MCID: WSM002
MIFTS: 24

Waisman Syndrome

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

Aliases & Classifications for Waisman Syndrome

MalaCards integrated aliases for Waisman Syndrome:

Name: Waisman Syndrome 57 59 75 13 40 73
Parkinsonism, Early-Onset, with Mental Retardation 57 75
Parkinsonism, Early Onset with Mental Retardation 29 6
Basal Ganglion Disorder with Mental Retardation 57 75
Wsmn 57 75
Bgmr 57 75
Wsn 57 75
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


Summaries for Waisman Syndrome

OMIM : 57 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 muscle rigidity, tremor and bradykinesia. An important gene associated with Waisman Syndrome is RAB39B (RAB39B, Member RAS Oncogene Family). Related phenotypes are macrocephaly and intellectual disability

UniProtKB/Swiss-Prot : 75 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:

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

Human phenotypes related to Waisman Syndrome:

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

UMLS symptoms related to Waisman Syndrome:


muscle rigidity, tremor, bradykinesia

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 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:

75
# 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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