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

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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

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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 tremor, bradykinesia and muscle rigidity. An important gene associated with Waisman Syndrome is RAB39B (RAB39B, Member RAS Oncogene Family). Related phenotypes are macrocephaly and frontal bossing

UniProtKB/Swiss-Prot : ⁷⁵ Waisman syndrome: A neurologic disorder characterized by delayed psychomotor development, intellectual disability, and early-onset Parkinson disease.

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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	11.9
2	early-onset parkinsonism-intellectual disability syndrome	11.6
3	pettigrew syndrome	11.1

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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 20)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macrocephaly ⁵⁹ ³²		Very frequent (99-80%)	HP:0000256
2	frontal bossing ⁵⁹ ³²		Very frequent (99-80%)	HP:0002007
3	intellectual disability ⁵⁹ ³²		Very frequent (99-80%)	HP:0001249
4	seizures ⁵⁹ ³²		Frequent (79-30%)	HP:0001250
5	cogwheel rigidity ⁵⁹ ³²		Very frequent (99-80%)	HP:0002396
6	dysarthria ³²			HP:0001260
7	megalencephaly ³²			HP:0001355
8	neurological speech impairment ⁵⁹		Very frequent (99-80%)
9	global developmental delay ³²			HP:0001263
10	dyskinesia ³²			HP:0100660
11	abnormality of movement ⁵⁹		Very frequent (99-80%)
12	strabismus ⁵⁹		Frequent (79-30%)
13	rigidity ⁵⁹		Very frequent (99-80%)
14	dementia ³²	occasional (7.5%)		HP:0000726
15	bradykinesia ³²			HP:0002067
16	shuffling gait ³²			HP:0002362
17	parkinsonism ³²			HP:0001300
18	lewy bodies ³²			HP:0100315
19	poor speech ³²			HP:0002465
20	resting tremor ³²			HP:0002322

UMLS symptoms related to Waisman Syndrome:

tremor, bradykinesia, muscle rigidity

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Drugs & Therapeutics for Waisman Syndrome

Search Clinical Trials , NIH Clinical Center for Waisman Syndrome

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Genetic Tests for Waisman Syndrome

Genetic tests related to Waisman Syndrome:

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

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Anatomical Context for Waisman Syndrome

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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

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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	1736.31	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

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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

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Expression for Waisman Syndrome

Search GEO for disease gene expression data for Waisman Syndrome.

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Pathways for Waisman Syndrome

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GO Terms for Waisman Syndrome

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Sources for Waisman Syndrome

¹ BioSystems

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⁴¹ MalaCards

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⁴⁴ MeSH

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⁵⁹ Orphanet

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Waisman Syndrome (WSMN)

Aliases & Classifications for Waisman Syndrome

MalaCards integrated aliases for Waisman Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Waisman Syndrome

Related Diseases for Waisman Syndrome

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

Symptoms & Phenotypes for Waisman Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Waisman Syndrome:

UMLS symptoms related to Waisman Syndrome:

Drugs & Therapeutics for Waisman Syndrome

Genetic Tests for Waisman Syndrome

Genetic tests related to Waisman Syndrome:

Anatomical Context for Waisman Syndrome

Publications for Waisman Syndrome

Articles related to Waisman Syndrome:

Genes for Waisman Syndrome

Genes related to Waisman Syndrome (1 elite genes):

Variations for Waisman Syndrome

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

ClinVar genetic disease variations for Waisman Syndrome:

Expression for Waisman Syndrome

Pathways for Waisman Syndrome

GO Terms for Waisman Syndrome

Sources for Waisman Syndrome