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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Knobloch syndrome

APP COL18A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.49)
COL18A1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Knobloch syndrome
COL18A1



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Knobloch syndrome

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- Knobloch-Layer syndrome
- Retinal detachment - occipital encephalocele

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537209

Knobloch syndrome

Very frequent
- Autosomal recessive inheritance
- Encephalocele / exencephaly
- Macular dystrophy / absence / hypoplasia of the macula
- Myopia
- Retinal detachment
- Scalp / skull defect

Frequent
- Hydrocephaly
- Nystagmus
- Visual loss / blindness / amblyopia
- Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Occasional
- Cataract / lens opacification
- Depressed nasal bridge
- Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus
- Epicanthic folds
- Gastric / pyloric stenosis
- Hair and scalp anomalies
- Hyperextensible joints / articular hyperlaxity
- Lens dislocation / luxation / subluxation / ectopia lentis
- Lymphangioma / lymphatic malformations
- Mid-facial hypoplasia / short / small midface
- Patent ductus arteriosus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Strabismus / squint
- Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter
- Vesicorenal / vesicoureteral reflux


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)