OCNDS
MCID: OKR001
MIFTS: 21

Okur-Chung Neurodevelopmental Syndrome (OCNDS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Okur-Chung Neurodevelopmental Syndrome

MalaCards integrated aliases for Okur-Chung Neurodevelopmental Syndrome:

Name: Okur-Chung Neurodevelopmental Syndrome 58 76 6
Ocnds 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

33
okur-chung neurodevelopmental syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Okur-Chung Neurodevelopmental Syndrome

OMIM : 58 Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016). (617062)

MalaCards based summary : Okur-Chung Neurodevelopmental Syndrome, is also known as ocnds. An important gene associated with Okur-Chung Neurodevelopmental Syndrome is CSNK2A1 (Casein Kinase 2 Alpha 1). Affiliated tissues include heart, and related phenotypes are failure to thrive and scoliosis

UniProtKB/Swiss-Prot : 76 Okur-Chung neurodevelopmental syndrome: An autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and variable dysmorphic features.

Related Diseases for Okur-Chung Neurodevelopmental Syndrome

Symptoms & Phenotypes for Okur-Chung Neurodevelopmental Syndrome

Human phenotypes related to Okur-Chung Neurodevelopmental Syndrome:

33 (show all 30)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 occasional (7.5%) HP:0001508
2 scoliosis 33 occasional (7.5%) HP:0002650
3 joint hypermobility 33 occasional (7.5%) HP:0001382
4 atonic seizures 33 occasional (7.5%) HP:0010819
5 pachygyria 33 occasional (7.5%) HP:0001302
6 hypertelorism 33 HP:0000316
7 low-set ears 33 HP:0000369
8 clinodactyly 33 HP:0030084
9 high palate 33 HP:0000218
10 ptosis 33 HP:0000508
11 intellectual disability 33 HP:0001249
12 constipation 33 HP:0002019
13 global developmental delay 33 HP:0001263
14 wide nasal bridge 33 HP:0000431
15 delayed speech and language development 33 HP:0000750
16 microcephaly 33 HP:0000252
17 anteverted nares 33 HP:0000463
18 micrognathia 33 HP:0000347
19 feeding difficulties 33 HP:0011968
20 epicanthus 33 HP:0000286
21 absent speech 33 HP:0001344
22 attention deficit hyperactivity disorder 33 HP:0007018
23 brachydactyly 33 HP:0001156
24 thin upper lip vermilion 33 HP:0000219
25 highly arched eyebrow 33 HP:0002553
26 decreased circulating iga level 33 HP:0002720
27 decreased circulating igg level 33 HP:0004315
28 synophrys 33 HP:0000664
29 generalized hypotonia 33 HP:0001290
30 simplified gyral pattern 33 HP:0009879

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ptosis
synophrys
epicanthal folds
arched eyebrows

Skeletal Hands:
clinodactyly
brachydactyly

Neurologic Central Nervous System:
intellectual disability
global developmental delay
simplified gyral pattern
pachygyria (1 patient)
delayed speech
more
Head And Neck Face:
micrognathia
dysmorphic features, variable

Cardiovascular Heart:
congenital heart defects (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems
attention deficit-hyperactivity disorder
tantrums
hand-flapping
volatile mood

Growth Other:
failure to thrive (in some patients)

Head And Neck Head:
microcephaly (3 patients)

Head And Neck Ears:
low-set ears
folded ears

Head And Neck Mouth:
high palate
thin upper lip

Abdomen Gastrointestinal:
constipation
feeding difficulties
gastric reflux

Head And Neck Nose:
broad nasal bridge
upturned nose

Muscle Soft Tissue:
hypotonia

Immunology:
igg deficiency
iga deficiency
hypogammaglobulinemia (in some patients)

Skeletal Spine:
scoliosis (1 patient)

Skeletal:
joint hyperextensibility (1 patient)

Clinical features from OMIM:

617062

Drugs & Therapeutics for Okur-Chung Neurodevelopmental Syndrome

Search Clinical Trials , NIH Clinical Center for Okur-Chung Neurodevelopmental Syndrome

Genetic Tests for Okur-Chung Neurodevelopmental Syndrome

Anatomical Context for Okur-Chung Neurodevelopmental Syndrome

MalaCards organs/tissues related to Okur-Chung Neurodevelopmental Syndrome:

42
Heart

Publications for Okur-Chung Neurodevelopmental Syndrome

Articles related to Okur-Chung Neurodevelopmental Syndrome:

# Title Authors Year
1
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. ( 29240241 )
2018
2
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals. ( 29383814 )
2018
3
Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome. ( 29619237 )
2018
4
A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features. ( 28725024 )
2017
5
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. ( 27048600 )
2016

Variations for Okur-Chung Neurodevelopmental Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Okur-Chung Neurodevelopmental Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 CSNK2A1 p.Arg47Gln VAR_077045 rs869312845
2 CSNK2A1 p.Tyr50Ser VAR_077046 rs869312849
3 CSNK2A1 p.Asp175Gly VAR_077047 rs869312848
4 CSNK2A1 p.Lys198Arg VAR_077048 rs869312840

ClinVar genetic disease variations for Okur-Chung Neurodevelopmental Syndrome:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSNK2A1 NM_177559.2(CSNK2A1): c.824+2T> C single nucleotide variant Pathogenic rs869312846 GRCh38 Chromosome 20, 488676: 488676
2 CSNK2A1 NM_177559.2(CSNK2A1): c.824+2T> C single nucleotide variant Pathogenic rs869312846 GRCh37 Chromosome 20, 469320: 469320
3 CSNK2A1 NM_001895.3(CSNK2A1): c.593A> G (p.Lys198Arg) single nucleotide variant Pathogenic rs869312840 GRCh37 Chromosome 20, 472926: 472926
4 CSNK2A1 NM_001895.3(CSNK2A1): c.593A> G (p.Lys198Arg) single nucleotide variant Pathogenic rs869312840 GRCh38 Chromosome 20, 492282: 492282
5 CSNK2A1 NM_177559.2(CSNK2A1): c.524A> G (p.Asp175Gly) single nucleotide variant Pathogenic rs869312848 GRCh38 Chromosome 20, 492351: 492351
6 CSNK2A1 NM_177559.2(CSNK2A1): c.524A> G (p.Asp175Gly) single nucleotide variant Pathogenic rs869312848 GRCh37 Chromosome 20, 472995: 472995
7 CSNK2A1 NM_177559.2(CSNK2A1): c.149A> C (p.Tyr50Ser) single nucleotide variant Pathogenic rs869312849 GRCh38 Chromosome 20, 505182: 505182
8 CSNK2A1 NM_177559.2(CSNK2A1): c.149A> C (p.Tyr50Ser) single nucleotide variant Pathogenic rs869312849 GRCh37 Chromosome 20, 485826: 485826
9 CSNK2A1 NM_177559.2(CSNK2A1): c.140G> A (p.Arg47Gln) single nucleotide variant Pathogenic/Likely pathogenic rs869312845 GRCh37 Chromosome 20, 485835: 485835
10 CSNK2A1 NM_177559.2(CSNK2A1): c.140G> A (p.Arg47Gln) single nucleotide variant Pathogenic/Likely pathogenic rs869312845 GRCh38 Chromosome 20, 505191: 505191
11 CSNK2A1 NM_001895.3(CSNK2A1): c.1145C> T (p.Pro382Leu) single nucleotide variant Uncertain significance rs1064796883 GRCh38 Chromosome 20, 483992: 483992
12 CSNK2A1 NM_001895.3(CSNK2A1): c.1145C> T (p.Pro382Leu) single nucleotide variant Uncertain significance rs1064796883 GRCh37 Chromosome 20, 464636: 464636
13 CSNK2A1 NM_177559.2(CSNK2A1): c.153T> A (p.Ser51Arg) single nucleotide variant Likely pathogenic rs1555764992 GRCh38 Chromosome 20, 505178: 505178
14 CSNK2A1 NM_177559.2(CSNK2A1): c.153T> A (p.Ser51Arg) single nucleotide variant Likely pathogenic rs1555764992 GRCh37 Chromosome 20, 485822: 485822
15 CSNK2A1 NM_177559.3(CSNK2A1): c.466G> C (p.Asp156His) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 476407: 476407
16 CSNK2A1 NM_177559.3(CSNK2A1): c.466G> C (p.Asp156His) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 495763: 495763
17 CSNK2A1 NM_177559.3(CSNK2A1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 508551: 508551
18 CSNK2A1 NM_177559.3(CSNK2A1): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 489195: 489195

Expression for Okur-Chung Neurodevelopmental Syndrome

Search GEO for disease gene expression data for Okur-Chung Neurodevelopmental Syndrome.

Pathways for Okur-Chung Neurodevelopmental Syndrome

GO Terms for Okur-Chung Neurodevelopmental Syndrome

Sources for Okur-Chung Neurodevelopmental Syndrome

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75 UMLS via Orphanet
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