Waisman Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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

early-onset parkinsonism-intellectual disability syndrome
Inheritance: X-linked recessive;

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Extrapyramidal and movement disorders

Parkinson disease

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 311510

Orphanet ⁵⁹ ORPHA2379

UMLS via Orphanet ⁷⁴ C0796195

ICD10 via Orphanet ³⁴ G20

MedGen ⁴² C0796195

MeSH ⁴⁴ D008607 D010300

UMLS ⁷³ C0796195

Sources

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.

Sources

Related Diseases for Waisman Syndrome

Diseases related to Waisman Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	white sponge nevus 1	11.7
2	early-onset parkinsonism-intellectual disability syndrome	11.4
3	pettigrew syndrome	11.0

Sources

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

Sources

Drugs & Therapeutics for Waisman Syndrome

Search Clinical Trials , NIH Clinical Center for Waisman Syndrome

Sources

Genetic Tests for Waisman Syndrome

Genetic tests related to Waisman Syndrome:

#	Genetic test	Affiliating Genes
1	Parkinsonism, Early Onset with Mental Retardation ²⁹	RAB39B

Sources

Anatomical Context for Waisman Syndrome

Sources

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 )	Gregg R.G....Laxova R.	1991

Sources

Genes for Waisman Syndrome

Genes related to Waisman Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	1736.55	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Gene name Variants (show sections)	25434005 4025396 26399558

Sources

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

Sources

Expression for Waisman Syndrome

Search GEO for disease gene expression data for Waisman Syndrome.

Sources

Pathways for Waisman Syndrome

Sources

GO Terms for Waisman Syndrome

Sources

Sources for Waisman Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia