MCID: CTY001
MIFTS: 49

Cat Eye Syndrome

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 53 72 49 28 13 69
C Syndrome 53 72 49 55 71 36 28 13
Opitz Trigonocephaly Syndrome 53 49 55 71 69
Trigonocephaly 72 36 28 51
Trigonocephaly Syndrome 53 49 71
Ces 53 49 55
Chromosome 22 Partial Tetrasomy 53 49
Trigonocephaly C Syndrome 49 55
Schmid-Fraccaro Syndrome 53 49
Inv Dup(22)(q11) 53 49
Opitz Trigonocephaly C Syndrome 55
Opitz C Trigonocephaly 55
Cat-Eye Syndrome 55
Otcs 55
Csyn 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant


HPO:

31
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 : 49 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.   Last updated: 6/19/2014

MalaCards based summary : Cat Eye Syndrome, also known as c syndrome, is related to trigonocephaly 2 and trigonocephaly 1, and has symptoms including constipation, seizures and hypertelorism. 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.

OMIM : 53 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 : 71 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 : 72 Trigonocephaly (Greek: \'trigonon\' = triangle, \'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 47)
# Related Disease Score Top Affiliating Genes
1 trigonocephaly 2 12.3
2 trigonocephaly 1 12.3
3 ornithine transcarbamylase deficiency, hyperammonemia due to 12.2
4 isolated trigonocephaly 12.0
5 cauda equina syndrome 11.3
6 centripetalis recessive dystrophic epidermolysis bullosa 10.9
7 bohring-opitz syndrome 10.7
8 neural tube defects 10.6
9 adenosine deaminase 2 deficiency 10.1 ADA2 IL17RA
10 velocardiofacial syndrome 10.0 CECR2 CECR7 GNB1L
11 allergic rhinitis 9.9
12 carbonic anhydrase va deficiency, hyperammonemia due to 9.9
13 vaginitis 9.9
14 rhinitis 9.9
15 encephalopathy 9.9
16 cystic echinococcosis 9.9
17 echinococcosis 9.9
18 coloboma of macula 9.8
19 hypogonadotropic hypogonadism 9.8
20 hypogonadism 9.8
21 hypogonadotropism 9.8
22 growth hormone deficiency 9.8
23 trisomy 22 9.8
24 ovarian cancer 9.8
25 duane retraction syndrome 1 9.6
26 hypogonadotropic hypogonadism 7 with or without anosmia 9.6
27 hemifacial microsomia 9.6
28 schizophrenia 9.6
29 anus, imperforate 9.6
30 hepatitis 9.6
31 hydrocephalus 9.6
32 hypothyroidism 9.6
33 teratoma 9.6
34 dystonia 9.6
35 mature teratoma 9.6
36 ring chromosome 22 9.6
37 xp22.13p22.2 duplication syndrome 9.6
38 xq12-q13.3 duplication syndrome 9.6
39 mucopolysaccharidosis-plus syndrome 9.5
40 crouzon syndrome 9.4 CD96 FGFR1
41 medulloblastoma 9.3
42 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.3
43 pseudohypoaldosteronism 9.3
44 brachydactyly 9.3
45 omphalocele 9.3
46 ciliopathy 9.3
47 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:

53
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 Gastroin testinal:
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:

55 31 (show top 50) (show all 103)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
2 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
3 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
4 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
5 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
6 high palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000218
7 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
8 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001252
9 gingival overgrowth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000212
10 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
11 hip dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001385
12 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
13 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
14 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
15 smooth philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000319
16 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
17 short stature 55 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004322
18 intellectual disability, mild 55 31 frequent (33%) Frequent (79-30%) HP:0001256
19 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
20 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
21 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
22 aplasia/hypoplasia of the abdominal wall musculature 55 31 occasional (7.5%) Occasional (29-5%) HP:0010318
23 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
24 micromelia 55 31 frequent (33%) Frequent (79-30%) HP:0002983
25 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
26 limitation of joint mobility 55 31 frequent (33%) Frequent (79-30%) HP:0001376
27 biparietal narrowing 55 31 hallmark (90%) Very frequent (99-80%) HP:0004422
28 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
29 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
30 failure to thrive in infancy 55 31 frequent (33%) Frequent (79-30%) HP:0001531
31 horseshoe kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000085
32 renal hypoplasia/aplasia 55 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0008678
33 abnormality of immune system physiology 55 31 frequent (33%) Frequent (79-30%) HP:0010978
34 chorioretinal coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000567
35 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
36 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
37 multicystic kidney dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000003
38 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
39 hypoplasia of the ear cartilage 55 31 hallmark (90%) Very frequent (99-80%) HP:0100720
40 downslanted palpebral fissures 55 31 frequent (33%) Frequent (79-30%) HP:0000494
41 upslanted palpebral fissure 55 31 hallmark (90%) Very frequent (99-80%) HP:0000582
42 anal atresia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002023
43 bilateral single transverse palmar creases 55 31 frequent (33%) Frequent (79-30%) HP:0007598
44 polyhydramnios 55 31 occasional (7.5%) Occasional (29-5%) HP:0001561
45 hand polydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001161
46 abnormality of the ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000772
47 abnormal hair pattern 55 31 occasional (7.5%) Occasional (29-5%) HP:0010720
48 sacral dimple 55 31 frequent (33%) Frequent (79-30%) HP:0000960
49 redundant skin 55 31 frequent (33%) Frequent (79-30%) HP:0001582
50 female pseudohermaphroditism 55 31 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 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 28
2 C Syndrome 28 CD96
3 Trigonocephaly 28

Anatomical Context for Cat Eye Syndrome

MalaCards organs/tissues related to Cat Eye Syndrome:

38
Eye, Skin, Heart, Bone, Kidney, Retina, Uterus

Publications for Cat Eye Syndrome

Articles related to Cat Eye Syndrome:

(show top 50) (show all 102)
# 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
Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region. ( 25681963 )
2015
6
Severe psychomotor delay in a severe presentation of cat-eye syndrome. ( 25648072 )
2015
7
Quadricuspid aortic valve and anomalous systemic venous connection in a patient with cat-eye syndrome. ( 25825400 )
2015
8
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. ( 26347037 )
2015
9
A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. ( 24959203 )
2014
10
Cat eye syndrome. ( 24842361 )
2014
11
Cat eye syndrome, anorectal malformation, and Hirschsprung's disease. ( 24741221 )
2014
12
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
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
A severe prenatal presentation of Cat Eye Syndrome. ( 23982124 )
2013
17
A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma. ( 23112755 )
2012
18
Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family. ( 22890013 )
2012
19
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype. ( 22495764 )
2012
20
A 600a88kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. ( 22395867 )
2012
21
An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature. ( 22730277 )
2012
22
Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. ( 20420025 )
2010
23
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). ( 20583299 )
2010
24
Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. ( 21165297 )
2010
25
Clinical characteristics of a sample of patients with cat eye syndrome. ( 20835645 )
2010
26
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion. ( 19449408 )
2009
27
Interrupted aortic arch type B in A patient with cat eye syndrome. ( 19629279 )
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
Cat eye syndrome associated with schizophrenia. ( 17327960 )
2007
32
Interdisciplinary rehabilitation of a patient with Opitz C-syndrome and extensive craniofacial malformation. ( 17414277 )
2007
33
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. ( 17397050 )
2007
34
Duane syndrome associated with the Cat Eye syndrome: a case report. ( 17001329 )
2007
35
Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association. ( 17706516 )
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
Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). ( 17033958 )
2006
38
Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome. ( 17062489 )
2006
39
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance. ( 16708226 )
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
A new case of a severe clinical phenotype of the cat-eye syndrome. ( 15658620 )
2004
43
Partial trisomy 13 with features similar to C syndrome. ( 15235171 )
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
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. ( 12746416 )
2003
46
Opitz trigonocephaly C syndrome associated with hearing loss. ( 14651551 )
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:

71
# Symbol AA change Variation ID SNP ID
1 CD96 p.Thr280Met VAR_037578 rs119477056

ClinVar genetic disease variations for Cat Eye Syndrome:

6
# 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

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:

36
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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