ODCs

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CHARGE syndrome

1 OMIM reference -
2 associated genes
83 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12

Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

CHARGE syndrome

Anophthalmia/microphthalmia - esophageal atresia

CHD7	(UniProt - OMIM)		SOX2	(UniProt - OMIM)
SEMA3E	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CHD7	(0.73)	SOX2

Citations in the biomedical literature:

CHARGE syndrome		Anophthalmia/microphthalmia - esophageal atresia
	Synonym(s): - CHARGE association - Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities - Hall-Hittner syndrome		Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare surgical cardiac disease - Rare urogenital disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D058747		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal dominant inheritance - Coloboma of iris - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Intellectual deficit / mental / psychomotor retardation / learning disability - Micropenis / small penis / agenesis - Patent ductus arteriosus - Rib number anomalies - Tracheo-esophageal fistula / esophageal atresia / stenosis - Undescended / ectopic testes / cryptorchidia / unfixed testes

CHARGE syndrome		Anophthalmia/microphthalmia - esophageal atresia
	Very frequent - Facial palsy - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Folded helix - Hearing loss / hypoacusia / deafness - Small / hypoplastic / adherent / absent ear lobe - Structural anomalies of inner ear / cochlea / vestible / semicircular canals Frequent - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis - Autism / autistic disoders - Bifid scrotum - Broad nose / nasal bridge - Cardiac septal defect - Choanal atresia - Cleft lip and palate - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Cryptophthalmia / ankyloblepharon / synblepharon - Delayed dentition / eruption of teeth / lack of eruption of teeth - Depressed nasal bridge - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Grooved / dimple chin - Hyperactivity / attention deficit - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Hypotonia - Immobile soft palate / soft palate anomaly - Late puberty / hypogonadism / hypogenitalism - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Narrow face - Nystagmus - Obsessive-compulsive disorder - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Polyhydramnios - Retinoschisis / retinal / chorioretinal coloboma - Strabismus / squint - Tetralogy of Fallot / trilogy of Fallot - Uterine / uterus / Fallopian tubes anomalies Occasional - Adrenal glands anomalies - Anomalies of bones / skeletal anomalies - Anomalies of eyes and vision - Bone / osseous hypoplasia - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clinodactyly of fifth finger - Coloboma of the eyelid - Cranial nerves palsy - Dandy-Walker anomaly - Defect / anomaly of lacrimal system - Early death / lethality - Ectopic / horseshoe / fused kidneys - Epicanthic folds - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat cheek bones / malar hypoplasia - High arched eyebrows - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intrauterine growth retardation - Laryngomalacia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microcephaly - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Preauricular / branchial tags / appendages - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Short hand / brachydactyly - Stenosis of aqueduc of Sylvius - Talipes-varus / metatarsal varus - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Vertebral segmentation anomaly / hemivertebrae - Vesicorenal / vesicoureteral reflux		Frequent - Abnormal vertebral size / shape - Corpus callosum / septum pellucidum total / partial agenesis - Visual loss / blindness / amblyopia Occasional - Hydrocephaly - Hypospadias / epispadias / bent penis - Sclerocornea - Ventricular septal defect / interventricular communication