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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
2 associated genes
No signs/symptoms info
Chuvash erythrocytosis
X-linked diffuse leiomyomatosis - Alport syndrome

VHL COL4A5
COL4A6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VHL
VHL
(0.63)
(0.63)
COL4A5
COL4A6



Citations in the biomedical literature:


Chuvash erythrocytosis
VHL
X-linked diffuse leiomyomatosis - Alport syndrome
COL4A5 COL4A6



Chuvash erythrocytosis
X-linked diffuse leiomyomatosis - Alport syndrome

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

Synonym(s):
- Xq22.3 microdeletion syndrome

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked dominant

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

No signs/symptoms info available.