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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
42 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Arthrogryposis - renal dysfunction - cholestasis

APP VIPAS39
VPS33B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
VPS33B



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP
Arthrogryposis - renal dysfunction - cholestasis
VIPAS39 VPS33B



Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Arthrogryposis - renal dysfunction - cholestasis

Synonym(s):
- HCHWA, Flemish type

Synonym(s):
- ARC syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C535382

Arthrogryposis - renal dysfunction - cholestasis

Very frequent
- Arthrogryposis
- Autosomal recessive inheritance
- Death in infancy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatitis / icterus / cholestasis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Platelets function anomaly
- Renal tubular defect / tubulopathy
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Diabetes insipidus
- Fever / chilling
- Functional anomalies of the liver and the biliary tract
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypotonia
- Ichthyosis / ichthyosiform dermatitis
- Malabsorption / chronic diarrhea / steatorrhea
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Mutiple fractures / bone fragility
- Oligoamnios
- Pes talus
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Structural anomalies of the liver and the biliary tract
- Talipes-valgus
- Talipes-varus / metatarsal varus

Occasional
- Anaemia
- Beaked nose
- Cardiac septal defect
- Cirrhosis
- Corpus callosum / septum pellucidum total / partial agenesis
- Depressed nasal bridge
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypothyroidy
- Kyphosis
- Loose skin / skin relaxation / excess skin / creases
- Pectus carinatum
- Sensorineural deafness / hearing loss
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Urinary / renal lithiasis / kidney stones / nephritic colic


Hereditary cerebral hemorrhage with amyloidosis, Flemish type

(no data available)