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4 OMIM references -
3 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
X-linked nonsyndromic sensorineural deafness type DFN
X-linked diffuse leiomyomatosis - Alport syndrome

COL4A6 COL4A5
PRPS1 COL4A6
SMPX


COMMON
GENES
COL4A6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A6
(0.52)
COL4A5



Citations in the biomedical literature:


X-linked nonsyndromic sensorineural deafness type DFN
COL4A6 PRPS1 SMPX
X-linked diffuse leiomyomatosis - Alport syndrome
COL4A5



X-linked nonsyndromic sensorineural deafness type DFN
X-linked diffuse leiomyomatosis - Alport syndrome

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):
- Xq22.3 microdeletion syndrome

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

Classification (ICD10):
- Diseases of the ear and mastoid process -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

External references:
4 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.