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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
43 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Von Hippel-Lindau disease

APP VHL


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Von Hippel-Lindau disease
VHL



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Von Hippel-Lindau disease

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- Familial cerebelloretinal angiomatosis
- Hippel-Lindau disease
- Lindau disease
- VHL
- Von Hippel-Lindau syndrome

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D006623

Von Hippel-Lindau disease

Very frequent
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Autosomal dominant inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cerebral vascular anomalies
- Congenital pancreatic cyst
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Mild visual loss / impaired visual acuity
- Nystagmus
- Retinal vascular anomalies / retinal telangiectasia
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Vascular anomalies of skin / mucosae
- Vascular malignancy / tumor
- Visceral angiomatosis (excluding skin)

Frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Facial pain / cephalalgia / migraine
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hydrocephaly
- Motor deficit / trouble
- Multicystic kidney / renal dysplasia
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Renal / kidney anomalies
- Sensitive trouble / deficit
- Telangiectasiae of the skin

Occasional
- Anomalies of the lymphatic system
- Cardiac rhythm disorder / arrhythmia
- Cataract / lens opacification
- Chronic arterial hypertension
- Cranial hypertension
- Glaucoma
- Hearing loss / hypoacusia / deafness
- Hyperhidrosis / increased sweating
- Middle ear neoplasm / tumor / carcinoma / cancer
- Neoplasms / tumors
- Neuroendocrine tumor / apudoma / carcinoid
- Pheochromocytoma / paraganglioma
- Polycystic kidneys
- Retinal detachment
- Spermatocele / epididymal / funicular / spermatic / vaginal / albugineal cyst
- Structural anomalies of the pancreas
- Visual loss / blindness / amblyopia


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)