ODCs

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Foveal hypoplasia - presenile cataract

1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

Septo-optic dysplasia

1 OMIM reference -
6 associated genes
34 signs/symptoms

Foveal hypoplasia - presenile cataract

Septo-optic dysplasia

PAX6	(UniProt - OMIM)	FGFR1	(UniProt - OMIM)
		HESX1	(UniProt - OMIM)
		OTX2	(UniProt - OMIM)
		PROKR2	(UniProt - OMIM)
		SOX2	(UniProt - OMIM)
		SOX3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PAX6 PAX6	(0.72) (0.52)	SOX2 SOX3

Citations in the biomedical literature:

Foveal hypoplasia - presenile cataract		Septo-optic dysplasia
	Synonym(s): - O'Donnell-Pappas syndrome		Synonym(s): - De Morsier syndrome - SOD - Septo-optic dysplasia spectrum

	Classification (Orphanet): - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the eye and adnexa -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown 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: D025962


COMMON SIGNS	- Autosomal dominant inheritance - Nystagmus - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Strabismus / squint

Foveal hypoplasia - presenile cataract		Septo-optic dysplasia
	Very frequent - Anomalies of eyes and vision - Cataract / lens opacification - Diffuse / generalised skin hyperpigmentation / melanoderma		Very frequent - Septo-optic dysplasia - Visual loss / blindness / amblyopia Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Micropenis / small penis / agenesis - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Antenatal exposure : alcohol - Asthenia / fatigue / weakness - Autism / autistic disoders - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Constipation - Diabetes insipidus - Dry / squaly skin / exfoliation - Generalized obesity - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Intellectual deficit / mental / psychomotor retardation / learning disability - Maternal diabetes - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Sensorineural deafness / hearing loss - Sleep and vigilance disorders - Thirst - Tracheo-esophageal fistula / esophageal atresia / stenosis