WSMN
MCID: WSM002
MIFTS: 32

Waisman Syndrome (WSMN) malady

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

Aliases & Classifications for Waisman Syndrome

Aliases & Descriptions for Waisman Syndrome:

Name: Waisman Syndrome 54 50 24 56 66 13 69
Parkinsonism, Early-Onset, with Mental Retardation 66 29
Bgmr 50 66
Wsn 50 66
X-Linked Recessive Basal Ganglia Disorder with Mental Retardation 50
Early-Onset Parkinsonism-Intellectual Disability Syndrome 56
Parkinsonism, Early Onset, with Mental Retardation 24
Parkinsonism, Early Onset with Mental Retardation 50
Basal Ganglion Disorder with Mental Retardation 66
Basal Ganglia Disorder with Mental Retardation 50
Laxova Brown Hogan Syndrome 50
Laxova-Opitz Syndrome 56
Wsmn 66

Characteristics:

Orphanet epidemiological data:

56

HPO:

32
waisman syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 311510
Orphanet 56 ORPHA2379
UMLS via Orphanet 70 C0796195
ICD10 via Orphanet 34 G20
MedGen 40 C0796195

Summaries for Waisman Syndrome

OMIM : 54 Waisman syndrome is an X-linked recessive neurologic disorder characterized by delayed psychomotor development,... (311510) more...

MalaCards based summary : Waisman Syndrome, also known as parkinsonism, early-onset, with mental retardation, is related to white sponge nevus 1 and mental retardation, x-linked syndromic 5, and has symptoms including seizures, cogwheel rigidity and macrocephaly. An important gene associated with Waisman Syndrome is RAB39B (RAB39B, Member RAS Oncogene Family). The drugs Atenolol and Bisoprolol have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 66 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:

id Related Disease Score Top Affiliating Genes
1 white sponge nevus 1 11.5
2 mental retardation, x-linked syndromic 5 10.9
3 autism x-linked 5 9.6 GABRQ RAB39B WSN

Symptoms & Phenotypes for Waisman Syndrome

Symptoms by clinical synopsis from OMIM:

311510

Clinical features from OMIM:

311510

Human phenotypes related to Waisman Syndrome:

56 32 (show all 19)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 cogwheel rigidity 56 32 Very frequent (99-80%) HP:0002396
3 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
4 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
5 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
6 neurological speech impairment 56 32 Very frequent (99-80%) HP:0002167
7 abnormality of movement 56 32 Very frequent (99-80%) HP:0100022
8 strabismus 56 32 Frequent (79-30%) HP:0000486
9 bradykinesia 32 HP:0002067
10 dysarthria 32 HP:0001260
11 megalencephaly 32 HP:0001355
12 global developmental delay 32 HP:0001263
13 dyskinesia 32 HP:0100660
14 rigidity 56 Very frequent (99-80%)
15 dementia 32 HP:0000726
16 parkinsonism 32 HP:0001300
17 poor speech 32 HP:0002465
18 shuffling gait 32 HP:0002362
19 resting tremor 32 HP:0002322

UMLS symptoms related to Waisman Syndrome:


muscle rigidity, tremor, bradykinesia

Drugs & Therapeutics for Waisman Syndrome

Drugs for Waisman Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 86)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atenolol Approved Phase 4 29122-68-7 2249
2
Bisoprolol Approved Phase 4 66722-44-9 2405
3 Adrenergic Agents Phase 4
4 Adrenergic Antagonists Phase 4
5 Adrenergic beta-1 Receptor Antagonists Phase 4
6 Adrenergic beta-Antagonists Phase 4
7 Anti-Arrhythmia Agents Phase 4
8 Antihypertensive Agents Phase 4
9 Autonomic Agents Phase 4
10 Neurotransmitter Agents Phase 4
11 Peripheral Nervous System Agents Phase 4
12 Sympatholytics Phase 4
13
Alfentanil Approved, Illicit 71195-58-9 51263
14
Aripiprazole Approved, Investigational 129722-12-9 60795
15
Ceftazidime Approved 78439-06-2 5481173
16
Cidofovir Approved 113852-37-2 60613
17
Ciprofloxacin Approved, Investigational 85721-33-1 2764
18
Clozapine Approved 5786-21-0 2818
19
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
20
Diazepam Approved, Illicit, Vet_approved 439-14-5 3016
21
Epinephrine Approved, Vet_approved 51-43-4 5816
22
Fosphenytoin Approved 93390-81-9 56339
23
Haloperidol Approved 52-86-8 3559
24
Heparin Approved, Investigational 9005-49-6 772 46507594
25
Hydromorphone Approved, Illicit 466-99-9 5284570
26
Meropenem Approved, Investigational 119478-56-7 64778 441130
27
Methylprednisolone Approved, Vet_approved 83-43-2 6741
28
Midazolam Approved, Illicit 59467-70-8 4192
29
Molindone Approved 7416-34-4 23897
30
Morphine Approved, Investigational 57-27-2 5288826
31
Nicardipine Approved 55985-32-5 4474
32
Olanzapine Approved, Investigational 132539-06-1 4585
33
Oseltamivir Approved 204255-11-8, 196618-13-0 65028
34
Pentobarbital Approved, Vet_approved 76-74-4 4737
35
Prednisolone Approved, Vet_approved 50-24-8 5755
36
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
37
Risperidone Approved, Investigational 106266-06-2 5073
38
Timolol Approved 26839-75-8 33624 5478
39
Tobramycin Approved, Investigational 32986-56-4 5496 36294
40
Topiramate Approved 97240-79-4 5284627
41
Valproic Acid Approved, Investigational 99-66-1 3121
42
Warfarin Approved 81-81-2 6691 54678486
43
Ziprasidone Approved 146939-27-7 60854
44 Analgesics
45 Analgesics, Opioid
46 Anesthetics
47 Anti-Anxiety Agents
48 Anti-Bacterial Agents
49 Anticoagulants
50 Anticonvulsants

Interventional clinical trials:


id Name Status NCT ID Phase
1 Hemodynamic Changes of Patients Receiving Atenolol/Bisoprolol Completed NCT01939509 Phase 4
2 Continuous Monitoring of Lung Ventilation Completed NCT00810186
3 Continuous Monitoring of the Lungs Ventilation Dynamics During Mechanical Ventilation Completed NCT00702169
4 Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care Recruiting NCT01431326
5 Natural History of Amyloid Deposition in Adults With Down Syndrome Active, not recruiting NCT01303133
6 Prevalence of Amyloidosis and Carpal Tunnel Not yet recruiting NCT02152644

Search NIH Clinical Center for Waisman Syndrome

Genetic Tests for Waisman Syndrome

Genetic tests related to Waisman Syndrome:

id Genetic test Affiliating Genes
1 Parkinsonism, Early Onset with Mental Retardation 29
2 Waisman Syndrome 24 RAB39B

Anatomical Context for Waisman Syndrome

Publications for Waisman Syndrome

Articles related to Waisman Syndrome:

id 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:

66
id Symbol AA change Variation ID SNP ID
1 RAB39B p.Thr168Lys VAR_073264 rs587777874
2 RAB39B p.Gly192Arg VAR_078515

ClinVar genetic disease variations for Waisman Syndrome:

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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