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

Sources

Aliases & Classifications for Poirier-Bienvenu Neurodevelopmental Syndrome

MalaCards integrated aliases for Poirier-Bienvenu Neurodevelopmental Syndrome:

Name: Poirier-Bienvenu Neurodevelopmental Syndrome ⁵⁶ ⁷³ ⁶

Pobinds ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

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 ⁵⁶ 618732

MeSH ⁴³ D065886

MedGen ⁴¹ CN263151

SNOMED-CT via HPO ⁶⁸ 109504005 22810007 228156007 more

Sources

Summaries for Poirier-Bienvenu Neurodevelopmental Syndrome

OMIM : ⁵⁶ 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)

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.

Sources

Related Diseases for Poirier-Bienvenu Neurodevelopmental Syndrome

Sources

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:

⁵⁶

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

Sources

Drugs & Therapeutics for Poirier-Bienvenu Neurodevelopmental Syndrome

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

Sources

Genetic Tests for Poirier-Bienvenu Neurodevelopmental Syndrome

Sources

Anatomical Context for Poirier-Bienvenu Neurodevelopmental Syndrome

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

⁴⁰

Tongue

Sources

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. ⁶ ⁵⁶	Li J...Jiang Y	31784560	2019
2	Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. ⁶ ⁵⁶	Nakashima M...Matsumoto N	30655572	2019
3	Truncating mutation in CSNK2B and myoclonic epilepsy. ⁶ ⁵⁶	Sakaguchi Y...Takenouchi T	28762608	2017
4	CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy. ⁵⁶ ⁶	Poirier K...Bienvenu T	28585349	2017

Sources

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	PubmedIds
1	CSNK2B	Casein Kinase 2 Beta	Protein Coding	908.64	Molecular basis known ⁵⁶ Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	28585349 31784560 28762608 (more) 30655572

Sources

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_001320.6(CSNK2B):c.108dup (p.Thr37fs)	duplication	Pathogenic	430724	rs1131692161	6:31635678-31635679	6:31667901-31667902
2	CSNK2B	NM_001320.7(CSNK2B):c.175+2T>G	SNV	Pathogenic	805768		6:31635749-31635749	6:31667972-31667972
3	CSNK2B	NM_001320.7(CSNK2B):c.533_534insGT (p.Pro179fs)	insertion	Pathogenic	805770		6:31637261-31637262	6:31669484-31669485
4	CSNK2B	NM_001320.7(CSNK2B):c.621dup (p.Lys208fs)	duplication	Pathogenic	805771		6:31637675-31637676	6:31669898-31669899
5	CSNK2B	NM_001320.7(CSNK2B):c.265del (p.Thr90fs)	deletion	Pathogenic	805772		6:31636404-31636404	6:31668627-31668627
6	CSNK2B	NM_001320.7(CSNK2B):c.368-2A>G	SNV	Pathogenic	805773		6:31637094-31637094	6:31669317-31669317
7	CSNK2B	NM_001320.7(CSNK2B):c.367+2T>C	SNV	Pathogenic	812520		6:31636951-31636951	6:31669174-31669174

Sources

Expression for Poirier-Bienvenu Neurodevelopmental Syndrome

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

Sources

Pathways for Poirier-Bienvenu Neurodevelopmental Syndrome

Sources

GO Terms for Poirier-Bienvenu Neurodevelopmental Syndrome

Sources

Sources for Poirier-Bienvenu Neurodevelopmental 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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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

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:

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