MCID: OKR001
MIFTS: 18

Okur-Chung Neurodevelopmental Syndrome

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 high palate and thin upper lip vermilion

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

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
# 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 Likely pathogenic rs869312845 GRCh37 Chromosome 20, 485835: 485835
10 CSNK2A1 NM_177559.2(CSNK2A1): c.140G> A (p.Arg47Gln) single nucleotide variant Likely pathogenic rs869312845 GRCh38 Chromosome 20, 505191: 505191

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....