CES
MCID: CTY001
MIFTS: 45

Cat Eye Syndrome (CES)

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

Aliases & Classifications for Cat Eye Syndrome

MalaCards integrated aliases for Cat Eye Syndrome:

Name: Cat Eye Syndrome 57 73 20 29 13 6 70
Ces 57 20 58
Chromosome 22 Partial Tetrasomy 57 20
Schmid-Fraccaro Syndrome 57 20
Inv Dup(22)(q11) 57 20
Opitz Trigonocephaly Syndrome 70
Cat-Eye Syndrome 58
Cat Eye 6
Cess 17

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cat eye syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Cat Eye Syndrome

GARD : 20 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.

MalaCards based summary : Cat Eye Syndrome, also known as ces, is related to coloboma of iris and cauda equina syndrome, and has symptoms including seizures 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. Affiliated tissues include eye, heart and kidney, and related phenotypes are anal atresia and preauricular skin tag

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) (Updated 20-May-2021)

Wikipedia : 73 Cat eye syndrome or Schmid-Fraccaro syndrome, is a rare condition caused by the short arm (p) and a... 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 169)
# Related Disease Score Top Affiliating Genes
1 coloboma of iris 29.2 TMEM67 TFAP2A PRR12
2 cauda equina syndrome 11.5
3 retinoblastoma 11.0
4 coloboma of macula 10.6
5 chromosomal triplication 10.4
6 mental depression 10.4
7 depression 10.4
8 sarcoma 10.4
9 spindle cell sarcoma 10.4
10 major depressive disorder 10.3
11 ewing sarcoma 10.3
12 skin tag 10.3
13 pulmonary venous return anomaly 10.2
14 48,xyyy 10.2
15 hypertelorism 10.2
16 digeorge syndrome 10.2
17 trisomy 22 10.2
18 dysthymic disorder 10.2
19 severe combined immunodeficiency 10.2
20 anus, imperforate 10.2
21 microphthalmia 10.2
22 ewing sarcoma of bone 10.1
23 neural tube defects 10.1
24 strabismus 10.1
25 patent ductus arteriosus 1 10.1
26 microcephaly 10.1
27 biliary atresia 10.1
28 mechanical strabismus 10.1
29 aortic arch interruption 10.1
30 microtia 10.1
31 scleroderma, familial progressive 10.0
32 mood disorder 10.0
33 duane retraction syndrome 1 10.0
34 hemifacial microsomia 10.0
35 retinitis pigmentosa 11 10.0
36 alacrima, achalasia, and mental retardation syndrome 10.0
37 hypogonadotropic hypogonadism 10.0
38 heart septal defect 10.0
39 hypogonadism 10.0
40 growth hormone deficiency 10.0
41 hypotonia 10.0
42 argyria 10.0
43 spondyloarthropathy 1 9.9
44 hair whorl 9.9
45 hypercholesterolemia, familial, 1 9.9
46 anxiety 9.9
47 physical disorder 9.9
48 inflammatory spondylopathy 9.9
49 generalized anxiety disorder 9.9
50 post-traumatic stress disorder 9.9

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:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
2 preauricular skin tag 58 31 hallmark (90%) Very frequent (99-80%) HP:0000384
3 preauricular pit 58 31 hallmark (90%) Very frequent (99-80%) HP:0004467
4 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
5 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
6 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
7 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
8 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
9 renal hypoplasia/aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0008678
10 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
11 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
12 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
13 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
14 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
15 abnormal localization of kidney 58 31 frequent (33%) Frequent (79-30%) HP:0100542
16 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
17 hypotonia 31 frequent (33%) HP:0001252
18 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
19 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
20 abnormality of the genital system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000078
21 intellectual disability 31 HP:0001249
22 muscular hypotonia 58 Frequent (79-30%)
23 malformation of the heart and great vessels 58 Frequent (79-30%)
24 cleft palate 31 HP:0000175
25 micrognathia 31 HP:0000347
26 low-set ears 31 HP:0000369
27 intestinal malrotation 31 HP:0002566
28 stenosis of the external auditory canal 31 HP:0000402
29 abnormal heart morphology 31 HP:0001627
30 absent radius 31 HP:0003974
31 renal agenesis 31 HP:0000104
32 biliary atresia 31 HP:0005912
33 total anomalous pulmonary venous return 31 HP:0005160
34 growth abnormality 31 HP:0001507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
coloboma of iris
coloboma of choroid
coloboma of retina
more
Head And Neck Face:
micrognathia

Genitourinary Kidneys:
renal agenesis

Cardiovascular Heart:
total anomalous pulmonary venous return
congenital heart defects

Abdomen Gastrointestinal:
malrotation of gut
anal atresia with fistula

Skeletal Limbs:
radial aplasia

Head And Neck Mouth:
cleft palate

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

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 (Updated 20-May-2021)

UMLS symptoms related to Cat Eye Syndrome:


seizures

Drugs & Therapeutics for Cat Eye Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Interactive Video Game Cycling on Obese Adolescent Health Completed NCT00983970 Phase 4
2 A Clinical Feasibility Study to Evaluate the Safety and Performance of Low-Energy Therapy in Patients With Atrial Fibrillation Energy Therapy in Patients With Atrial Fibrillation Recruiting NCT04206917 Phase 1
3 Stress Reduction for Caregivers: A Randomized Controlled Pilot Study Completed NCT00615082
4 An International Clinical Feasibility Study to Evaluate the Safety and Performance of Low-Energy Unpinning Termination Therapy in Patients With VT/VF Recruiting NCT03871231

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

Anatomical Context for Cat Eye Syndrome

MalaCards organs/tissues related to Cat Eye Syndrome:

40
Eye, Heart, Kidney, Brain, Retina, Liver, Uterus

Publications for Cat Eye Syndrome

Articles related to Cat Eye Syndrome:

(show top 50) (show all 235)
# Title Authors PMID Year
1
A new case of a severe clinical phenotype of the cat-eye syndrome. 57 61
15658620 2004
2
Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11. 61 57
12483300 2003
3
Phenotypic variability of the cat eye syndrome. Case report and review of the literature. 57 61
11693792 2001
4
Cat eye syndrome chromosome breakpoint clustering: identification of two intervals also associated with 22q11 deletion syndrome breakpoints. 57 61
9730608 1998
5
Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region. 57 61
8973909 1996
6
Absence of lambda immunoglobulin sequences on the supernumerary chromosome of the "cat eye" syndrome. 61 57
8533831 1995
7
Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region. 61 57
7668296 1995
8
Molecular characterization of the marker chromosome associated with cat eye syndrome. 61 57
7912885 1994
9
Cytogenetic characterization of cat eye syndrome marker chromosome. 61 57
8010712 1994
10
Typical and partial cat eye syndrome: identification of the marker chromosome by FISH. 61 57
1424237 1992
11
Cat eye syndrome associated with aganglionosis of the small and large intestine. 57 61
2585462 1989
12
A hereditary bisatellite-dicentric supernumerary chromosome in a case of cat-eye syndrome. 61 57
2793513 1989
13
Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis. 61 57
3344779 1988
14
Cat-eye syndrome with different marker chromosomes in a mother and daughter. 57 61
3105314 1987
15
Inverted duplication of 22pter----q11.21 in cat-eye syndrome. 61 57
3728573 1986
16
Characterization of the supernumerary chromosome in cat eye syndrome. 57 61
3961499 1986
17
Marker chromosome in cat eye syndrome. 61 57
3859394 1985
18
Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature. 57 61
6504608 1984
19
The aetiology of the cat eye syndrome reconsidered. 57 61
7241528 1981
20
The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. 61 57
6785205 1981
21
Silver staining of the supernumerary chromosome in the cat-eye syndrome. 61 57
6156636 1980
22
Further delineation of the supernumerary chromosome in the Cat-Eye syndrome. 57 61
412629 1977
23
[Cat eye syndrome: chromosome study and genetic counseling]. 61 57
1025280 1976
24
The cat eye syndrome. 61 57
4212393 1974
25
Case report. The cat-eye syndrome with unusual skeletal malformations. 57 61
4850902 1974
26
The cat-eye syndrome. Review and two further cases occurring in female siblings with normal chromosomes. 61 57
4626468 1972
27
A newborn with the cat-eye syndrome. 57 61
5082091 1972
28
Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations. 57
9931328 1999
29
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. 57
9215666 1997
30
Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22. 57
8279492 1993
31
Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22. 57
1680800 1991
32
Mapping of human chromosome 22 with a panel of somatic cell hybrids. 57
2037296 1991
33
Mapping of human chromosome 22 by in situ hybridization. 57
2365353 1990
34
A bisatellited marker chromosome in an infant with the caudal regression anomalad. 57
6937274 1981
35
Malformation syndrome associated with small extra chromosome. 57
7395896 1980
36
Partial trisomy 13 associated with cleft lip and cleft palate. 57
267526 1977
37
Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. 57
1277571 1976
38
Ribosomal DNA sites in a metacentric chromosome fragment. 57
4847727 1974
39
[Potter syndrome (kidney agenesis) with chromosome abnormalities in the patient and mosaicism in the father]. 57
5139247 1971
40
Genetic counseling. Secondary nondisjunction in partial trisomy 13. 57
5101218 1971
41
Anal atresia, eye anomalies, and an additional small abnormal acrocentric chromosome (47,XX,mar+): report of a case. 57
5420796 1970
42
Ocular abnormality associated with extra small autosome. 57
4967955 1968
43
CHROMOSOMES IN COLOBOMA AND ANAL ATRESIA. 57
14330081 1965
44
An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome. 61
33552636 2021
45
Cecr2 mutant mice as a model for human cat eye syndrome. 61
33542446 2021
46
Mosaic cat eye syndrome in a child with unilateral iris coloboma. 61
33465332 2021
47
Cardiac-associated biliary atresia (CABA): a prognostic subgroup. 61
32690577 2021
48
A De Novo sSMC (22) Characterized by High-Resolution Chromosome Microarray Analysis in a Chinese Boy with Cat-Eye Syndrome. 61
33728075 2021
49
The same mutation in a family with adenosine deaminase 2 deficiency. 61
31541281 2021
50
Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst. 61
32865081 2020

Variations for Cat Eye Syndrome

ClinVar genetic disease variations for Cat Eye Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 15 genes GRCh37/hg19 22q11.1-11.21(chr22:17450514-18636846)x3 copy number gain Pathogenic 396406 GRCh37: 22:17450514-18636846
GRCh38:
2 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs) Deletion Pathogenic 523459 rs1554110735 GRCh37: 6:10398926-10398927
GRCh38: 6:10398693-10398694
3 overlap with 126 genes GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Pathogenic 981206 GRCh37: 22:16888899-26483608
GRCh38:
4 overlap with 7 genes GRCh37/hg19 22q11.1-11.21(chr22:17289827-17938918) copy number gain Pathogenic 625581 GRCh37: 22:17289827-17938918
GRCh38:
5 TMEM67 NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) SNV Pathogenic 506012 rs765468645 GRCh37: 8:94777641-94777641
GRCh38: 8:93765413-93765413
6 PRR12 NM_020719.3(PRR12):c.903_909dup (p.Pro304fs) Duplication Pathogenic 446256 rs1555740394 GRCh37: 19:50098491-50098492
GRCh38: 19:49595234-49595235
7 PRR12 NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs) Deletion Pathogenic 446255 rs1555741826 GRCh37: 19:50104903-50104906
GRCh38: 19:49601646-49601649
8 PRR12 NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter) SNV Pathogenic 446254 rs1555740650 GRCh37: 19:50099510-50099510
GRCh38: 19:49596253-49596253
9 TMEM67 NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3]) Duplication Likely pathogenic 523562 rs1554558365 GRCh37: 8:94817079-94817080
GRCh38: 8:93804851-93804852

Copy number variations for Cat Eye Syndrome from CNVD:

7
# CNVD ID Chromosome 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:

# 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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