WSMN
MCID: WSM002
MIFTS: 32

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 12 20 58 72 13 15 70
Early-Onset Parkinsonism-Intellectual Disability Syndrome 12 20 58 29 6
Laxova-Opitz Syndrome 12 20 58
Bgmr 57 20 72
Wsn 57 20 72
Parkinsonism, Early-Onset, with Mental Retardation 57 72
Basal Ganglion Disorder with Mental Retardation 57 72
Wsmn 57 72
Basal Ganglion Disorder with Mental Retardation; Bgmr 57
Laxova Brown Hogan Syndrome 20
Syndrome, Waisman 39

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
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:

31
waisman syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111781
OMIM® 57 311510
OMIM Phenotypic Series 57 PS309510
ICD10 via Orphanet 33 G20
UMLS via Orphanet 71 C0796195
Orphanet 58 ORPHA2379
MedGen 41 C0796195
UMLS 70 C0796195

Summaries for Waisman Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2379 Definition Early-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.

MalaCards based summary : Waisman Syndrome, also known as early-onset parkinsonism-intellectual disability syndrome, is related to white sponge nevus 1 and pettigrew 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 macrocephaly and intellectual disability

Disease Ontology : 12 A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has material basis in hemizygous or homozygous mutation in RAB39B on chromosome Xq28.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Waisman syndrome: A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease.

Related Diseases for Waisman Syndrome

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
4 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
5 abnormality of movement 58 31 hallmark (90%) Very frequent (99-80%) HP:0100022
6 cogwheel rigidity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002396
7 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
8 seizure 31 frequent (33%) HP:0001250
9 dementia 31 occasional (7.5%) HP:0000726
10 seizures 58 Frequent (79-30%)
11 megalencephaly 31 HP:0001355
12 dysarthria 31 HP:0001260
13 global developmental delay 31 HP:0001263
14 dyskinesia 31 HP:0100660
15 rigidity 58 Very frequent (99-80%)
16 poor speech 31 HP:0002465
17 parkinsonism 31 HP:0001300
18 bradykinesia 31 HP:0002067
19 shuffling gait 31 HP:0002362
20 resting tremor 31 HP:0002322
21 lewy bodies 31 HP:0100315

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

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

Clinical features from OMIM®:

311510 (Updated 20-May-2021)

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 Early-Onset Parkinsonism-Intellectual Disability Syndrome 29 RAB39B

Anatomical Context for Waisman Syndrome

Publications for Waisman Syndrome

Articles related to Waisman Syndrome:

# Title Authors PMID Year
1
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. 57 6
25434005 2014
2
An X-linked recessive basal ganglia disorder with mental retardation. 6 57
4025396 1985
3
Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. 57 61
1674730 1991
4
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. 57
26399558 2015
5
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene. 61
28851564 2017
6
Numerous microRNPs in neuronal cells containing novel microRNAs. 61
12554860 2003
7
[Genetics in movement disorders]. 61
8277574 1993

Variations for Waisman Syndrome

ClinVar genetic disease variations for Waisman Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB39B NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) SNV Pathogenic 156532 rs587777874 GRCh37: X:154490227-154490227
GRCh38: X:155260942-155260942
2 overlap with 2 genes NC_000023.11:g.(155246216_?)_(?_155288781)del Deletion Pathogenic 157665 GRCh37: X:154474499-154518072
GRCh38: X:155246216-155288781
3 RAB39B NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) SNV Pathogenic 218362 rs864309527 GRCh37: X:154490156-154490156
GRCh38: X:155260871-155260871

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

72
# 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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