MCID: CKS001
MIFTS: 26

Ck Syndrome

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

Aliases & Classifications for Ck Syndrome

MalaCards integrated aliases for Ck Syndrome:

Name: Ck Syndrome 57 59 75 37 13 40 73
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 75
Cks 75

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:



Summaries for Ck Syndrome

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)

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

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 necrotizing autoimmune myopathy 11.1
2 chikungunya 11.1
3 isolated hyperckemia 10.9
4 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.9
5 chylomicron retention disease 10.9

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



Diseases related to Ck Syndrome

Symptoms & Phenotypes for Ck Syndrome

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:
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

Human phenotypes related to Ck Syndrome:

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

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

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:

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 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
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