OCNDS
MCID: OKR001
MIFTS: 18

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 57 75 6
Ocnds 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
five unrelated girls have been reported (last curated august 2016)


HPO:

32
okur-chung neurodevelopmental syndrome:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Okur-Chung Neurodevelopmental Syndrome

OMIM : 57 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). Related phenotypes are hypertelorism and low-set ears

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Head And Neck Nose:
broad nasal bridge
upturned nose

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

Skeletal Spine:
scoliosis (1 patient)

Skeletal:
joint hyperextensibility (1 patient)

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

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

Muscle Soft Tissue:
hypotonia

Growth Other:
failure to thrive (in some patients)

Head And Neck Head:
microcephaly (3 patients)


Clinical features from OMIM:

617062

Human phenotypes related to Okur-Chung Neurodevelopmental Syndrome:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 clinodactyly 32 HP:0030084
4 high palate 32 HP:0000218
5 ptosis 32 HP:0000508
6 intellectual disability 32 HP:0001249
7 failure to thrive 32 occasional (7.5%) HP:0001508
8 constipation 32 HP:0002019
9 scoliosis 32 occasional (7.5%) HP:0002650
10 global developmental delay 32 HP:0001263
11 wide nasal bridge 32 HP:0000431
12 delayed speech and language development 32 HP:0000750
13 microcephaly 32 HP:0000252
14 anteverted nares 32 HP:0000463
15 micrognathia 32 HP:0000347
16 feeding difficulties 32 HP:0011968
17 epicanthus 32 HP:0000286
18 absent speech 32 HP:0001344
19 attention deficit hyperactivity disorder 32 HP:0007018
20 joint hypermobility 32 occasional (7.5%) HP:0001382
21 brachydactyly 32 HP:0001156
22 thin upper lip vermilion 32 HP:0000219
23 highly arched eyebrow 32 HP:0002553
24 synophrys 32 HP:0000664
25 pachygyria 32 occasional (7.5%) HP:0001302
26 generalized hypotonia 32 HP:0001290
27 iga deficiency 32 HP:0002720
28 igg deficiency 32 HP:0004315
29 atonic seizures 32 occasional (7.5%) HP:0010819
30 cortical gyral simplification 32 HP:0009879

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

Publications for Okur-Chung Neurodevelopmental Syndrome

Variations for Okur-Chung Neurodevelopmental Syndrome

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

75
# 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 14)
# 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 GRCh38 Chromosome 20, 505178: 505178
14 CSNK2A1 NM_177559.2(CSNK2A1): c.153T> A (p.Ser51Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 20, 485822: 485822

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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10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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