POBINDS
MCID: PRR044
MIFTS: 22

Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS)

Categories: Genetic diseases, Neuronal diseases

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:



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.

Related Diseases for Poirier-Bienvenu Neurodevelopmental Syndrome

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)

Drugs & Therapeutics for Poirier-Bienvenu Neurodevelopmental Syndrome

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

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

Anatomical Context for Poirier-Bienvenu Neurodevelopmental Syndrome

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

40
Tongue

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
31784560 2019
2
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. 6 57
30655572 2019
3
Truncating mutation in CSNK2B and myoclonic epilepsy. 57 6
28762608 2017
4
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy. 6 57
28585349 2017
5
Poirier-Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth. 61
33166063 2020

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 SNP 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

Expression for Poirier-Bienvenu Neurodevelopmental Syndrome

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

Pathways for Poirier-Bienvenu Neurodevelopmental Syndrome

GO Terms for Poirier-Bienvenu Neurodevelopmental Syndrome

Sources for Poirier-Bienvenu Neurodevelopmental Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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