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 58 60 76 38 13 74
X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome 60
Mental Retardation, X-Linked, with Thin Body Habitus and Cortical Malformation 58
Mental Retardation X-Linked with Thin Body Habitus and Cortical Malformation 76
Syndrome, Ck 41
Cks 76

Characteristics:

Orphanet epidemiological data:

60
ck syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked recessive

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


HPO:

33
ck syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Ck Syndrome

OMIM : 58 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)

MalaCards based summary : Ck Syndrome, also known as x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome, is related to chikungunya and necrotizing autoimmune myopathy, 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, heart and prostate, and related phenotypes are malar flattening and high palate

UniProtKB/Swiss-Prot : 76 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 98)
# Related Disease Score Top Affiliating Genes
1 chikungunya 11.3
2 necrotizing autoimmune myopathy 11.3
3 distal myopathy with vocal cord weakness 11.2
4 isolated hyperckemia 11.1
5 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 11.1
6 chylomicron retention disease 11.0
7 miyoshi muscular dystrophy 1 11.0
8 hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency 11.0
9 myopathy, vacuolar, with casq1 aggregates 11.0
10 dysferlinopathy 11.0
11 phosphoglycerate mutase deficiency 11.0
12 welander distal myopathy, swedish type 11.0
13 myocardial infarction 10.5
14 acute myocardial infarction 10.5
15 ischemia 10.1
16 bronchitis 10.1
17 muscular dystrophy 10.1
18 breast cancer 10.1
19 kidney disease 10.1
20 kaposi sarcoma 10.0
21 lung cancer 10.0
22 ischemic heart disease 10.0
23 sarcoma 10.0
24 heart disease 10.0
25 rheumatoid arthritis 9.9
26 small cell cancer of the lung 9.9
27 neutrophil actin dysfunction 9.9
28 muscular dystrophy, duchenne type 9.9
29 asthma 9.9
30 alcohol abuse 9.9
31 muscle disorders 9.9
32 japanese encephalitis 9.9
33 hypoparathyroidism 9.9
34 merkel cell carcinoma 9.9
35 scrapie 9.9
36 cerebrovascular disease 9.9
37 compartment syndrome 9.9
38 polymyositis 9.9
39 nsdhl-related disorders 9.8
40 arteries, anomalies of 9.8
41 blood group, kidd system 9.8
42 progressive familial heart block, type ia 9.8
43 burkitt lymphoma 9.8
44 hypophosphatemic bone disease 9.8
45 neurofibromatosis, type i 9.8
46 neurofibromatosis, type iv, of riccardi 9.8
47 prostate cancer 9.8
48 schizophrenia 9.8
49 vertigo, benign recurrent 9.8
50 autism 9.8

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:

33 (show all 32)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 high palate 33 HP:0000218
3 intellectual disability 33 HP:0001249
4 seizures 33 HP:0001250
5 sleep disturbance 33 HP:0002360
6 scoliosis 33 HP:0002650
7 kyphosis 33 HP:0002808
8 hyperlordosis 33 HP:0003307
9 global developmental delay 33 HP:0001263
10 delayed speech and language development 33 HP:0000750
11 abnormal cortical bone morphology 33 HP:0003103
12 microcephaly 33 HP:0000252
13 micrognathia 33 HP:0000347
14 irritability 33 HP:0000737
15 retrognathia 33 HP:0000278
16 strabismus 33 HP:0000486
17 epicanthus 33 HP:0000286
18 prominent nasal bridge 33 HP:0000426
19 aggressive behavior 33 HP:0000718
20 slender build 33 HP:0001533
21 narrow face 33 HP:0000275
22 dental crowding 33 HP:0000678
23 joint hypermobility 33 HP:0001382
24 upslanted palpebral fissure 33 HP:0000582
25 long face 33 HP:0000276
26 pachygyria 33 HP:0001302
27 polymicrogyria 33 HP:0002126
28 generalized hypotonia 33 HP:0001290
29 hyperactivity 33 HP:0000752
30 almond-shaped palpebral fissure 33 HP:0007874
31 posteriorly rotated ears 33 HP:0000358
32 abnormal digit morphology 33 HP:0011297

Symptoms via clinical synopsis from OMIM:

58
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:
irritability
hyperactivity
aggression

Neurologic Central Nervous System:
pachygyria
polymicrogyria
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:

42
Bone, Heart, Prostate, Lung, Eye, Brain, Spinal Cord

Publications for Ck Syndrome

Articles related to Ck Syndrome:

# Title Authors Year
1
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. ( 25900314 )
2015
2
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. ( 21129721 )
2010

Variations for Ck Syndrome

ClinVar genetic disease variations for Ck Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NSDHL NM_001129765.1(NSDHL): c.1098dupT (p.Arg367Serfs) duplication Pathogenic rs121909834 GRCh37 Chromosome X, 152037636: 152037636
2 NSDHL NM_001129765.1(NSDHL): c.1098dupT (p.Arg367Serfs) duplication Pathogenic rs121909834 GRCh38 Chromosome X, 152869092: 152869092
3 NSDHL NM_001129765.1(NSDHL): c.696_698delGAA (p.Lys232del) deletion Pathogenic rs121909833 GRCh37 Chromosome X, 152036124: 152036126
4 NSDHL NM_001129765.1(NSDHL): c.696_698delGAA (p.Lys232del) deletion Pathogenic rs121909833 GRCh38 Chromosome 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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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