CKS
MCID: CKS001
MIFTS: 31

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 57 59 74 37 13 72
X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome 59
Mental Retardation, X-Linked, with Thin Body Habitus and Cortical Malformation 57
Mental Retardation X-Linked with Thin Body Habitus and Cortical Malformation 74
Cks 74

Characteristics:

Orphanet epidemiological data:

59
ck syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
ck syndrome:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300831
KEGG 37 H01917
MeSH 44 D038901
Orphanet 59 ORPHA251383
MedGen 42 C3151781
UMLS 72 C3151781

Summaries for Ck Syndrome

KEGG : 37
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 congenital hemidysplasia with ichthyosiform erythroderma and limb defects and neuroleptic malignant syndrome, 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 bone, eye and cortex, and related phenotypes are malar flattening and high palate

OMIM : 57 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 : 74 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 233)
# Related Disease Score Top Affiliating Genes
1 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 11.5
2 neuroleptic malignant syndrome 11.5
3 necrotizing autoimmune myopathy 11.4
4 miyoshi muscular dystrophy 1 11.3
5 distal myopathy with vocal cord weakness 11.3
6 isolated hyperckemia 11.3
7 chikungunya 11.2
8 chylomicron retention disease 11.1
9 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 11.1
10 myopathy, vacuolar, with casq1 aggregates 11.1
11 dysferlinopathy 11.1
12 congenital muscular dystrophy type 1a 11.1
13 phosphoglycerate mutase deficiency 11.1
14 welander distal myopathy, swedish type 11.1
15 acute myocardial infarction 10.8
16 myocardial infarction 10.6
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 10.2
25 48,xyyy 10.2
26 cardiac arrest 10.2
27 adenocarcinoma 10.2
28 bronchitis 10.2
29 cardiogenic shock 10.2
30 myositis 10.2
31 prostate cancer 10.2
32 ventricular fibrillation, paroxysmal familial, 1 10.2
33 congestive heart failure 10.2
34 adenoma 10.2
35 malignant hyperthermia 10.2
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 heart disease 10.1
42 lung disease 10.1
43 head injury 10.1
44 kaposi sarcoma 10.0
45 asthma 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:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
5 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
6 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 irritability 59 32 hallmark (90%) Very frequent (99-80%) HP:0000737
11 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
12 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
13 kyphoscoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002751
14 prominent nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000426
15 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
16 slender build 59 32 hallmark (90%) Very frequent (99-80%) HP:0001533
17 dental crowding 59 32 hallmark (90%) Very frequent (99-80%) HP:0000678
18 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
19 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276
20 microretrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000308
21 polymicrogyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002126
22 pachygyria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001302
23 long fingers 59 32 hallmark (90%) Very frequent (99-80%) HP:0100807
24 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
25 almond-shaped palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0007874
26 lumbar hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002938
27 asthenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0025406
28 long toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010511
29 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
30 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
31 aggressive behavior 59 32 frequent (33%) Frequent (79-30%) HP:0000718
32 joint hypermobility 59 32 frequent (33%) Frequent (79-30%) HP:0001382
33 scoliosis 32 HP:0002650
34 kyphosis 32 HP:0002808
35 hyperlordosis 32 HP:0003307
36 behavioral abnormality 59 Frequent (79-30%)
37 abnormal cortical bone morphology 32 HP:0003103
38 micrognathia 32 HP:0000347
39 retrognathia 32 HP:0000278
40 abnormality of cholesterol metabolism 59 Excluded (0%)
41 abnormality of the cerebral cortex 59 Very frequent (99-80%)
42 abnormal digit morphology 32 HP:0011297

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
kyphosis
lordosis

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

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

Head And Neck Ears:
posteriorly rotated ears

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 Head:
microcephaly

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
irritability
aggression

Neurologic Central Nervous System:
polymicrogyria
pachygyria
mental retardation
delayed psychomotor development
speech delay
more
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:

41
Bone, Eye, Cortex

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. 38 8 71
21129721 2010
2
Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus. 38 8 71
19842190 2009
3
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 8 71
19377476 2009
4
NSDHL-Related Disorders 38 71
21290788 2011
5
Anti-Ku syndrome with elevated CK and anti-Ku syndrome with anti-dsDNA are two distinct entities with different outcomes. 38
31126956 2019
6
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. 38
25646736 2015
7
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. 38
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. 38
25652406 2015
9
High nitrate supply reduces growth in maize, from cell to whole plant. 38
25462086 2015
10
Sterol metabolism disorders and neurodevelopment-an update. 38
23798009 2013
11
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome. 38
23042573 2012
12
Expression profile of NSDHL in human peripheral tissues. 38
22113624 2012

Variations for Ck Syndrome

ClinVar genetic disease variations for Ck Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NSDHL NM_001129765.1(NSDHL): c.1098dup (p.Arg367fs) duplication Pathogenic rs121909834 X:152037636-152037636 X:152869092-152869092
2 NSDHL NM_001129765.1(NSDHL): c.693_695GAA[1] (p.Lys232del) short repeat Pathogenic rs121909833 X:152036124-152036126 X:152867580-152867582

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:

37
# 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 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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