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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
63 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Mosaic variegated aneuploidy syndrome

APP BUB1
BUB1B
BUB3
CEP57


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
CEP57



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Mosaic variegated aneuploidy syndrome
BUB1 BUB1B BUB3 CEP57



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Mosaic variegated aneuploidy syndrome

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- Warburton-Anyane-Yeboa syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic 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: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C536987

Mosaic variegated aneuploidy syndrome

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Ascitis
- Autosomal recessive inheritance
- Cataract / lens opacification
- Corneal clouding / opacity / vascularisation
- Dandy-Walker anomaly
- Dilated cerebral ventricles without hydrocephaly
- Epicanthic folds
- Glaucoma
- Increased nuchal translucency
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Polyhydramnios
- Short stature / dwarfism / nanism

Frequent
- Anomalies of eyes and vision
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Triangular face

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Acute leukemia
- Ambiguous genitalia
- Anomalies of bones / skeletal anomalies
- Anomalies of ear and hearing
- Apnea / sleep apnea
- Atrial septal defect / interauricular communication
- Cafe-au-lait spot
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Colon neoplasm / tumor / carcinoma / cancer
- Congenital cardiac anomaly / malformation / cardiopathy
- Corpus callosum / septum pellucidum total / partial agenesis
- Digestive neoplasm / tumor / carcinoma / cancer
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Duodenal atresia / stenosis / megaduodenum
- Early death / lethality
- Estomach / gastric neoplasm / tumor / carcinoma / cancer
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flattened nose
- Frontal bossing / prominent forehead
- High forehead
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Hypothyroidy
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Intrauterine growth retardation
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Multicystic kidney / renal dysplasia
- Myelodysplastic syndrome
- Neoplasms / tumors
- Nephroblastoma / Wilms tumor
- Osteolysis / osteoclasia / bone destruction / erosions
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Polyposis of the bowel / colon / intestine
- Seizures / epilepsy / absences / spasms / status epilepticus
- Skull / cranial anomalies
- Sloping forehead
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Upper limb segmental anomalies
- Vaginal / vulvar neoplasm / tumor / carcinoma / cancer


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)