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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
15 signs/symptoms
Chuvash erythrocytosis
Bruck syndrome

VHL FKBP10
PLOD2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VHL
(0.63)
PLOD2



Citations in the biomedical literature:


Chuvash erythrocytosis
VHL
Bruck syndrome
FKBP10 PLOD2



Chuvash erythrocytosis
Bruck syndrome

Synonym(s):
- Chuvash polycythemia
- Von Hippel-Lindau-dependent polycythemia

Synonym(s):
- Osteogenesis imperfecta - congenital joint contractures

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
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:
2 OMIM references -
No MeSH references

Bruck syndrome

Very frequent
- Arthrogryposis
- Autosomal recessive inheritance
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Wormian bones

Frequent
- Kyphosis
- Pterygion
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis
- Talipes-varus / metatarsal varus
- Triangular face

Occasional
- Bowed diaphysis / diaphyses / long bones
- Platyspondyly


Chuvash erythrocytosis

(no data available)