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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
6 associated genes
34 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Septo-optic dysplasia

APP FGFR1
HESX1
OTX2
PROKR2
SOX2
SOX3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
OTX2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Septo-optic dysplasia
FGFR1 HESX1 OTX2 PROKR2 SOX2 SOX3



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Septo-optic dysplasia

Synonym(s):
- HCHWA, Flemish type

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

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
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

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


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)