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4 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
X-linked nonsyndromic sensorineural deafness type DFN
Chuvash erythrocytosis

COL4A6 VHL
PRPS1
SMPX


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


X-linked nonsyndromic sensorineural deafness type DFN
COL4A6 PRPS1 SMPX
Chuvash erythrocytosis
VHL



X-linked nonsyndromic sensorineural deafness type DFN
Chuvash erythrocytosis

Synonym(s):
- X-linked isolated neurosensory deafness type DFN
- X-linked isolated neurosensory hearing loss type DFN
- X-linked isolated sensorineural deafness type DFN
- X-linked isolated sensorineural hearing loss type DFN
- X-linked nonsyndromic neurosensory deafness type DFN
- X-linked nonsyndromic neurosensory hearing loss type DFN
- X-linked nonsyndromic sensorineural hearing loss type DFN

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

Classification (Orphanet):
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the ear and mastoid process -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.