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 ⁵⁶ ⁵² ⁵⁸ ⁷³ ¹³ ³⁹ ⁷¹

Bgmr ⁵⁶ ⁵² ⁷³

Wsn ⁵⁶ ⁵² ⁷³

Early-Onset Parkinsonism-Intellectual Disability Syndrome ⁵² ⁵⁸

Parkinsonism, Early-Onset, with Mental Retardation ⁵⁶ ⁷³

Parkinsonism, Early Onset with Mental Retardation ²⁹ ⁶

Basal Ganglion Disorder with Mental Retardation ⁵⁶ ⁷³

Laxova-Opitz Syndrome ⁵² ⁵⁸

Wsmn ⁵⁶ ⁷³

X-Linked Recessive Basal Ganglia Disorder with Mental Retardation ⁵²

Basal Ganglion Disorder with Mental Retardation; Bgmr ⁵⁶

Basal Ganglia Disorder with Mental Retardation ⁵²

Laxova Brown Hogan Syndrome ⁵²

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Extrapyramidal and movement disorders

Parkinson disease

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM ⁵⁶ 311510

OMIM Phenotypic Series ⁵⁶ PS309510

MeSH ⁴³ D008607 D010300

ICD10 via Orphanet ³³ G20

UMLS via Orphanet ⁷² C0796195

Orphanet ⁵⁸ ORPHA2379

MedGen ⁴¹ C0796195

UMLS ⁷¹ C0796195

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Summaries for Waisman Syndrome

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2379 Definition Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures . It has been described in three generations of one family. Transmission is X-linked , and the gene is located on chromosomal region Xq27.3-qter. Visit the Orphanet disease page for more resources.

MalaCards based summary : Waisman Syndrome, also known as bgmr, is related to white sponge nevus 1 and pettigrew 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

OMIM : ⁵⁶ Waisman syndrome is an X-linked neurologic disorder characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease (summary by Wilson et al., 2014). (311510)

UniProtKB/Swiss-Prot : ⁷³ 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:

(show all 11)

#	Related Disease	Score
1	white sponge nevus 1	12.0
2	pettigrew syndrome	11.3
3	influenza	10.5
4	newcastle disease	10.2
5	vaccinia	10.2
6	avian influenza	10.2
7	encephalitis	10.2
8	heavy chain deposition disease	10.2
9	strabismus	10.1
10	mechanical strabismus	10.1
11	tremor	10.1

Graphical network of the top 20 diseases related to Waisman Syndrome:

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Symptoms & Phenotypes for Waisman Syndrome

Human phenotypes related to Waisman Syndrome:

⁵⁸ ³¹ (show all 20)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	macrocephaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000256
2	frontal bossing ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002007
3	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
4	neurological speech impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002167
5	abnormality of movement ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100022
6	cogwheel rigidity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002396
7	seizures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001250
8	strabismus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000486
9	dementia ³¹	occasional (7.5%)		HP:0000726
10	megalencephaly ³¹			HP:0001355
11	dysarthria ³¹			HP:0001260
12	global developmental delay ³¹			HP:0001263
13	dyskinesia ³¹			HP:0100660
14	rigidity ⁵⁸		Very frequent (99-80%)
15	poor speech ³¹			HP:0002465
16	bradykinesia ³¹			HP:0002067
17	shuffling gait ³¹			HP:0002362
18	parkinsonism ³¹			HP:0001300
19	lewy bodies ³¹			HP:0100315
20	resting tremor ³¹			HP:0002322

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
dysarthria
tremor
dyskinesia
rigidity
poor speech
more

Head And Neck Face:
frontal bossing

Clinical features from OMIM:

311510

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	PMID	Year
1	Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. ⁵⁶ ⁶	Wilson GR...Lockhart PJ	25434005	2014
2	An X-linked recessive basal ganglia disorder with mental retardation. ⁵⁶ ⁶	Laxova R...Opitz JM	4025396	1985
3	Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. ⁶¹ ⁵⁶	Gregg RG...Laxova R	1674730	1991
4	The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. ⁵⁶	Mata IF...Zabetian CP	26399558	2015
5	X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene. ⁶¹	Ciammola A...Bonati MT	28851564	2017
6	An Operational In Situ Soil Moisture & Soil Temperature Monitoring Network for West Wales, UK: The WSMN Network. ⁶¹	Petropoulos GP...McCalmont JP	28644377	2017
7	Numerous microRNPs in neuronal cells containing novel microRNAs. ⁶¹	Dostie J...Dreyfuss G	12554860	2003
8	[Genetics in movement disorders]. ⁶¹	Sakoda S	8277574	1993

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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	1676.21	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Gene name Variants (show sections)	25434005 4025396

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Variations for Waisman Syndrome

ClinVar genetic disease variations for Waisman Syndrome:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	RAB39B	NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys)	SNV	Pathogenic	156532	rs587777874	X:154490227-154490227	X:155260942-155260942
2	RAB39B	NC_000023.11:g.(155246216_?)_(?_155288781)del	deletion	Pathogenic	157665		X:154474499-154518072	X:155246216-155288781
3	RAB39B	NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)	SNV	Pathogenic	218362	rs864309527	X:154490156-154490156	X:155260871-155260871

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	RAB39B	p.Thr168Lys	VAR_073264	rs587777874
2	RAB39B	p.Gly192Arg	VAR_078515	rs864309527

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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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⁷⁴ 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:

Graphical network of the top 20 diseases related to Waisman Syndrome:

Symptoms & Phenotypes for Waisman Syndrome

Human phenotypes related to Waisman Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

ClinVar genetic disease variations for Waisman Syndrome:

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

Expression for Waisman Syndrome

Pathways for Waisman Syndrome

GO Terms for Waisman Syndrome

Sources for Waisman Syndrome