Poirier-Bienvenu Neurodevelopmental Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Poirier-Bienvenu Neurodevelopmental Syndrome

MalaCards integrated aliases for Poirier-Bienvenu Neurodevelopmental Syndrome:

Name: Poirier-Bienvenu Neurodevelopmental Syndrome ⁵⁷ ⁷³ ²⁹ ⁶

Pobinds ⁵⁷ ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
seizures may be refractory
seizures may be responsive to levetiracetam treatment

HPO:

³¹

poirier-bienvenu neurodevelopmental syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618732

MeSH ⁴⁴ D065886

MedGen ⁴¹ C5231482 CN263151

SNOMED-CT via HPO ⁶⁸ 109504005 22810007 228156007 more

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Summaries for Poirier-Bienvenu Neurodevelopmental Syndrome

OMIM® : ⁵⁷ Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development (ID). The severity of neurologic impairment is highly variable: some patients may have refractory seizures and be bedridden with no meaningful speech, whereas others may have treatment-responsive seizures and achieve normal psychomotor development (summary by Li et al., 2019). (618732) (Updated 05-Mar-2021)

MalaCards based summary : Poirier-Bienvenu Neurodevelopmental Syndrome, is also known as pobinds. An important gene associated with Poirier-Bienvenu Neurodevelopmental Syndrome is CSNK2B (Casein Kinase 2 Beta). Affiliated tissues include tongue, and related phenotypes are intellectual disability and mandibular prognathia

UniProtKB/Swiss-Prot : ⁷³ Poirier-Bienvenu neurodevelopmental syndrome: An autosomal dominant neurodevelopmental disorder characterized by onset of seizures in infancy, developmental delay, impaired intellectual development, and poor or absent speech.

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Related Diseases for Poirier-Bienvenu Neurodevelopmental Syndrome

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Symptoms & Phenotypes for Poirier-Bienvenu Neurodevelopmental Syndrome

Human phenotypes related to Poirier-Bienvenu Neurodevelopmental Syndrome:

³¹ (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³¹	very rare (1%)	HP:0001249
2	mandibular prognathia ³¹	very rare (1%)	HP:0000303
3	smooth philtrum ³¹	very rare (1%)	HP:0000319
4	open mouth ³¹	very rare (1%)	HP:0000194
5	downturned corners of mouth ³¹	very rare (1%)	HP:0002714
6	protruding tongue ³¹	very rare (1%)	HP:0010808
7	generalized hypotonia ³¹	very rare (1%)	HP:0001290
8	delayed ability to walk ³¹	very rare (1%)	HP:0031936
9	myoclonic seizure ³¹	very rare (1%)	HP:0032794

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Head And Neck Mouth:
open mouth
protruding tongue
downturned corners of the mouth

Head And Neck Face:
prognathism
flat philtrum
dysmorphic features, variable, nonspecific (in some patients)

Head And Neck Teeth:
dental anomalies

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features
attention deficit

Neurologic Central Nervous System:
generalized seizures
complex partial seizures
poor or absent speech
focal seizures
cerebellar atrophy (1 patient)
more

Clinical features from OMIM®:

618732 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Poirier-Bienvenu Neurodevelopmental Syndrome

Search Clinical Trials , NIH Clinical Center for Poirier-Bienvenu Neurodevelopmental Syndrome

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Genetic Tests for Poirier-Bienvenu Neurodevelopmental Syndrome

Genetic tests related to Poirier-Bienvenu Neurodevelopmental Syndrome:

#	Genetic test	Affiliating Genes
1	Poirier-Bienvenu Neurodevelopmental Syndrome ²⁹	CSNK2B

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Anatomical Context for Poirier-Bienvenu Neurodevelopmental Syndrome

MalaCards organs/tissues related to Poirier-Bienvenu Neurodevelopmental Syndrome:

⁴⁰

Tongue

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Publications for Poirier-Bienvenu Neurodevelopmental Syndrome

Articles related to Poirier-Bienvenu Neurodevelopmental Syndrome:

#	Title	Authors	PMID	Year
1	Germline de novo variants in CSNK2B in Chinese patients with epilepsy. ⁵⁷ ⁶	Li J...Jiang Y	31784560	2019
2	Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. ⁶ ⁵⁷	Nakashima M...Matsumoto N	30655572	2019
3	Truncating mutation in CSNK2B and myoclonic epilepsy. ⁵⁷ ⁶	Sakaguchi Y...Takenouchi T	28762608	2017
4	CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy. ⁶ ⁵⁷	Poirier K...Bienvenu T	28585349	2017
5	Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth. ⁶¹	Selvam P...Atwal PS	33166063	2020

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Genes for Poirier-Bienvenu Neurodevelopmental Syndrome

Genes related to Poirier-Bienvenu Neurodevelopmental Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CSNK2B	Casein Kinase 2 Beta	Protein Coding	1343.65	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	28585349

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Variations for Poirier-Bienvenu Neurodevelopmental Syndrome

ClinVar genetic disease variations for Poirier-Bienvenu Neurodevelopmental Syndrome:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CSNK2B	NM_001320.7(CSNK2B):c.175+2T>G	SNV	Pathogenic	805768	rs1583605716	6:31635749-31635749	6:31667972-31667972
2	CSNK2B	NM_001320.6(CSNK2B):c.108dup (p.Thr37fs)	Duplication	Pathogenic	430724	rs1131692161	6:31635678-31635679	6:31667901-31667902
3	CSNK2B	NM_001320.7(CSNK2B):c.533_534insGT (p.Pro179fs)	Insertion	Pathogenic	805770	rs1583611843	6:31637261-31637262	6:31669484-31669485
4	CSNK2B	NM_001320.7(CSNK2B):c.621dup (p.Lys208fs)	Duplication	Pathogenic	805771	rs1583613268	6:31637675-31637676	6:31669898-31669899
5	CSNK2B	NM_001320.7(CSNK2B):c.265del (p.Thr90fs)	Deletion	Pathogenic	805772	rs1583608557	6:31636404-31636404	6:31668627-31668627
6	CSNK2B	NM_001320.7(CSNK2B):c.368-2A>G	SNV	Pathogenic	805773	rs1583611290	6:31637094-31637094	6:31669317-31669317
7	CSNK2B	NM_001320.7(CSNK2B):c.367+2T>C	SNV	Pathogenic	812520	rs1583610610	6:31636951-31636951	6:31669174-31669174
8	CSNK2B	NM_001320.7(CSNK2B):c.560T>C (p.Leu187Pro)	SNV	Pathogenic	982375		6:31637615-31637615	6:31669838-31669838
9	CSNK2B	NM_001320.7(CSNK2B):c.303C>G (p.Tyr101Ter)	SNV	Likely pathogenic	973336		6:31636885-31636885	6:31669108-31669108
10	CSNK2B	NM_001320.7(CSNK2B):c.554_555dup (p.Arg186fs)	Duplication	Uncertain significance	976427		6:31637280-31637281	6:31669503-31669504

UniProtKB/Swiss-Prot genetic disease variations for Poirier-Bienvenu Neurodevelopmental Syndrome:

⁷³

#	Symbol	AA change	Variation ID
1	CSNK2B	p.Arg111Pro	VAR_083652
2	CSNK2B	p.Cys137Phe	VAR_083653
3	CSNK2B	p.Cys137Gly	VAR_083654
4	CSNK2B	p.Leu187Arg	VAR_083655

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Expression for Poirier-Bienvenu Neurodevelopmental Syndrome

Search GEO for disease gene expression data for Poirier-Bienvenu Neurodevelopmental Syndrome.

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Pathways for Poirier-Bienvenu Neurodevelopmental Syndrome

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GO Terms for Poirier-Bienvenu Neurodevelopmental Syndrome

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Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS)

Aliases & Classifications for Poirier-Bienvenu Neurodevelopmental Syndrome

MalaCards integrated aliases for Poirier-Bienvenu Neurodevelopmental Syndrome:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Poirier-Bienvenu Neurodevelopmental Syndrome

Related Diseases for Poirier-Bienvenu Neurodevelopmental Syndrome

Symptoms & Phenotypes for Poirier-Bienvenu Neurodevelopmental Syndrome

Human phenotypes related to Poirier-Bienvenu Neurodevelopmental Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Poirier-Bienvenu Neurodevelopmental Syndrome

Genetic Tests for Poirier-Bienvenu Neurodevelopmental Syndrome

Genetic tests related to Poirier-Bienvenu Neurodevelopmental Syndrome:

Anatomical Context for Poirier-Bienvenu Neurodevelopmental Syndrome

MalaCards organs/tissues related to Poirier-Bienvenu Neurodevelopmental Syndrome:

Publications for Poirier-Bienvenu Neurodevelopmental Syndrome

Articles related to Poirier-Bienvenu Neurodevelopmental Syndrome:

Genes for Poirier-Bienvenu Neurodevelopmental Syndrome

Genes related to Poirier-Bienvenu Neurodevelopmental Syndrome (1 elite genes):

Variations for Poirier-Bienvenu Neurodevelopmental Syndrome

ClinVar genetic disease variations for Poirier-Bienvenu Neurodevelopmental Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Poirier-Bienvenu Neurodevelopmental Syndrome:

Expression for Poirier-Bienvenu Neurodevelopmental Syndrome

Pathways for Poirier-Bienvenu Neurodevelopmental Syndrome

GO Terms for Poirier-Bienvenu Neurodevelopmental Syndrome

Sources for Poirier-Bienvenu Neurodevelopmental Syndrome