MCID: CTY001
MIFTS: 43

Cat Eye Syndrome

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

Aliases & Classifications for Cat Eye Syndrome

MalaCards integrated aliases for Cat Eye Syndrome:

Name: Cat Eye Syndrome 54 50 24 29 13 69
Ces 50 24 56
Chromosome 22 Partial Tetrasomy 50 24
Schmid-Fraccaro Syndrome 50 24
Inv Dup(22)(q11) 50
Cat-Eye Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
cat-eye syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood,normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
cat eye syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cat Eye Syndrome

NIH Rare Diseases : 50 cat eye syndrome is a chromosome abnormality that affects many different parts of the body. the signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart and/or kidney. in people affected by cat eye syndrome, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. this extra genetic material leads to the characteristic signs and symptoms of the condition. most cases of cat eye syndrome occur sporadically in people with no family history of the condition. treatment is symptomatic. last updated: 4/13/2015

MalaCards based summary : Cat Eye Syndrome, also known as ces, is related to cauda equina syndrome and centripetalis recessive dystrophic epidermolysis bullosa, and has symptoms including short stature, hypertelorism and intrauterine growth retardation. An important gene associated with Cat Eye Syndrome is CECR (Cat Eye Syndrome Chromosome Region), and among its related pathways/superpathways is Regulation of Apoptosis by Parathyroid Hormone-related Protein. The drugs Anesthetics and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney.

OMIM : 54
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)

Wikipedia : 72 Cat eye syndrome (CES), or Schmid–Fraccaro syndrome, is a rare condition caused by the short arm (p) and... 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 23)
id Related Disease Score Top Affiliating Genes
1 cauda equina syndrome 11.3
2 centripetalis recessive dystrophic epidermolysis bullosa 10.8
3 neural tube defects 10.4
4 adnp syndrome 10.1 ADA2 IL17RA
5 cystic echinococcosis 9.8
6 echinococcosis 9.8
7 hypogonadism 9.7
8 hypogonadotropism 9.7
9 growth hormone deficiency 9.7
10 trisomy 22 9.7
11 hypogonadotropic hypogonadism 9.7
12 coloboma 9.7
13 teratoma 9.6
14 dystonia 9.6
15 mature teratoma 9.6
16 schizophrenia 9.6
17 hemifacial microsomia 9.6
18 ring chromosome 22 9.6
19 hepatitis 9.6
20 hydrocephalus 9.6
21 imperforate anus 9.6
22 hypothyroidism 9.6
23 kanzaki disease 3.9 ADA2 ATP6V1E1 BCL2L13 BID CD96 CECR

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:

54

Cardiovascular- Heart:
congenital heart defects
total anomalous pulmonary venous return

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

Head And Neck- Mouth:
cleft palate

Skeletal- Limbs:
radial aplasia

Growth- Height:
normal in majority of cases

Genitourinary- Internal Genitalia Female:
agenesis of uterus

Head And Neck- Eyes:
downslanting palpebral fissures
hypertelorism
coloboma of iris
microphthalmos
coloboma of choroid
more
Head And Neck- Face:
micrognathia

Genitourinary- Kidneys:
renal agenesis

Abdomen- Biliary Tract:
biliary atresia

Abdomen- Gastroin testinal:
malrotation of gut
anal atresia with fistula

Neurologic- Central Nervous System:
normal to mild mental retardation


Clinical features from OMIM:

115470

Human phenotypes related to Cat Eye Syndrome:

56 32 (show all 33)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
3 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
4 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
5 hydronephrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000126
6 iris coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000612
7 intellectual disability, mild 56 32 frequent (33%) Frequent (79-30%) HP:0001256
8 downslanted palpebral fissures 56 32 frequent (33%) Frequent (79-30%) HP:0000494
9 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
10 preauricular skin tag 56 32 hallmark (90%) Very frequent (99-80%) HP:0000384
11 hip dysplasia 56 32 frequent (33%) Frequent (79-30%) HP:0001385
12 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
13 anal atresia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002023
14 preauricular pit 56 32 hallmark (90%) Very frequent (99-80%) HP:0004467
15 chorioretinal coloboma 56 32 frequent (33%) Frequent (79-30%) HP:0000567
16 renal hypoplasia/aplasia 56 32 frequent (33%) Frequent (79-30%) HP:0008678
17 abnormality of the ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000772
18 abnormality of the genital system 56 32 occasional (7.5%) Occasional (29-5%) HP:0000078
19 abnormal localization of kidney 56 32 frequent (33%) Frequent (79-30%) HP:0100542
20 low-set ears 32 HP:0000369
21 micrognathia 32 HP:0000347
22 cleft palate 32 HP:0000175
23 intellectual disability 32 HP:0001249
24 renal agenesis 32 HP:0000104
25 intestinal malrotation 32 HP:0002566
26 biliary atresia 32 HP:0005912
27 absent radius 32 HP:0003974
28 total anomalous pulmonary venous return 32 HP:0005160
29 malformation of the heart and great vessels 56 Frequent (79-30%)
30 stenosis of the external auditory canal 32 HP:0000402
31 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
32 abnormal heart morphology 32 HP:0001627
33 growth abnormality 32 HP:0001507

Drugs & Therapeutics for Cat Eye Syndrome

Drugs for Cat Eye Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics
2 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Topical Infliximab in Autoimmune Eyes With Keratoprosthesis Withdrawn NCT02126020 Phase 1, Phase 2 topical infliximab
2 An Observational Study of Dry Eye Prior to Laser-Assisted in Situ Keratomileusis (LASIK) Therapy Completed NCT01854905
3 Evaluation of Dry Eye by Tear Film Imager in a Low Humidity Environmental Exposure Chamber (TFI-LH16) Completed NCT03061578
4 Effects of Osteopathic Treatment on Vestibular Disturbed Active Post Concussed Individual Completed NCT01962883
5 Intracranial Hypertension and Optic Nerve Sheath Diameter Completed NCT01796015
6 Efficacy of IPL Treatment of Dry Eye and Ocular Rosacea Enrolling by invitation NCT03194698

Search NIH Clinical Center for Cat Eye Syndrome

Genetic Tests for Cat Eye Syndrome

Genetic tests related to Cat Eye Syndrome:

id Genetic test Affiliating Genes
1 Cat Eye Syndrome 29 24

Anatomical Context for Cat Eye Syndrome

MalaCards organs/tissues related to Cat Eye Syndrome:

39
Eye, Heart, Kidney, Liver, Skin, Uterus, Retina

Publications for Cat Eye Syndrome

Articles related to Cat Eye Syndrome:

(show top 50) (show all 84)
id Title Authors Year
1
GNE-886: A Potent and Selective Inhibitor of the Cat Eye Syndrome Chromosome Region Candidate 2 Bromodomain (CECR2). ( 28740608 )
2017
2
MA1llerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review. ( 28919146 )
2017
3
Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: A family report. ( 26518262 )
2015
4
Quadricuspid aortic valve and anomalous systemic venous connection in a patient with cat-eye syndrome. ( 25825400 )
2015
5
Severe psychomotor delay in a severe presentation of cat-eye syndrome. ( 25648072 )
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
Cat eye syndrome, anorectal malformation, and Hirschsprung's disease. ( 24741221 )
2014
8
Cat eye syndrome. ( 24842361 )
2014
9
A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome. ( 24959203 )
2014
10
A severe prenatal presentation of Cat Eye Syndrome. ( 23982124 )
2013
11
Anatomical asplenia in cat eye syndrome: an expansion of the disease spectrum. ( 23691403 )
2013
12
Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature. ( 23928108 )
2013
13
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. ( 23794175 )
2013
14
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
15
A 600a88kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. ( 22395867 )
2012
16
Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype. ( 22495764 )
2012
17
Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family. ( 22890013 )
2012
18
An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature. ( 22730277 )
2012
19
A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma. ( 23112755 )
2012
20
Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. ( 20420025 )
2010
21
Clinical characteristics of a sample of patients with cat eye syndrome. ( 20835645 )
2010
22
Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. ( 21165297 )
2010
23
Interrupted aortic arch type B in A patient with cat eye syndrome. ( 19629279 )
2009
24
Trisomy 22pter-q12.3 presenting with hepatic dysfunction variability of cat-eye syndrome. ( 18955897 )
2009
25
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome. ( 18203172 )
2008
26
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome. ( 18553551 )
2008
27
Short-segment Hirschsprung's disease, cat eye syndrome, and anorectal malformation: a unique association. ( 17706516 )
2007
28
Cat eye syndrome associated with schizophrenia. ( 17327960 )
2007
29
Duane syndrome associated with the Cat Eye syndrome: a case report. ( 17001329 )
2007
30
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance. ( 16708226 )
2006
31
Duane's syndrome and 22 marker chromosome: a possible cat-eye syndrome. ( 17062489 )
2006
32
FISH approach to determine cat eye syndrome chromosome breakpoints of a patient with cat eye syndrome type II. ( 15953404 )
2005
33
Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism. ( 16293919 )
2005
34
Cat-eye syndrome in a fetus with increased nuchal translucency: three-dimensional ultrasound and echocardiographic evaluation of the fetal phenotype. ( 15343614 )
2004
35
A new case of a severe clinical phenotype of the cat-eye syndrome. ( 15658620 )
2004
36
Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndrome. ( 12746416 )
2003
37
Cloacal defect in a 23-year-old with 47,XXX karyotype and clinical features of Cat Eye syndrome. ( 12554278 )
2002
38
Bull's eye maculopathy in cat-eye syndrome. ( 11927860 )
2002
39
Phenotypic variability of the cat eye syndrome. Case report and review of the literature. ( 11693792 )
2001
40
Phenotypic variability of Cat-Eye syndrome. ( 11332976 )
2001
41
Anaesthetic management of Cat Eye Syndrome. ( 11696158 )
2001
42
Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. ( 11381032 )
2001
43
The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. ( 10756095 )
2000
44
A 1.5-Mb contig within the cat eye syndrome critical region at human chromosome 22q11.2. ( 10198173 )
1999
45
Cat eye syndrome with hypogonadotropic hypogonadism. ( 9840707 )
1998
46
The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6. ( 9721221 )
1998
47
Identification of a cat eye syndrome using DNA sequence dosage analysis. ( 8839885 )
1996
48
Cat eye syndrome and dystonia. ( 8771084 )
1996
49
Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region. ( 8973909 )
1996
50
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. ( 7668296 )
1995

Variations for Cat Eye Syndrome

ClinVar genetic disease variations for Cat Eye Syndrome:

6
id 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
id 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 GeneCards Suite gene sharing:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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