MCID: WSM002
MIFTS: 25

Waisman Syndrome

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

Aliases & Classifications for Waisman Syndrome

MalaCards integrated aliases for Waisman Syndrome:

Name: Waisman Syndrome 53 55 71 13 69
Parkinsonism, Early-Onset, with Mental Retardation 53 71
Basal Ganglion Disorder with Mental Retardation 53 71
Wsmn 53 71
Bgmr 53 71
Wsn 53 71
Early-Onset Parkinsonism-Intellectual Disability Syndrome 55
Basal Ganglion Disorder with Mental Retardation; Bgmr 53
Parkinsonism, Early Onset with Mental Retardation 28
Laxova-Opitz Syndrome 55

Characteristics:

Orphanet epidemiological data:

55

OMIM:

53
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: 55  
Rare neurological diseases


Summaries for Waisman Syndrome

OMIM : 53 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 seizures, cogwheel rigidity and macrocephaly. An important gene associated with Waisman Syndrome is RAB39B (RAB39B, Member RAS Oncogene Family).

UniProtKB/Swiss-Prot : 71 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 11.7
2 early-onset parkinsonism-intellectual disability syndrome 11.4
3 pettigrew syndrome 11.0

Symptoms & Phenotypes for Waisman Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
tremor
bradykinesia
dysarthria
dyskinesia
rigidity
more
Head And Neck Face:
frontal bossing

Head And Neck Head:
macrocephaly


Clinical features from OMIM:

311510

Human phenotypes related to Waisman Syndrome:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 Frequent (79-30%) HP:0001250
2 cogwheel rigidity 55 31 Very frequent (99-80%) HP:0002396
3 macrocephaly 55 31 Very frequent (99-80%) HP:0000256
4 frontal bossing 55 31 Very frequent (99-80%) HP:0002007
5 intellectual disability 55 31 Very frequent (99-80%) HP:0001249
6 bradykinesia 31 HP:0002067
7 dysarthria 31 HP:0001260
8 megalencephaly 31 HP:0001355
9 neurological speech impairment 55 Very frequent (99-80%)
10 global developmental delay 31 HP:0001263
11 dyskinesia 31 HP:0100660
12 abnormality of movement 55 Very frequent (99-80%)
13 strabismus 55 Frequent (79-30%)
14 rigidity 55 Very frequent (99-80%)
15 dementia 31 occasional (7.5%) HP:0000726
16 parkinsonism 31 HP:0001300
17 poor speech 31 HP:0002465
18 shuffling gait 31 HP:0002362
19 resting tremor 31 HP:0002322

UMLS symptoms related to Waisman Syndrome:


bradykinesia, tremor, 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 28

Anatomical Context for Waisman Syndrome

Publications for Waisman Syndrome

Articles related to Waisman 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 Waisman Syndrome

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

71
# 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 NC_000023.11: g.(155246216_?)_(?_155288781)del deletion Pathogenic GRCh37 Chromosome X, 154474499: 154518072
3 RAB39B NM_171998.3(RAB39B): c.574G> A (p.Gly192Arg) single nucleotide variant Pathogenic rs864309527 GRCh38 Chromosome X, 155260871: 155260871

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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