ODCs

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12

Townes-Brocks syndrome

1 OMIM reference -
1 associated gene
60 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Townes-Brocks syndrome

SOX2

(UniProt - OMIM)

SALL1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	SALL1

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Townes-Brocks syndrome
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - Imperforate anus with hand, foot and ear anomalies - REAR syndrome - Renal-ear-anal-radial syndrome - Sensorineural deafness with imperforate anus and hypoplastic thumbs - TBS - Townes syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease

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

	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		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536974


COMMON SIGNS	- Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Autosomal dominant inheritance - Coloboma of iris - Corpus callosum / septum pellucidum total / partial agenesis - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Micropenis / small penis / agenesis - Patent ductus arteriosus - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia

Anophthalmia/microphthalmia - esophageal atresia		Townes-Brocks syndrome
	Very frequent - Tracheo-esophageal fistula / esophageal atresia / stenosis Frequent - Abnormal vertebral size / shape Occasional - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Rib number anomalies - Sclerocornea - Ventricular septal defect / interventricular communication		Very frequent - Anus / rectum anomalies - Fingerlike / triphalangeal thumb - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Preauricular / branchial tags / appendages - Preaxial polydactyly (hand) Frequent - Anus ectopia / anteposition / malposition - Clinodactyly of fifth finger - Constipation - Flat foot - Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes - Foot anomalies - Hearing loss / hypoacusia / deafness - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Renal failure - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - Anomalies of spine, vertebrae and pelvis - Anomalies of the ribs - Arnold-Chiari anomaly - Atrial septal defect / interauricular communication - Bifid scrotum - Blepharophimosis / short palpebral fissures - Broad / bifid big toe - Broad / bifid thumb - Cardiac septal defect - Cataract / lens opacification - Congenital cardiac anomaly / malformation / cardiopathy - Conjunctival tumor / epibulbar dermoid - Cranial nerves palsy - Ectopic / horseshoe / fused kidneys - Encopresis / fecal incontinence - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Hypothyroidy - Late puberty / hypogonadism / hypogenitalism - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Macrostomia / big mouth - Oligodactyly / ectrodactyly of toes - Pulmonary valve atresia / stenosis / narrowing - Retinoschisis / retinal / chorioretinal coloboma - Short stature / dwarfism / nanism - Strabismus / squint - Syndactyly of toes - Tetralogy of Fallot / trilogy of Fallot - Tragus abnormal / absent - Ulnar deviation of fingers - Urethral anomalies / stenosis / posterior urethral valves / megalocystis - Uterine / uterus / Fallopian tubes anomalies - Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation - Vesicorenal / vesicoureteral reflux