CSYN
MCID: CTY001
MIFTS: 49

Cat Eye Syndrome (CSYN)

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

Aliases & Classifications for Cat Eye Syndrome

MalaCards integrated aliases for Cat Eye Syndrome:

Name: Cat Eye Syndrome 57 76 53 29 13 73
C Syndrome 57 76 53 59 75 37 29 13 6 40
Opitz Trigonocephaly Syndrome 57 53 59 75 73
Trigonocephaly 76 37 29 55
Trigonocephaly Syndrome 57 53 75
Ces 57 53 59
Chromosome 22 Partial Tetrasomy 57 53
Trigonocephaly C Syndrome 53 59
Schmid-Fraccaro Syndrome 57 53
Inv Dup(22)(q11) 57 53
Opitz Trigonocephaly C Syndrome 59
Opitz C Trigonocephaly 59
Cat-Eye Syndrome 59
Otcs 59
Csyn 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant


HPO:

32
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 : 53 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 hypertelorism and short neck

OMIM : 57 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 : 75 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 : 76 Trigonocephaly (from Greek trigonon, \"triangle\", and kephale, \"head\") is a congenital condition of... more...

Related Diseases for Cat Eye Syndrome

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 trigonocephaly 2 12.3
2 trigonocephaly 1 12.3
3 ornithine transcarbamylase deficiency, hyperammonemia due to 12.1
4 trigonocephaly with short stature and developmental delay 12.1
5 isolated trigonocephaly 12.0
6 cauda equina syndrome 11.8
7 centripetalis recessive dystrophic epidermolysis bullosa 10.9
8 bohring-opitz syndrome 10.7
9 neural tube defects 10.6
10 depression 10.3
11 adenosine deaminase 2 deficiency 10.0 ADA2 IL17RA
12 limb reduction defect 10.0
13 allergic rhinitis 9.9
14 vaginitis 9.9
15 rhinitis 9.9
16 encephalopathy 9.9
17 ovarian cancer 9.9
18 cystic echinococcosis 9.9
19 echinococcosis 9.9
20 spondyloarthropathy 1 9.8
21 scleroderma, familial progressive 9.8
22 hypogonadotropic hypogonadism 9.8
23 hypogonadism 9.8
24 hypogonadotropism 9.8
25 growth hormone deficiency 9.8
26 trisomy 22 9.8
27 retinitis pigmentosa 9.7
28 propionic acidemia 9.7
29 velocardiofacial syndrome 9.7 CECR2 CECR7 GNB1L
30 duane retraction syndrome 1 9.6
31 hypogonadotropic hypogonadism 7 with or without anosmia 9.6
32 macular dystrophy, concentric annular 9.6
33 hemifacial microsomia 9.6
34 schizophrenia 9.6
35 hepatitis 9.6
36 hydrocephalus 9.6
37 teratoma 9.6
38 dystonia 9.6
39 mature teratoma 9.6
40 isolated gonadotropin-releasing hormone deficiency 9.6
41 ring chromosome 22 9.6
42 argyria 9.6
43 diabetes mellitus, noninsulin-dependent 9.3
44 medulloblastoma 9.3
45 dermatitis, atopic 9.3
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.3
47 pseudohypoaldosteronism 9.3
48 omphalocele 9.3
49 dermatitis 9.3
50 chromosome 4q deletion 9.3

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



Diseases related to Cat Eye Syndrome

Symptoms & Phenotypes for Cat Eye Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cat Eye Syndrome:

59 32 (show top 50) (show all 104)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
4 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
7 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001252
8 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
9 gingival overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000212
10 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
11 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
12 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
13 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
14 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
15 smooth philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000319
16 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
17 short stature 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004322
18 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
19 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
20 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
21 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
22 aplasia/hypoplasia of the abdominal wall musculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0010318
23 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
24 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
25 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
26 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
27 biparietal narrowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0004422
28 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
29 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
30 failure to thrive in infancy 59 32 frequent (33%) Frequent (79-30%) HP:0001531
31 horseshoe kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000085
32 renal hypoplasia/aplasia 59 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0008678
33 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
34 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
35 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
36 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
37 multicystic kidney dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000003
38 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
39 hypoplasia of the ear cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0100720
40 downslanted palpebral fissures 59 32 frequent (33%) Frequent (79-30%) HP:0000494
41 upslanted palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000582
42 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
43 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
44 polyhydramnios 59 32 occasional (7.5%) Occasional (29-5%) HP:0001561
45 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
46 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
47 abnormal hair pattern 59 32 occasional (7.5%) Occasional (29-5%) HP:0010720
48 sacral dimple 59 32 frequent (33%) Frequent (79-30%) HP:0000960
49 redundant skin 59 32 frequent (33%) Frequent (79-30%) HP:0001582
50 female pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0010458

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 Terminated 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 29
2 C Syndrome 29 CD96
3 Trigonocephaly 29

Anatomical Context for Cat Eye Syndrome

MalaCards organs/tissues related to Cat Eye Syndrome:

41
Eye, Skin, Heart, Bone, Kidney, Uterus, Retina

Publications for Cat Eye Syndrome

Articles related to Cat Eye Syndrome:

(show top 50) (show all 105)
# Title Authors Year
1
MA1llerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review. ( 28919146 )
2017
2
GNE-886: A Potent and Selective Inhibitor of the Cat Eye Syndrome Chromosome Region Candidate 2 Bromodomain (CECR2). ( 28740608 )
2017
3
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. ( 27874174 )
2016
4
Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: A family report. ( 26518262 )
2015
5
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. ( 26347037 )
2015
6
Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region. ( 25681963 )
2015
7
Quadricuspid aortic valve and anomalous systemic venous connection in a patient with cat-eye syndrome. ( 25825400 )
2015
8
Severe psychomotor delay in a severe presentation of cat-eye syndrome. ( 25648072 )
2015
9
Cat eye syndrome, anorectal malformation, and Hirschsprung's disease. ( 24741221 )
2014
10
A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. ( 24959203 )
2014
11
Cat eye syndrome. ( 24842361 )
2014
12
A severe prenatal presentation of Cat Eye Syndrome. ( 23982124 )
2013
13
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. ( 23794175 )
2013
14
Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature. ( 23928108 )
2013
15
Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum. ( 23691403 )
2013
16
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
17
A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma. ( 23112755 )
2012
18
An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature. ( 22730277 )
2012
19
A 600a88kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. ( 22395867 )
2012
20
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype. ( 22495764 )
2012
21
Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family. ( 22890013 )
2012
22
Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. ( 21165297 )
2010
23
Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. ( 20420025 )
2010
24
Clinical characteristics of a sample of patients with cat eye syndrome. ( 20835645 )
2010
25
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). ( 20583299 )
2010
26
Interrupted aortic arch type B in A patient with cat eye syndrome. ( 19629279 )
2009
27
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion. ( 19449408 )
2009
28
Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome. ( 18955897 )
2009
29
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome. ( 18203172 )
2008
30
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome. ( 18553551 )
2008
31
Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association. ( 17706516 )
2007
32
Cat eye syndrome associated with schizophrenia. ( 17327960 )
2007
33
Interdisciplinary rehabilitation of a patient with Opitz C-syndrome and extensive craniofacial malformation. ( 17414277 )
2007
34
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. ( 17397050 )
2007
35
Duane syndrome associated with the Cat Eye syndrome: a case report. ( 17001329 )
2007
36
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). ( 16835930 )
2006
37
Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome. ( 17062489 )
2006
38
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance. ( 16708226 )
2006
39
Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). ( 17033958 )
2006
40
Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism. ( 16293919 )
2005
41
FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II. ( 15953404 )
2005
42
Partial trisomy 13 with features similar to C syndrome. ( 15235171 )
2004
43
A new case of a severe clinical phenotype of the cat-eye syndrome. ( 15658620 )
2004
44
Cat-eye syndrome in a fetus with increased nuchal translucency: three-dimensional ultrasound and echocardiographic evaluation of the fetal phenotype. ( 15343614 )
2004
45
Opitz trigonocephaly C syndrome associated with hearing loss. ( 14651551 )
2003
46
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. ( 12746416 )
2003
47
Bull's eye maculopathy in cat-eye syndrome. ( 11927860 )
2002
48
Cloacal defect in a 23-year-old with 47,XXX karyotype and clinical features of Cat Eye syndrome. ( 12554278 )
2002
49
Phenotypic variability of the cat eye syndrome. Case report and review of the literature. ( 11693792 )
2001
50
Anaesthetic management of Cat Eye Syndrome. ( 11696158 )
2001

Variations for Cat Eye Syndrome

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

75
# 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 165)
# Gene Variation Type Significance SNP ID Assembly Location
1 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
2 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209
3 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh38 Chromosome 3, 111585362: 111585362
4 CD96 NM_005816.4(CD96): c.54dupT (p.Val19Cysfs) duplication Uncertain significance rs200703204 GRCh37 Chromosome 3, 111261149: 111261149
5 CD96 NM_005816.4(CD96): c.54dupT (p.Val19Cysfs) duplication Uncertain significance rs200703204 GRCh38 Chromosome 3, 111542302: 111542302
6 CD96 NM_198196.2(CD96): c.-121C> T single nucleotide variant Benign rs2276873 GRCh38 Chromosome 3, 111542128: 111542128
7 CD96 NM_198196.2(CD96): c.-121C> T single nucleotide variant Benign rs2276873 GRCh37 Chromosome 3, 111260975: 111260975
8 CD96 NM_198196.2(CD96): c.-115G> A single nucleotide variant Uncertain significance rs886057763 GRCh37 Chromosome 3, 111260981: 111260981
9 CD96 NM_198196.2(CD96): c.-115G> A single nucleotide variant Uncertain significance rs886057763 GRCh38 Chromosome 3, 111542134: 111542134
10 CD96 NM_198196.2(CD96): c.424G> C (p.Ala142Pro) single nucleotide variant Benign rs2276872 GRCh38 Chromosome 3, 111567528: 111567528
11 CD96 NM_198196.2(CD96): c.424G> C (p.Ala142Pro) single nucleotide variant Benign rs2276872 GRCh37 Chromosome 3, 111286375: 111286375
12 CD96 NM_198196.2(CD96): c.626A> C (p.Gln209Pro) single nucleotide variant Likely benign rs61733706 GRCh38 Chromosome 3, 111579061: 111579061
13 CD96 NM_198196.2(CD96): c.626A> C (p.Gln209Pro) single nucleotide variant Likely benign rs61733706 GRCh37 Chromosome 3, 111297908: 111297908
14 CD96 NM_198196.2(CD96): c.634C> T (p.Leu212Phe) single nucleotide variant Likely benign rs149101142 GRCh38 Chromosome 3, 111579069: 111579069
15 CD96 NM_198196.2(CD96): c.634C> T (p.Leu212Phe) single nucleotide variant Likely benign rs149101142 GRCh37 Chromosome 3, 111297916: 111297916
16 CD96 NM_198196.2(CD96): c.983A> G (p.Asp328Gly) single nucleotide variant Uncertain significance rs886057765 GRCh37 Chromosome 3, 111319609: 111319609
17 CD96 NM_198196.2(CD96): c.983A> G (p.Asp328Gly) single nucleotide variant Uncertain significance rs886057765 GRCh38 Chromosome 3, 111600762: 111600762
18 CD96 NM_198196.2(CD96): c.1014A> G (p.Thr338=) single nucleotide variant Benign rs145863419 GRCh38 Chromosome 3, 111600793: 111600793
19 CD96 NM_198196.2(CD96): c.1014A> G (p.Thr338=) single nucleotide variant Benign rs145863419 GRCh37 Chromosome 3, 111319640: 111319640
20 CD96 NM_198196.2(CD96): c.1214G> A (p.Ser405Asn) single nucleotide variant Likely benign rs138396447 GRCh38 Chromosome 3, 111606778: 111606778
21 CD96 NM_198196.2(CD96): c.1214G> A (p.Ser405Asn) single nucleotide variant Likely benign rs138396447 GRCh37 Chromosome 3, 111325625: 111325625
22 CD96 NM_198196.2(CD96): c.1229-1G> A single nucleotide variant Likely benign rs77738677 GRCh37 Chromosome 3, 111342600: 111342600
23 CD96 NM_198196.2(CD96): c.1229-1G> A single nucleotide variant Likely benign rs77738677 GRCh38 Chromosome 3, 111623753: 111623753
24 CD96 NM_198196.2(CD96): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs886057766 GRCh37 Chromosome 3, 111342664: 111342664
25 CD96 NM_198196.2(CD96): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs886057766 GRCh38 Chromosome 3, 111623817: 111623817
26 CD96 NM_198196.2(CD96): c.1295A> T (p.Gln432Leu) single nucleotide variant Likely benign rs148659928 GRCh37 Chromosome 3, 111342667: 111342667
27 CD96 NM_198196.2(CD96): c.1295A> T (p.Gln432Leu) single nucleotide variant Likely benign rs148659928 GRCh38 Chromosome 3, 111623820: 111623820
28 CD96 NM_198196.2(CD96): c.1410G> C (p.Pro470=) single nucleotide variant Benign rs1533270 GRCh37 Chromosome 3, 111356083: 111356083
29 CD96 NM_198196.2(CD96): c.1410G> C (p.Pro470=) single nucleotide variant Benign rs1533270 GRCh38 Chromosome 3, 111637236: 111637236
30 CD96 NM_198196.2(CD96): c.1499C> T (p.Thr500Met) single nucleotide variant Likely benign rs140955483 GRCh37 Chromosome 3, 111356989: 111356989
31 CD96 NM_198196.2(CD96): c.1499C> T (p.Thr500Met) single nucleotide variant Likely benign rs140955483 GRCh38 Chromosome 3, 111638142: 111638142
32 CD96 NM_198196.2(CD96): c.*143C> A single nucleotide variant Uncertain significance rs886057769 GRCh37 Chromosome 3, 111368796: 111368796
33 CD96 NM_198196.2(CD96): c.*143C> A single nucleotide variant Uncertain significance rs886057769 GRCh38 Chromosome 3, 111649949: 111649949
34 CD96 NM_198196.2(CD96): c.*172G> T single nucleotide variant Uncertain significance rs886057770 GRCh38 Chromosome 3, 111649978: 111649978
35 CD96 NM_198196.2(CD96): c.*172G> T single nucleotide variant Uncertain significance rs886057770 GRCh37 Chromosome 3, 111368825: 111368825
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 GRCh37 Chromosome 3, 111370192: 111370192
43 CD96 NM_198196.2(CD96): c.*1539G> T single nucleotide variant Benign rs6763322 GRCh38 Chromosome 3, 111651345: 111651345
44 CD96 NM_198196.2(CD96): c.*1815G> A single nucleotide variant Likely benign rs146712540 GRCh37 Chromosome 3, 111370468: 111370468
45 CD96 NM_198196.2(CD96): c.*1815G> A single nucleotide variant Likely benign rs146712540 GRCh38 Chromosome 3, 111651621: 111651621
46 CD96 NM_198196.2(CD96): c.*1843G> A single nucleotide variant Uncertain significance rs886057781 GRCh37 Chromosome 3, 111370496: 111370496
47 CD96 NM_198196.2(CD96): c.*1843G> A single nucleotide variant Uncertain significance rs886057781 GRCh38 Chromosome 3, 111651649: 111651649
48 CD96 NM_198196.2(CD96): c.*2090A> G single nucleotide variant Uncertain significance rs868287764 GRCh37 Chromosome 3, 111370743: 111370743
49 CD96 NM_198196.2(CD96): c.*2090A> G single nucleotide variant Uncertain significance rs868287764 GRCh38 Chromosome 3, 111651896: 111651896
50 CD96 NM_198196.2(CD96): c.*2092_*2093insGAAAGAA insertion Uncertain significance rs886057785 GRCh37 Chromosome 3, 111370745: 111370746

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:

37
# 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 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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