OCNDS
MCID: OKR001
MIFTS: 23

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 74 6
Ocnds 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

32
okur-chung neurodevelopmental syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617062
MeSH 44 D065886

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, also known as ocnds, is related to hypertelorism and ptosis. 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 : 74 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

Diseases related to Okur-Chung Neurodevelopmental Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypertelorism 10.5
2 ptosis 10.5
3 microcephaly 10.5

Symptoms & Phenotypes for Okur-Chung Neurodevelopmental Syndrome

Human phenotypes related to Okur-Chung Neurodevelopmental Syndrome:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 occasional (7.5%) HP:0001508
2 scoliosis 32 occasional (7.5%) HP:0002650
3 joint hypermobility 32 occasional (7.5%) HP:0001382
4 atonic seizures 32 occasional (7.5%) HP:0010819
5 pachygyria 32 occasional (7.5%) HP:0001302
6 abnormal heart morphology 32 very rare (1%) HP:0001627
7 hypertelorism 32 HP:0000316
8 low-set ears 32 HP:0000369
9 clinodactyly 32 HP:0030084
10 high palate 32 HP:0000218
11 ptosis 32 HP:0000508
12 intellectual disability 32 HP:0001249
13 constipation 32 HP:0002019
14 global developmental delay 32 HP:0001263
15 wide nasal bridge 32 HP:0000431
16 delayed speech and language development 32 HP:0000750
17 microcephaly 32 HP:0000252
18 anteverted nares 32 HP:0000463
19 micrognathia 32 HP:0000347
20 generalized hypotonia 32 HP:0001290
21 highly arched eyebrow 32 HP:0002553
22 feeding difficulties 32 HP:0011968
23 epicanthus 32 HP:0000286
24 absent speech 32 HP:0001344
25 attention deficit hyperactivity disorder 32 HP:0007018
26 brachydactyly 32 HP:0001156
27 thin upper lip vermilion 32 HP:0000219
28 decreased circulating iga level 32 HP:0002720
29 decreased circulating igg level 32 HP:0004315
30 synophrys 32 HP:0000664
31 simplified gyral pattern 32 HP:0009879

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

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:

41
Heart

Publications for Okur-Chung Neurodevelopmental Syndrome

Articles related to Okur-Chung Neurodevelopmental Syndrome:

# Title Authors PMID Year
1
Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome-A clinical study of 11 individuals. 38 8 71
29383814 2018
2
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. 38 8 71
29240241 2018
3
Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome. 38 8 71
29619237 2018
4
A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features. 8 71
28725024 2017
5
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 8 71
27048600 2016

Variations for Okur-Chung Neurodevelopmental Syndrome

ClinVar genetic disease variations for Okur-Chung Neurodevelopmental Syndrome:

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

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

74
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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