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5 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
6 associated genes
34 signs/symptoms
Primary biliary cirrhosis
Septo-optic dysplasia

IL12A FGFR1
IL12RB1 HESX1
IRF5 OTX2
MMEL1 PROKR2
POU2AF1 SOX2
SPIB SOX3
TNFSF15
TNPO3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TNPO3
(0.63)
SOX2



Citations in the biomedical literature:


Primary biliary cirrhosis
IL12A IL12RB1 IRF5 MMEL1 POU2AF1 SPIB
TNFSF15 TNPO3
Septo-optic dysplasia
FGFR1 HESX1 OTX2 PROKR2 SOX2 SOX3



Primary biliary cirrhosis
Septo-optic dysplasia

Synonym(s):
- Hanot syndrome

Synonym(s):
- De Morsier syndrome
- SOD
- Septo-optic dysplasia spectrum

Classification (Orphanet):
- Rare hepatic 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 digestive system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D025962

Septo-optic dysplasia

Very frequent
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- 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
- Nystagmus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Strabismus / squint
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Antenatal exposure : alcohol
- Asthenia / fatigue / weakness
- Autism / autistic disoders
- Autosomal dominant inheritance
- 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


Primary biliary cirrhosis

(no data available)