Cat-eye syndrome

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.

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Narrow down the case reports

Total: 46 (papers)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
20 (4.0%)	28919146	Mullerian Agenesis in Cat Eye Syndrome and 22q11 Chromosome Abnormalities: A Case Report and Literature Review. AlSubaihin A, VanderMeulen J, Harris K, Duck J, McCready E. J Pediatr Adolesc Gynecol. 2018;31(2):158-161. [ Show abstract ] [ Hide abstract ]
		Primary amenorrhea
		CECR

		46, XX Disorders of Sex Development Aneuploidy Chromosome Aberrations Chromosomes, Human, Pair 22 Congenital Abnormality Eye Abnormalities Females Homo sapiens Magnetic Resonance Imaging Microarray Analysis
20 (4.0%)	28024309	Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency. Elbracht M, Mull M, Wagner N, Kuhl C, Abicht A, Kurth I, Tenbrock K, Hausler M. Neuropediatrics. 2017;48(2):111-114. [ Show abstract ] [ Hide abstract ]
		Stroke
		ADA2

		Brain Brain Ischemia Differential Diagnosis Hand Homo sapiens Infant Inflammation Intercellular Signaling Peptides and Proteins Leg Male Missense Mutation
20 (4.0%)	27059682	Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases. Nanthapisal S, Murphy C, Omoyinmi E, Hong Y, Standing A, Berg S, Ekelund M, Jolles S, Harper L, Youngstein T, Gilmour K, Klein NJ, Eleftheriou D, Brogan PA. Arthritis Rheumatol. 2016;68(9):2314-22. [ Show abstract ] [ Hide abstract ]
		Immunodeficiency
		ADA2 TNF

		Adult Child Child, Preschool Females Genotype Homo sapiens Inborn Errors of Metabolism Intercellular Signaling Peptides and Proteins Male Phenotype Young Adult
20 (4.0%)	26518262	Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report. Jedraszak G, Braun K, Receveur A, Decamp M, Andrieux J, Rabbind Singh A, Copin H, Bremond-Gignac D, Mathieu M, Rochette J, Morin G. Ann Endocrinol (Paris). 2015;76(5):629-34. [ Show abstract ] [ Hide abstract ]
		Decreased response to growth hormone stimuation test
		GH1

		Aneuploidy Chromosome Aberrations Chromosomes, Human, Pair 22 Eye Abnormalities Fluorescent in Situ Hybridization Homo sapiens Human Growth Hormone Infant, Newborn Male Pituitary Gland
20 (4.0%)	23928108	Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature. Melo C, Gama-de-Sousa S, Almeida F, Rendeiro P, Tavares P, Cardoso H, Carvalho S. Gene. 2013;529(1):186-9. [ Show abstract ] [ Hide abstract ]
		Coloboma
		GH1

		Aneuploidy Chromosomes, Human, Pair 22 Cleft Palate Cyst Eye Abnormalities Females Homo sapiens Human Growth Hormone Infant Phenotype Pituitary Gland Septo-Optic Dysplasia
20 (4.0%)	23112755	A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma. Cordova-Fletes C, Dominguez MG, Vazquez-Cardenas A, Figuera LE, Neira VA, Rojas-Martinez A, Ortiz-Lopez R. Mol Syndromol. 2012;3(3):131-135. [ Show abstract ] [ Hide abstract ]
		Coloboma
		CECR2


20 (4.0%)	22730277	An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature. Tzetis M, Stefanaki K, Syrmou A, Kosma K, Leze E, Giannikou K, Oikonomakis V, Sofocleous C, Choulakis M, Kolialexi A, Makrythanasis P, Kitsiou-Tzeli S. Birth Defects Res A Clin Mol Teratol. 2012;94(7):561-6. [ Show abstract ] [ Hide abstract ]
		Teratoma


		Aneuploidy Chromosomes, Human, Pair 22 Eye Abnormalities Females Fluorescent in Situ Hybridization Head and Neck Neoplasms Homo sapiens Infant Phenotype Teratoma
20 (4.0%)	20420025	Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies. Karcaaltincaba D, Ceylaner S, Ceylaner G, Dalkilic S, Karli-Oguz K, Kandemir O. Genet Couns. 2010;21(1):19-24. [ Show abstract ] [ Hide abstract ]
		Interhemispheric cyst


		Arachnoid Cysts Brain Chromosomes, Human, Pair 22 Eye Abnormalities Fatal Outcome Females Gene Duplication Homo sapiens Infant, Newborn Magnetic Resonance Imaging Male Oligonucleotide Array Sequence Analysis Pregnancy Syndrome Trisomy
20 (4.0%)	20045748	22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. Lundin J, Soderhall C, Lunden L, Hammarsjo A, White I, Schoumans J, Lackgren G, Kockum CC, Nordenskjold A. Eur J Med Genet. 2010;53(2):61-5. [ Show abstract ] [ Hide abstract ]
		Hearing impairment


		Adult Bladder Exstrophy Chromosomes Chromosomes, Human, Pair 22 Females Fluorescent in Situ Hybridization Gene Duplication Homo sapiens Male Molecular Probe Techniques Phenotype Sweden Syndrome
20 (4.0%)	19629279 (2814778)	Interrupted aortic arch type B in A patient with cat eye syndrome. Belangero SI, Bellucco FT, Cernach MC, Hacker AM, Emanuel BS, Melaragno MI. Arq Bras Cardiol. 2009;92(5):e29-31, e56-8. [ Show abstract ] [ Hide abstract ]
		Interrupted aortic arch type B


		Chromosome Deletion Chromosomes, Human, Pair 22 Eye Abnormalities Fatal Outcome Females Homo sapiens Infant Syndrome

Phenotype(s) retrieved from Orphanet

Total: 20

HPO ID	Term	Frequency
HP:0000384	Preauricular skin tag	Very frequent (99-80%)
HP:0002023	Anal atresia	Very frequent (99-80%)
HP:0004467	Preauricular pit	Very frequent (99-80%)
HP:0000126	Hydronephrosis	Frequent (79-30%)
HP:0000316	Hypertelorism	Frequent (79-30%)
HP:0000494	Downslanted palpebral fissures	Frequent (79-30%)
HP:0000567	Chorioretinal coloboma	Frequent (79-30%)
HP:0000612	Iris coloboma	Frequent (79-30%)
HP:0000772	Abnormality of the ribs	Frequent (79-30%)
HP:0001252	Muscular hypotonia	Frequent (79-30%)
HP:0001256	Intellectual disability, mild	Frequent (79-30%)
HP:0001385	Hip dysplasia	Frequent (79-30%)
HP:0001511	Intrauterine growth retardation	Frequent (79-30%)
HP:0002564	obsolete Malformation of the heart and great vessels	Frequent (79-30%)
HP:0004322	Short stature	Frequent (79-30%)
HP:0008678	Renal hypoplasia/aplasia	Frequent (79-30%)
HP:0100542	Abnormal localization of kidney	Frequent (79-30%)
HP:0000078	Abnormality of the genital system	Occasional (29-5%)
HP:0000365	Hearing impairment	Occasional (29-5%)
HP:0000568	Microphthalmia	Occasional (29-5%)

Phenotype(s) retrieved from case reports

Total: 16

HPO ID	Term	# of case reports
HP:0000589	Coloboma	6
HP:0002023	Anal atresia	5
HP:0000135	Hypogonadism	2
HP:0000824	Growth hormone deficiency	2
HP:0004322	Short stature	2
HP:0000252	Microcephaly	1
HP:0000347	Micrognathia	1
HP:0000384	Preauricular skin tag	1
HP:0000568	Microphthalmia	1
HP:0000581	Blepharophimosis	1
HP:0000821	Hypothyroidism	1
HP:0001249	Intellectual disability	1
HP:0005160	Total anomalous pulmonary venous return	1
HP:0009792	Teratoma	1
HP:0009921	Duane anomaly	1
HP:0012732	Anorectal anomaly	1

Causative gene(s) retrieved from Orphanet

Total: 0

Gene Symbol	Gene Name	Entrez Gene ID