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 ¹² ²⁰ ⁵⁸ ⁷² ¹³ ¹⁵ ⁷⁰

Early-Onset Parkinsonism-Intellectual Disability Syndrome ¹² ²⁰ ⁵⁸ ²⁹ ⁶

Laxova-Opitz Syndrome ¹² ²⁰ ⁵⁸

Bgmr ⁵⁷ ²⁰ ⁷²

Wsn ⁵⁷ ²⁰ ⁷²

Parkinsonism, Early-Onset, with Mental Retardation ⁵⁷ ⁷²

Basal Ganglion Disorder with Mental Retardation ⁵⁷ ⁷²

Wsmn ⁵⁷ ⁷²

Basal Ganglion Disorder with Mental Retardation; Bgmr ⁵⁷

Laxova Brown Hogan Syndrome ²⁰

Syndrome, Waisman ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM®:

⁵⁷ (Updated 20-May-2021)

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:

Disease Ontology ¹² DOID:0111781

OMIM® ⁵⁷ 311510

OMIM Phenotypic Series ⁵⁷ PS309510

MeSH ⁴⁴ D008607 D010300

ICD10 via Orphanet ³³ G20

UMLS via Orphanet ⁷¹ C0796195

Orphanet ⁵⁸ ORPHA2379

MedGen ⁴¹ C0796195

UMLS ⁷⁰ C0796195

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Summaries for Waisman Syndrome

GARD : ²⁰ 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.

MalaCards based summary : Waisman Syndrome, also known as early-onset parkinsonism-intellectual disability syndrome, 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 intellectual disability

Disease Ontology : ¹² A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has material basis in hemizygous or homozygous mutation in RAB39B on chromosome Xq28.

OMIM® : ⁵⁷ 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : ⁷² 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 25)

#	Related Disease	Score	Top Affiliating Genes
1	white sponge nevus 1	11.4
2	pettigrew syndrome	11.0
3	influenza	10.5
4	avian influenza	10.1
5	early-onset parkinson's disease	10.1	RAB39B PRODH
6	gene duplication disease	10.1	RAB39B HCFC1
7	lubs x-linked mental retardation syndrome	10.1	RAB39B HCFC1
8	swine influenza	10.1
9	pulmonary edema	10.1
10	syndromic x-linked intellectual disability	10.1	SLC9A7 RAB39B
11	parkinsonism	10.0
12	tic disorder	10.0	PRODH MIR24-1
13	mental depression	10.0	PRODH MIR24-1
14	cystinuria	10.0	SLC9A7 PRODH
15	chromosomal duplication syndrome	9.9	PRODH MIR24-1
16	respiratory failure	9.9
17	newcastle disease	9.9
18	vaccinia	9.9
19	encephalitis	9.9
20	chromosomal deletion syndrome	9.9	PRODH MIR24-1
21	physical disorder	9.8	PRODH MIR24-1
22	non-syndromic x-linked intellectual disability	9.8	SLC9A7 RAB39B HCFC1
23	x-linked recessive disease	9.8	PRODH MIR24-1
24	x-linked monogenic disease	9.7	PRODH MIR24-1
25	disease of mental health	9.3	SLC9A7 RAB39B PRODH MIR24-1 HCFC1

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 21)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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 (Updated 20-May-2021)

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	Early-Onset Parkinsonism-Intellectual Disability Syndrome 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. ⁵⁷ ⁶	Wilson GR...Lockhart PJ	25434005	2014
2	An X-linked recessive basal ganglia disorder with mental retardation. ⁶ ⁵⁷	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. ⁵⁷ ⁶¹	Gregg RG...Laxova R	1674730	1991
4	The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease. ⁵⁷	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	Numerous microRNPs in neuronal cells containing novel microRNAs. ⁶¹	Dostie J...Dreyfuss G	12554860	2003
7	[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	PubMed IDs
1	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	1681.62	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	4025396 25434005
2	PRODH	Proline Dehydrogenase 1	Protein Coding	7.76	DISEASES inferred ¹⁵ ¹⁵
3	KRBOX4	KRAB Box Domain Containing 4	Protein Coding	7.32	DISEASES inferred ¹⁵
4	HCFC1	Host Cell Factor C1	Protein Coding	6.71	DISEASES inferred ¹⁵
5	CHST7	Carbohydrate Sulfotransferase 7	Protein Coding	6.57	DISEASES inferred ¹⁵
6	SNORD52	Small Nucleolar RNA, C/D Box 52	RNA Gene	6.1	DISEASES inferred ¹⁵
7	MIR24-1	MicroRNA 24-1	RNA Gene	5.94	DISEASES inferred ¹⁵
8	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	5.85	DISEASES inferred ¹⁵
9	SLC9A7	Solute Carrier Family 9 Member A7	Protein Coding	5.82	DISEASES inferred ¹⁵

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Variations for Waisman Syndrome

ClinVar genetic disease variations for Waisman Syndrome:

⁶

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

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

⁷²

#	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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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