260871
6 RAB39B NM_171998.3(RAB39B): c.574G> A (p.Gly192Arg) single nucleotide variant Pathogenic rs864309527 GRCh37 Chromosome X, 154490156: 154490156

Expression for Waisman Syndrome

Search GEO for disease gene expression data for Waisman Syndrome.

Pathways for Waisman Syndrome

GO Terms for Waisman Syndrome

Sources for Waisman 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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