CKS
MCID: CKS001
MIFTS: 33

Ck Syndrome (CKS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ck Syndrome

MalaCards integrated aliases for Ck Syndrome:

Name: Ck Syndrome 56 58 73 36 13 71
X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome 58
Mental Retardation, X-Linked, with Thin Body Habitus and Cortical Malformation 56
Mental Retardation X-Linked with Thin Body Habitus and Cortical Malformation 73
Cks 73

Characteristics:

Orphanet epidemiological data:

58
ck syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
onset of seizures in infancy
allelic disorder to child syndrome


HPO:

31
ck syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Ck Syndrome

KEGG : 36 CK syndrome (CKS) is a recently described X-linked recessive disorder that affects males. It is characterized by mild to severe cognitive impairment, seizures beginning in infancy, microcephaly, cerebral cortical malformations, and a thin body habitus. Distinctive features include down slanting palpebral fissures, a high nasal bridge, a high arched palate, micrognathia, and short stature. Patients also have behavior problems, including aggression, attention deficit hyperactivity disorder, and irritability. Some have scoliosis and kyphosis. CK syndrome is caused by mutations in NSDHL, a gene that encodes an enzyme in the cholesterol biosynthesis pathway.

MalaCards based summary : Ck Syndrome, also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome, is related to isolated elevated serum creatine phosphokinase levels and congenital hemidysplasia with ichthyosiform erythroderma and limb defects, and has symptoms including difficulty sleeping An important gene associated with Ck Syndrome is NSDHL (NAD(P) Dependent Steroid Dehydrogenase-Like), and among its related pathways/superpathways is Steroid biosynthesis. Affiliated tissues include heart, kidney and lung, and related phenotypes are malar flattening and intellectual disability

OMIM : 56 CK syndrome (CKS) is an X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. It is named after the first identified patient (summary by McLarren et al., 2010). CHILD syndrome (308050) is an allelic disorder with a different phenotype. (300831)

UniProtKB/Swiss-Prot : 73 CK syndrome: A disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.

Related Diseases for Ck Syndrome

Diseases related to Ck Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 isolated elevated serum creatine phosphokinase levels 11.6
2 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 11.5
3 neuroleptic malignant syndrome 11.5
4 necrotizing autoimmune myopathy 11.4
5 miyoshi muscular dystrophy 1 11.3
6 distal myopathy with vocal cord weakness 11.3
7 chikungunya 11.2
8 chylomicron retention disease 11.1
9 glycogen storage disease x 11.1
10 welander distal myopathy 11.1
11 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 11.1
12 myopathy, vacuolar, with casq1 aggregates 11.1
13 dysferlinopathy 11.1
14 lama2-related muscular dystrophy 11.1
15 acute myocardial infarction 10.8
16 myocardial infarction 10.5
17 ischemia 10.4
18 muscular dystrophy 10.4
19 intermediate coronary syndrome 10.4
20 angina pectoris 10.4
21 muscular dystrophy, duchenne type 10.3
22 myopathy 10.3
23 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
24 kidney disease 10.3
25 48,xyyy 10.2
26 adenocarcinoma 10.2
27 bronchitis 10.2
28 cardiogenic shock 10.2
29 myositis 10.2
30 prostate cancer 10.2
31 ventricular fibrillation, paroxysmal familial, 1 10.2
32 congestive heart failure 10.2
33 adenoma 10.2
34 malignant hyperthermia 10.2
35 cardiac arrest 10.1
36 uveitis 10.1
37 polymyositis 10.1
38 breast cancer 10.1
39 small cell cancer of the lung 10.1
40 lung cancer 10.1
41 lung disease 10.1
42 head injury 10.1
43 kaposi sarcoma 10.0
44 asthma 10.0
45 heart disease 10.0
46 posterior uveitis 10.0
47 osteopetrosis 10.0
48 hypothyroidism 10.0
49 alcohol use disorder 10.0
50 acute kidney failure 10.0

Graphical network of the top 20 diseases related to Ck Syndrome:



Diseases related to Ck Syndrome

Symptoms & Phenotypes for Ck Syndrome

Human phenotypes related to Ck Syndrome:

58 31 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
4 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
5 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
6 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
7 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
8 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
9 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
10 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
11 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
12 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
13 kyphoscoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002751
14 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
15 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
16 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
17 long toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010511
18 narrow face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000275
19 slender build 58 31 hallmark (90%) Very frequent (99-80%) HP:0001533
20 dental crowding 58 31 hallmark (90%) Very frequent (99-80%) HP:0000678
21 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
22 almond-shaped palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0007874
23 microretrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000308
24 polymicrogyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002126
25 pachygyria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001302
26 long fingers 58 31 hallmark (90%) Very frequent (99-80%) HP:0100807
27 lumbar hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002938
28 asthenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0025406
29 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
30 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
31 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
32 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
33 scoliosis 31 HP:0002650
34 kyphosis 31 HP:0002808
35 hyperlordosis 31 HP:0003307
36 behavioral abnormality 58 Frequent (79-30%)
37 abnormal cortical bone morphology 31 HP:0003103
38 micrognathia 31 HP:0000347
39 retrognathia 31 HP:0000278
40 abnormality of the cerebral cortex 58 Very frequent (99-80%)
41 abnormality of cholesterol metabolism 58 Excluded (0%)
42 abnormal digit morphology 31 HP:0011297

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
kyphosis
lordosis

Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
epicanthal folds
upslanting palpebral fissures
almond-shaped eyes

Neurologic Central Nervous System:
polymicrogyria
pachygyria
mental retardation
delayed psychomotor development
speech delay
more
Head And Neck Mouth:
high-arched palate

Growth Weight:
thin body habitus
asthenic build

Skeletal:
hyperextensible joints

Skeletal Hands:
long digits

Laboratory Abnormalities:
normal serum cholesterol

Head And Neck Face:
micrognathia
retrognathia
malar hypoplasia
long, narrow face

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
irritability
aggression

Head And Neck Ears:
posteriorly rotated ears

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
high nasal bridge

Head And Neck Teeth:
crowded teeth

Skeletal Limbs:
long limbs

Skeletal Feet:
long digits

Clinical features from OMIM:

300831

UMLS symptoms related to Ck Syndrome:


difficulty sleeping

Drugs & Therapeutics for Ck Syndrome

Search Clinical Trials , NIH Clinical Center for Ck Syndrome

Genetic Tests for Ck Syndrome

Anatomical Context for Ck Syndrome

MalaCards organs/tissues related to Ck Syndrome:

40
Heart, Kidney, Lung, Bone, Eye, Cortex, Spinal Cord

Publications for Ck Syndrome

Articles related to Ck Syndrome:

(show all 12)
# Title Authors PMID Year
1
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. 61 56 6
21129721 2010
2
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 61 56 6
19842190 2009
3
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 56 6
19377476 2009
4
NSDHL-Related Disorders 61 6
21290788 2011
5
Anti-Ku syndrome with elevated CK and anti-Ku syndrome with anti-dsDNA are two distinct entities with different outcomes. 61
31126956 2019
6
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. 61
25646736 2015
7
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. 61
25900314 2015
8
Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development. 61
25652406 2015
9
High nitrate supply reduces growth in maize, from cell to whole plant. 61
25462086 2015
10
Sterol metabolism disorders and neurodevelopment-an update. 61
23798009 2013
11
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. 61
23042573 2012
12
Expression profile of NSDHL in human peripheral tissues. 61
22113624 2012

Variations for Ck Syndrome

ClinVar genetic disease variations for Ck Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSDHL NM_015922.3(NSDHL):c.1098dup (p.Arg367fs)duplication Pathogenic 21266 rs121909834 X:152037633-152037634 X:152869089-152869090
2 NSDHL NM_015922.3(NSDHL):c.693_695GAA[1] (p.Lys232del)short repeat Pathogenic 21268 rs121909833 X:152036121-152036123 X:152867577-152867579

Expression for Ck Syndrome

Search GEO for disease gene expression data for Ck Syndrome.

Pathways for Ck Syndrome

Pathways related to Ck Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

GO Terms for Ck Syndrome

Sources for Ck Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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