CSYN
MCID: CTY001
MIFTS: 51

Cat Eye Syndrome (CSYN)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cat Eye Syndrome

MalaCards integrated aliases for Cat Eye Syndrome:

Name: Cat Eye Syndrome 58 77 54 30 13 6 74
C Syndrome 58 77 54 60 76 38 30 13 6 41
Opitz Trigonocephaly Syndrome 58 54 60 76 74
Trigonocephaly 77 38 30 56
Trigonocephaly Syndrome 58 54 76
Ces 58 54 60
Chromosome 22 Partial Tetrasomy 58 54
Trigonocephaly C Syndrome 54 60
Schmid-Fraccaro Syndrome 58 54
Inv Dup(22)(q11) 58 54
Opitz Trigonocephaly C Syndrome 60
Opitz C Trigonocephaly 60
Cat-Eye Syndrome 60
Otcs 60
Csyn 76

Characteristics:

Orphanet epidemiological data:

60
cat-eye syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood,normal life expectancy;
c syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cat eye syndrome:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance

c syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cat Eye Syndrome

NIH Rare Diseases : 54 C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. This condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. While many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. At least some cases of C syndrome have been caused by dysfunction of the CD96 gene.  

MalaCards based summary : Cat Eye Syndrome, also known as c syndrome, is related to trigonocephaly 2 and trigonocephaly 1, and has symptoms including seizures An important gene associated with Cat Eye Syndrome is CD96 (CD96 Molecule), and among its related pathways/superpathways are MAPK signaling pathway and Adherens junction. Affiliated tissues include eye, skin and heart, and related phenotypes are short neck and high palate

OMIM : 58 Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11). (115470)

UniProtKB/Swiss-Prot : 76 C syndrome: A syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.

Wikipedia : 77 Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from Greek metopon,... more...

Related Diseases for Cat Eye Syndrome

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

(show top 50) (show all 261)
# Related Disease Score Top Affiliating Genes
1 trigonocephaly 2 12.6
2 trigonocephaly 1 12.6
3 trigonocephaly with short stature and developmental delay 12.3
4 ornithine transcarbamylase deficiency, hyperammonemia due to 12.3
5 isolated trigonocephaly 12.2
6 polysyndactyly trigonocephaly agenesis of corpus callosum 12.0
7 trigonocephaly-broad thumbs syndrome 12.0
8 cauda equina syndrome 11.9
9 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.8
10 say meyer syndrome 11.7
11 chromosome 9p deletion syndrome 11.4
12 opitz gbbb syndrome, type i 11.4
13 baraitser-winter syndrome 11.2
14 centripetalis recessive dystrophic epidermolysis bullosa 11.1
15 ben ari shuper mimouni syndrome 11.0
16 lowry-maclean syndrome 11.0
17 chromosome 3pter-p25 deletion syndrome 11.0
18 orofaciodigital syndrome xiv 11.0
19 dpm2-cdg 11.0
20 bohring-opitz syndrome 10.8
21 neural tube defects 10.7
22 synostosis 10.4
23 depression 10.4
24 tetralogy of fallot 10.3
25 multiple sclerosis 10.3
26 horns in sheep 10.3
27 plagiocephaly 10.2
28 ptosis 10.2
29 microcephaly 10.2
30 intracranial hypertension 10.2
31 complete cryptophthalmia 10.1
32 allergic rhinitis 10.1
33 rhinitis 10.1
34 pneumonia 10.1
35 encephalopathy 10.1
36 alacrima, achalasia, and mental retardation syndrome 10.1
37 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
38 intraocular pressure quantitative trait locus 10.1
39 cystic echinococcosis 10.1
40 echinococcosis 10.1
41 nodular lymphocyte predominant hodgkin lymphoma 10.1
42 arteries, anomalies of 10.0
43 coronary heart disease 1 10.0
44 coronary artery anomaly 10.0
45 heart disease 10.0
46 gastroesophageal reflux 10.0
47 dry eye syndrome 10.0
48 common cold 10.0
49 vaginitis 10.0
50 bruxism 10.0

Graphical network of the top 20 diseases related to Cat Eye Syndrome:



Diseases related to Cat Eye Syndrome

Symptoms & Phenotypes for Cat Eye Syndrome

Human phenotypes related to Cat Eye Syndrome:

60 33 (show top 50) (show all 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 high palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000218
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 gingival overgrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000212
5 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
6 short nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003196
7 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
8 smooth philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000319
9 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
10 long philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000343
11 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
12 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
13 biparietal narrowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0004422
14 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
15 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
16 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
17 hypoplasia of the ear cartilage 60 33 hallmark (90%) Very frequent (99-80%) HP:0100720
18 upslanted palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0000582
19 anal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002023
20 female pseudohermaphroditism 60 33 hallmark (90%) Very frequent (99-80%) HP:0010458
21 preauricular skin tag 60 33 hallmark (90%) Very frequent (99-80%) HP:0000384
22 preauricular pit 60 33 hallmark (90%) Very frequent (99-80%) HP:0004467
23 trigonocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000243
24 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
25 pectus excavatum 60 33 frequent (33%) Frequent (79-30%) HP:0000767
26 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
27 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001252
28 hip dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0001385
29 short stature 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004322
30 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
31 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
32 micromelia 60 33 frequent (33%) Frequent (79-30%) HP:0002983
33 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
34 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
35 failure to thrive in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0001531
36 renal hypoplasia/aplasia 60 33 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0008678
37 abnormality of immune system physiology 60 33 frequent (33%) Frequent (79-30%) HP:0010978
38 chorioretinal coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000567
39 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
40 bilateral single transverse palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0007598
41 abnormality of the ribs 60 33 frequent (33%) Frequent (79-30%) HP:0000772
42 sacral dimple 60 33 frequent (33%) Frequent (79-30%) HP:0000960
43 redundant skin 60 33 frequent (33%) Frequent (79-30%) HP:0001582
44 thin vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0000233
45 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
46 hydronephrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000126
47 abnormal localization of kidney 60 33 frequent (33%) Frequent (79-30%) HP:0100542
48 talipes 60 33 frequent (33%) Frequent (79-30%) HP:0001883
49 abnormality of the anus 60 33 frequent (33%) Frequent (79-30%) HP:0004378
50 accessory oral frenulum 60 33 frequent (33%) Frequent (79-30%) HP:0000191

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
coloboma of iris
coloboma of choroid
coloboma of retina
more
Head And Neck Mouth:
cleft palate

Genitourinary Kidneys:
renal agenesis

Cardiovascular Heart:
congenital heart defects
total anomalous pulmonary venous return

Abdomen Gastrointestinal:
malrotation of gut
anal atresia with fistula

Skeletal Limbs:
radial aplasia

Head And Neck Ears:
low-set ears
preauricular tags
preauricular pits
stenotic external auditory canal

Head And Neck Face:
micrognathia

Abdomen Biliary Tract:
biliary atresia

Growth Height:
normal in majority of cases

Genitourinary Internal Genitalia Female:
agenesis of uterus

Neurologic Central Nervous System:
normal to mild mental retardation

Clinical features from OMIM:

115470 211750

UMLS symptoms related to Cat Eye Syndrome:


seizures

Drugs & Therapeutics for Cat Eye Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Niemann Pick Type C Disease Recruiting NCT01306604

Search NIH Clinical Center for Cat Eye Syndrome

Genetic Tests for Cat Eye Syndrome

Genetic tests related to Cat Eye Syndrome:

# Genetic test Affiliating Genes
1 Cat Eye Syndrome 30
2 C Syndrome 30 CD96
3 Trigonocephaly 30

Anatomical Context for Cat Eye Syndrome

MalaCards organs/tissues related to Cat Eye Syndrome:

42
Eye, Skin, Heart, Bone, Kidney, Uterus, Retina

Publications for Cat Eye Syndrome

Articles related to Cat Eye Syndrome:

(show top 50) (show all 119)
# Title Authors Year
1
Congenital diaphragmatic hernia in a case of Cat eye syndrome. ( 30214764 )
2018
2
Comparative proteomic analysis of cat eye syndrome critical region protein 1- function in tumor-associated macrophages and immune response regulation of glial tumors. ( 30323894 )
2018
3
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. ( 29330474 )
2018
4
MA1llerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review. ( 28919146 )
2017
5
GNE-886: A Potent and Selective Inhibitor of the Cat Eye Syndrome Chromosome Region Candidate 2 Bromodomain (CECR2). ( 28740608 )
2017
6
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. ( 27874174 )
2016
7
Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: A family report. ( 26518262 )
2015
8
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. ( 26347037 )
2015
9
Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region. ( 25681963 )
2015
10
Quadricuspid aortic valve and anomalous systemic venous connection in a patient with cat-eye syndrome. ( 25825400 )
2015
11
Severe psychomotor delay in a severe presentation of cat-eye syndrome. ( 25648072 )
2015
12
Cat eye syndrome, anorectal malformation, and Hirschsprung's disease. ( 24741221 )
2014
13
A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. ( 24959203 )
2014
14
Cat eye syndrome. ( 24842361 )
2014
15
A severe prenatal presentation of Cat Eye Syndrome. ( 23982124 )
2013
16
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. ( 23794175 )
2013
17
Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature. ( 23928108 )
2013
18
Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum. ( 23691403 )
2013
19
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome. ( 23747353 )
2013
20
Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome. ( 24255872 )
2013
21
A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma. ( 23112755 )
2012
22
An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature. ( 22730277 )
2012
23
A 600a88kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. ( 22395867 )
2012
24
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype. ( 22495764 )
2012
25
Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family. ( 22890013 )
2012
26
Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. ( 21165297 )
2010
27
Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. ( 20420025 )
2010
28
Clinical characteristics of a sample of patients with cat eye syndrome. ( 20835645 )
2010
29
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). ( 20583299 )
2010
30
Interrupted aortic arch type B in A patient with cat eye syndrome. ( 19629279 )
2009
31
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion. ( 19449408 )
2009
32
Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome. ( 18955897 )
2009
33
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome. ( 18203172 )
2008
34
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome. ( 18553551 )
2008
35
Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association. ( 17706516 )
2007
36
Cat eye syndrome associated with schizophrenia. ( 17327960 )
2007
37
Interdisciplinary rehabilitation of a patient with Opitz C-syndrome and extensive craniofacial malformation. ( 17414277 )
2007
38
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. ( 17397050 )
2007
39
Duane syndrome associated with the Cat Eye syndrome: a case report. ( 17001329 )
2007
40
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). ( 16835930 )
2006
41
Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome. ( 17062489 )
2006
42
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance. ( 16708226 )
2006
43
Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). ( 17033958 )
2006
44
Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism. ( 16293919 )
2005
45
FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II. ( 15953404 )
2005
46
Partial trisomy 13 with features similar to C syndrome. ( 15235171 )
2004
47
A new case of a severe clinical phenotype of the cat-eye syndrome. ( 15658620 )
2004
48
Cat-eye syndrome in a fetus with increased nuchal translucency: three-dimensional ultrasound and echocardiographic evaluation of the fetal phenotype. ( 15343614 )
2004
49
Opitz trigonocephaly C syndrome associated with hearing loss. ( 14651551 )
2003
50
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. ( 12746416 )
2003

Variations for Cat Eye Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Cat Eye Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 CD96 p.Thr280Met VAR_037578 rs119477056

ClinVar genetic disease variations for Cat Eye Syndrome:

6 (show top 50) (show all 166)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD96 NM_005816.4(CD96): c.54dupT (p.Val19Cysfs) duplication Uncertain significance rs200703204 GRCh37 Chromosome 3, 111261149: 111261149
2 CD96 NM_005816.4(CD96): c.54dupT (p.Val19Cysfs) duplication Uncertain significance rs200703204 GRCh38 Chromosome 3, 111542302: 111542302
3 CD96 NM_198196.2(CD96): c.-121C> T single nucleotide variant Benign rs2276873 GRCh38 Chromosome 3, 111542128: 111542128
4 CD96 NM_198196.2(CD96): c.-121C> T single nucleotide variant Benign rs2276873 GRCh37 Chromosome 3, 111260975: 111260975
5 CD96 NM_198196.2(CD96): c.-115G> A single nucleotide variant Uncertain significance rs886057763 GRCh38 Chromosome 3, 111542134: 111542134
6 CD96 NM_198196.2(CD96): c.-115G> A single nucleotide variant Uncertain significance rs886057763 GRCh37 Chromosome 3, 111260981: 111260981
7 CD96 NM_198196.2(CD96): c.424G> C (p.Ala142Pro) single nucleotide variant Benign rs2276872 GRCh38 Chromosome 3, 111567528: 111567528
8 CD96 NM_198196.2(CD96): c.424G> C (p.Ala142Pro) single nucleotide variant Benign rs2276872 GRCh37 Chromosome 3, 111286375: 111286375
9 CD96 NM_198196.2(CD96): c.626A> C (p.Gln209Pro) single nucleotide variant Likely benign rs61733706 GRCh38 Chromosome 3, 111579061: 111579061
10 CD96 NM_198196.2(CD96): c.626A> C (p.Gln209Pro) single nucleotide variant Likely benign rs61733706 GRCh37 Chromosome 3, 111297908: 111297908
11 CD96 NM_198196.2(CD96): c.634C> T (p.Leu212Phe) single nucleotide variant Likely benign rs149101142 GRCh38 Chromosome 3, 111579069: 111579069
12 CD96 NM_198196.2(CD96): c.634C> T (p.Leu212Phe) single nucleotide variant Likely benign rs149101142 GRCh37 Chromosome 3, 111297916: 111297916
13 CD96 NM_198196.2(CD96): c.983A> G (p.Asp328Gly) single nucleotide variant Uncertain significance rs886057765 GRCh38 Chromosome 3, 111600762: 111600762
14 CD96 NM_198196.2(CD96): c.983A> G (p.Asp328Gly) single nucleotide variant Uncertain significance rs886057765 GRCh37 Chromosome 3, 111319609: 111319609
15 CD96 NM_198196.2(CD96): c.1014A> G (p.Thr338=) single nucleotide variant Benign rs145863419 GRCh38 Chromosome 3, 111600793: 111600793
16 CD96 NM_198196.2(CD96): c.1014A> G (p.Thr338=) single nucleotide variant Benign rs145863419 GRCh37 Chromosome 3, 111319640: 111319640
17 CD96 NM_198196.2(CD96): c.1214G> A (p.Ser405Asn) single nucleotide variant Likely benign rs138396447 GRCh38 Chromosome 3, 111606778: 111606778
18 CD96 NM_198196.2(CD96): c.1214G> A (p.Ser405Asn) single nucleotide variant Likely benign rs138396447 GRCh37 Chromosome 3, 111325625: 111325625
19 CD96 NM_198196.2(CD96): c.1229-1G> A single nucleotide variant Likely benign rs77738677 GRCh38 Chromosome 3, 111623753: 111623753
20 CD96 NM_198196.2(CD96): c.1229-1G> A single nucleotide variant Likely benign rs77738677 GRCh37 Chromosome 3, 111342600: 111342600
21 CD96 NM_198196.2(CD96): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs886057766 GRCh38 Chromosome 3, 111623817: 111623817
22 CD96 NM_198196.2(CD96): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs886057766 GRCh37 Chromosome 3, 111342664: 111342664
23 CD96 NM_198196.2(CD96): c.1295A> T (p.Gln432Leu) single nucleotide variant Likely benign rs148659928 GRCh38 Chromosome 3, 111623820: 111623820
24 CD96 NM_198196.2(CD96): c.1295A> T (p.Gln432Leu) single nucleotide variant Likely benign rs148659928 GRCh37 Chromosome 3, 111342667: 111342667
25 CD96 NM_198196.2(CD96): c.1410G> C (p.Pro470=) single nucleotide variant Benign rs1533270 GRCh38 Chromosome 3, 111637236: 111637236
26 CD96 NM_198196.2(CD96): c.1410G> C (p.Pro470=) single nucleotide variant Benign rs1533270 GRCh37 Chromosome 3, 111356083: 111356083
27 CD96 NM_198196.2(CD96): c.1499C> T (p.Thr500Met) single nucleotide variant Likely benign rs140955483 GRCh38 Chromosome 3, 111638142: 111638142
28 CD96 NM_198196.2(CD96): c.1499C> T (p.Thr500Met) single nucleotide variant Likely benign rs140955483 GRCh37 Chromosome 3, 111356989: 111356989
29 CD96 NM_198196.2(CD96): c.*143C> A single nucleotide variant Uncertain significance rs886057769 GRCh38 Chromosome 3, 111649949: 111649949
30 CD96 NM_198196.2(CD96): c.*143C> A single nucleotide variant Uncertain significance rs886057769 GRCh37 Chromosome 3, 111368796: 111368796
31 CD96 NM_198196.2(CD96): c.*172G> T single nucleotide variant Uncertain significance rs886057770 GRCh38 Chromosome 3, 111649978: 111649978
32 CD96 NM_198196.2(CD96): c.*172G> T single nucleotide variant Uncertain significance rs886057770 GRCh37 Chromosome 3, 111368825: 111368825
33 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh38 Chromosome 3, 111585362: 111585362
34 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
35 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
36 CD96 NM_198196.2(CD96): c.*841G> C single nucleotide variant Uncertain significance rs886057775 GRCh38 Chromosome 3, 111650647: 111650647
37 CD96 NM_198196.2(CD96): c.*841G> C single nucleotide variant Uncertain significance rs886057775 GRCh37 Chromosome 3, 111369494: 111369494
38 CD96 NM_198196.2(CD96): c.*1155C> A single nucleotide variant Uncertain significance rs886057778 GRCh38 Chromosome 3, 111650961: 111650961
39 CD96 NM_198196.2(CD96): c.*1155C> A single nucleotide variant Uncertain significance rs886057778 GRCh37 Chromosome 3, 111369808: 111369808
40 CD96 NM_198196.2(CD96): c.*1437A> G single nucleotide variant Uncertain significance rs886057780 GRCh38 Chromosome 3, 111651243: 111651243
41 CD96 NM_198196.2(CD96): c.*1437A> G single nucleotide variant Uncertain significance rs886057780 GRCh37 Chromosome 3, 111370090: 111370090
42 CD96 NM_198196.2(CD96): c.*1539G> T single nucleotide variant Benign rs6763322 GRCh38 Chromosome 3, 111651345: 111651345
43 CD96 NM_198196.2(CD96): c.*1539G> T single nucleotide variant Benign rs6763322 GRCh37 Chromosome 3, 111370192: 111370192
44 CD96 NM_198196.2(CD96): c.*1815G> A single nucleotide variant Likely benign rs146712540 GRCh38 Chromosome 3, 111651621: 111651621
45 CD96 NM_198196.2(CD96): c.*1815G> A single nucleotide variant Likely benign rs146712540 GRCh37 Chromosome 3, 111370468: 111370468
46 CD96 NM_198196.2(CD96): c.*1843G> A single nucleotide variant Uncertain significance rs886057781 GRCh38 Chromosome 3, 111651649: 111651649
47 CD96 NM_198196.2(CD96): c.*1843G> A single nucleotide variant Uncertain significance rs886057781 GRCh37 Chromosome 3, 111370496: 111370496
48 CD96 NM_198196.2(CD96): c.*2090A> G single nucleotide variant Uncertain significance rs868287764 GRCh38 Chromosome 3, 111651896: 111651896
49 CD96 NM_198196.2(CD96): c.*2090A> G single nucleotide variant Uncertain significance rs868287764 GRCh37 Chromosome 3, 111370743: 111370743
50 CD96 NM_198196.2(CD96): c.*2092_*2093insGAAAGAA insertion Uncertain significance rs557338377 GRCh38 Chromosome 3, 111651898: 111651899

Copy number variations for Cat Eye Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 160773 22 16300000 24300000 Copy number Cat eye syndrome
2 163220 22 25900000 29600000 Deletion Cat eye syndrome

Expression for Cat Eye Syndrome

Search GEO for disease gene expression data for Cat Eye Syndrome.

Pathways for Cat Eye Syndrome

Pathways related to Cat Eye Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Adherens junction hsa04520
3 Regulation of actin cytoskeleton hsa04810

Pathways related to Cat Eye Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes

GO Terms for Cat Eye Syndrome

Sources for Cat Eye 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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