ODCs

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Anophthalmia/microphthalmia - esophageal atresia

1 OMIM reference -
1 associated gene
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9

Pallister-Hall syndrome

1 OMIM reference -
2 associated genes
39 signs/symptoms

Anophthalmia/microphthalmia - esophageal atresia

Pallister-Hall syndrome

SOX2	(UniProt - OMIM)		GLI3	(UniProt - OMIM)
			TCF4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX2	(0.63)	GLI3

Citations in the biomedical literature:

Anophthalmia/microphthalmia - esophageal atresia		Pallister-Hall syndrome
	Synonym(s): - MCOPS3 - Syndromic microphthalmia type 3		Synonym(s): - Hypothalamic hamartoblastoma 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 endocrine disease - Rare genetic disease - Rare renal disease

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

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D054975


COMMON SIGNS	- Abnormal vertebral size / shape - Autosomal dominant inheritance - Corpus callosum / septum pellucidum total / partial agenesis - Intellectual deficit / mental / psychomotor retardation / learning disability - Micropenis / small penis / agenesis - Patent ductus arteriosus - Tracheo-esophageal fistula / esophageal atresia / stenosis - Undescended / ectopic testes / cryptorchidia / unfixed testes - Ventricular septal defect / interventricular communication

Anophthalmia/microphthalmia - esophageal atresia		Pallister-Hall syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia Frequent - External ear anomalies - Visual loss / blindness / amblyopia Occasional - Coloboma of iris - Failure to thrive / difficulties for feeding in infancy / growth delay - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Hypospadias / epispadias / bent penis - Rib number anomalies - Sclerocornea		Very frequent - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Intrauterine growth retardation - Postaxial polydactyly (hand) Frequent - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cortico-adrenal hypoplasia / insufficiency - Depressed nasal bridge - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Low set ears / posteriorly rotated ears - Mesomelic micromelia - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micrognathia / retrognathia / micrognathism / retrognathism - Multicystic kidney / renal dysplasia - Short / small nose - Syndactyly of fingers / interdigital palm Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cardiac valvulopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Oral synechiae / abnormal frenulae - Postaxial polydactyly of toes / fifth supernumerary toe - Precocious puberty - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly - Stillbirth / neonatal death - Syndactyly of toes - Thyroid anomalies