OCNDS
MCID: OKR001
MIFTS: 30

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 73 29 6
Ocnds 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype


HPO:

31
okur-chung neurodevelopmental syndrome:
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) (Updated 05-Mar-2021)

MalaCards based summary : Okur-Chung Neurodevelopmental Syndrome, also known as ocnds, is related to alacrima, achalasia, and mental retardation syndrome and hypertelorism. 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 : 73 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 alacrima, achalasia, and mental retardation syndrome 10.4
2 hypertelorism 10.3
3 trichorhinophalangeal syndrome, type i 10.3
4 ptosis 10.3
5 microcephaly 10.3
6 hypotonia 10.3
7 duplication of the pituitary gland 10.3

Graphical network of the top 20 diseases related to Okur-Chung Neurodevelopmental Syndrome:



Diseases related to Okur-Chung Neurodevelopmental Syndrome

Symptoms & Phenotypes for Okur-Chung Neurodevelopmental Syndrome

Human phenotypes related to Okur-Chung Neurodevelopmental Syndrome:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
global developmental delay
simplified gyral pattern
delayed speech
pachygyria (1 patient)
more
Abdomen Gastrointestinal:
constipation
feeding difficulties
gastric reflux

Head And Neck Face:
micrognathia
dysmorphic features, variable

Skeletal Hands:
brachydactyly
clinodactyly

Head And Neck Nose:
broad nasal bridge
upturned nose

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 Eyes:
ptosis
hypertelorism
synophrys
epicanthal folds
arched eyebrows

Head And Neck Mouth:
high palate
thin upper lip

Head And Neck Ears:
low-set ears
folded ears

Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
congenital heart defects (in some patients)

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

Skeletal Spine:
scoliosis (1 patient)

Skeletal:
joint hyperextensibility (1 patient)

Clinical features from OMIM®:

617062 (Updated 05-Mar-2021)

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

Genetic tests related to Okur-Chung Neurodevelopmental Syndrome:

# Genetic test Affiliating Genes
1 Okur-Chung Neurodevelopmental Syndrome 29 CSNK2A1

Anatomical Context for Okur-Chung Neurodevelopmental Syndrome

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

40
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. 61 57 6
29383814 2018
2
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. 6 57 61
29240241 2018
3
Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome. 6 57 61
29619237 2018
4
A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features. 57 6
28725024 2017
5
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 6 57
27048600 2016
6
Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report. 61
32746809 2020
7
[Identification of a novel de novo variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome]. 61
32472542 2020
8
Okur-Chung neurodevelopmental syndrome in a patient from Spain. 61
31729156 2020

Variations for Okur-Chung Neurodevelopmental Syndrome

ClinVar genetic disease variations for Okur-Chung Neurodevelopmental Syndrome:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSNK2A1 NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln) SNV Pathogenic 224796 rs869312845 20:485835-485835 20:505191-505191
2 CSNK2A1 NM_177559.3(CSNK2A1):c.524A>G (p.Asp175Gly) SNV Pathogenic 224799 rs869312848 20:472995-472995 20:492351-492351
3 CSNK2A1 NM_177559.3(CSNK2A1):c.149A>C (p.Tyr50Ser) SNV Pathogenic 224800 rs869312849 20:485826-485826 20:505182-505182
4 CSNK2A1 NM_177559.3(CSNK2A1):c.824+2T>C SNV Pathogenic 224797 rs869312846 20:469320-469320 20:488676-488676
5 CSNK2A1 NM_177559.3(CSNK2A1):c.468T>A (p.Asp156Glu) SNV Pathogenic 421395 rs1064795110 20:476405-476405 20:495761-495761
6 CSNK2A1 NM_177559.3(CSNK2A1):c.466G>C (p.Asp156His) SNV Pathogenic 619014 rs1568512728 20:476407-476407 20:495763-495763
7 CSNK2A1 NM_177559.3(CSNK2A1):c.1A>G (p.Met1Val) SNV Pathogenic 619015 rs1568532361 20:489195-489195 20:508551-508551
8 CSNK2A1 NM_177559.3(CSNK2A1):c.96del (p.Glu32fs) Deletion Pathogenic 817389 rs1600392059 20:489100-489100 20:508456-508456
9 CSNK2A1 NM_177559.3(CSNK2A1):c.139C>G (p.Arg47Gly) SNV Pathogenic 280816 rs886041956 20:485836-485836 20:505192-505192
10 CSNK2A1 NM_177559.3(CSNK2A1):c.934C>T (p.Arg312Trp) SNV Pathogenic 984881 20:468110-468110 20:487466-487466
11 CSNK2A1 NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) SNV Pathogenic 432689 rs869312849 20:485826-485826 20:505182-505182
12 CSNK2A1 NM_177559.3(CSNK2A1):c.466G>T (p.Asp156Tyr) SNV Likely pathogenic 984880 20:476407-476407 20:495763-495763
13 CSNK2A1 NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) SNV Likely pathogenic 372946 rs1057518092 20:480553-480553 20:499909-499909
14 CSNK2A1 NM_177559.3(CSNK2A1):c.154G>A (p.Glu52Lys) SNV Likely pathogenic 976763 20:485821-485821 20:505177-505177
15 RBCK1 GRCh37/hg19 20p13(chr20:378136-547319)x1 copy number loss Likely pathogenic 984755 20:378136-547319
16 CSNK2A1 NM_177559.3(CSNK2A1):c.367-1G>A SNV Likely pathogenic 973856 20:478425-478425 20:497781-497781
17 CSNK2A1 NM_177559.3(CSNK2A1):c.479A>G (p.His160Arg) SNV Likely pathogenic 975528 20:476394-476394 20:495750-495750
18 CSNK2A1 NM_177559.3(CSNK2A1):c.153T>A (p.Ser51Arg) SNV Likely pathogenic 559896 rs1555764992 20:485822-485822 20:505178-505178
19 CSNK2A1 NM_177559.3(CSNK2A1):c.1145C>T (p.Pro382Leu) SNV Uncertain significance 424257 rs1064796883 20:464636-464636 20:483992-483992
20 CSNK2A1 NM_177559.3(CSNK2A1):c.472A>G (p.Lys158Glu) SNV Uncertain significance 975905 20:476401-476401 20:495757-495757
21 CSNK2A1 NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) SNV Uncertain significance 224790 rs869312840 20:472926-472926 20:492282-492282

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

73
# 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

Molecular functions related to Okur-Chung Neurodevelopmental Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 8.96 RBCK1 CSNK2A1
2 identical protein binding GO:0042802 8.62 RBCK1 CSNK2A1

Sources for Okur-Chung 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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