WSMN
MCID: WSM002
MIFTS: 27

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 57 59 74 13 40 72
Parkinsonism, Early-Onset, with Mental Retardation 57 74
Parkinsonism, Early Onset with Mental Retardation 29 6
Basal Ganglion Disorder with Mental Retardation 57 74
Wsmn 57 74
Bgmr 57 74
Wsn 57 74
Early-Onset Parkinsonism-Intellectual Disability Syndrome 59
Basal Ganglion Disorder with Mental Retardation; Bgmr 57
Laxova-Opitz Syndrome 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
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:

32
waisman syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 34 G20
UMLS via Orphanet 73 C0796195
Orphanet 59 ORPHA2379
MedGen 42 C0796195
UMLS 72 C0796195

Summaries for Waisman Syndrome

OMIM : 57 Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, 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 : 74 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 12.0
2 early-onset parkinsonism-intellectual disability 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

Graphical network of the top 20 diseases related to Waisman Syndrome:



Diseases related to Waisman Syndrome

Symptoms & Phenotypes for Waisman Syndrome

Human phenotypes related to Waisman Syndrome:

32 59 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dementia 32 occasional (7.5%) HP:0000726
2 macrocephaly 59 32 Very frequent (99-80%) HP:0000256
3 frontal bossing 59 32 Very frequent (99-80%) HP:0002007
4 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
5 seizures 59 32 Frequent (79-30%) HP:0001250
6 cogwheel rigidity 59 32 Very frequent (99-80%) HP:0002396
7 dysarthria 32 HP:0001260
8 megalencephaly 32 HP:0001355
9 neurological speech impairment 59 Very frequent (99-80%)
10 global developmental delay 32 HP:0001263
11 dyskinesia 32 HP:0100660
12 abnormality of movement 59 Very frequent (99-80%)
13 strabismus 59 Frequent (79-30%)
14 rigidity 59 Very frequent (99-80%)
15 bradykinesia 32 HP:0002067
16 shuffling gait 32 HP:0002362
17 parkinsonism 32 HP:0001300
18 lewy bodies 32 HP:0100315
19 poor speech 32 HP:0002465
20 resting tremor 32 HP:0002322

Symptoms via clinical synopsis from OMIM:

57
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 29 RAB39B

Anatomical Context for Waisman Syndrome

Publications for Waisman Syndrome

Articles related to Waisman Syndrome:

# Title Authors PMID Year
1
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. 8 71
26399558 2015
2
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. 8 71
25434005 2014
3
An X-linked recessive basal ganglia disorder with mental retardation. 8 71
4025396 1985
4
Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. 38 8
1674730 1991
5
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene. 38
28851564 2017
6
An Operational In Situ Soil Moisture & Soil Temperature Monitoring Network for West Wales, UK: The WSMN Network. 38
28644377 2017
7
Numerous microRNPs in neuronal cells containing novel microRNAs. 38
12554860 2003
8
[Genetics in movement disorders]. 38
8277574 1993

Variations for Waisman Syndrome

ClinVar genetic disease variations for Waisman Syndrome:

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

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

74
# Symbol AA change Variation ID SNP ID
1 RAB39B p.Thr168Lys VAR_073264 rs587777874
2 RAB39B p.Gly192Arg VAR_078515 rs864309527

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
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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