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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
47 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Adams-Oliver syndrome

APP ARHGAP31
DOCK6
EOGT
RBPJ


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Adams-Oliver syndrome
ARHGAP31 DOCK6 EOGT RBPJ



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Adams-Oliver syndrome

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- AOS
- Congenital scalp defects with distal limb anomalies
- Congenital scalp defects with distal limb reduction anomalies
- Limb, scalp and skull defects

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin 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:
4 OMIM references -
1 MeSH reference: C538225

Adams-Oliver syndrome

Very frequent
- Autosomal dominant inheritance
- Cutis marmorata / marbled skin / livedo
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Foot absent / apodia / adactyly / acheiropodia
- Global upper and lower limbs anomalies
- Hand agenesis / absence
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lower limb segmental anomalies
- Scalp / skull defect
- Skin hypoplasia / aplasia / atrophy
- Upper limb segmental anomalies

Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Hydrocephaly
- Irregular length / shape of fingers
- Metacarpal anomalies / Archibald's sign
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Pulmonary valve atresia / stenosis / narrowing
- Short hand / brachydactyly
- Strabismus / squint
- Syndactyly of fingers / interdigital palm
- Talipes-varus / metatarsal varus
- Terminal / third phalangeal bone of fingers hypoplasia
- Tetralogy of Fallot / trilogy of Fallot
- Trident hand / split hand / abnormal median ray

Occasional
- Absent / small fingernails / anonychia of hands
- Absent / small toenails / anonychia of feet
- Alopecia
- Ascitis
- Autosomal recessive inheritance
- Cirrhosis
- Congenital hepatic fibrosis
- EEG anomalies
- Encephalocele / exencephaly
- Esophageal varices
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Leukopenia / hypoleukocytosis
- Porencephaly
- Portal hypertension
- Prematurity
- Pulmonary hypertension
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thrombocytopenia / thrombopenia
- Venous stenosis


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)