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7 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Posterior polar cataract
Autosomal recessive distal renal tubular acidosis with deafness

CHMP4B ATP6V1B1
CRYAB
EPHA2
GJA3
PITX3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CHMP4B
(0.63)
ATP6V1B1



Citations in the biomedical literature:


Posterior polar cataract
CHMP4B CRYAB EPHA2 GJA3 PITX3
Autosomal recessive distal renal tubular acidosis with deafness
ATP6V1B1



Posterior polar cataract
Autosomal recessive distal renal tubular acidosis with deafness

Synonym(s):
- Posterior subcapsular cataract

Synonym(s):
- AR dRTA with hearing loss
- AR dRTA wth deafness
- Autosomal recessive distal renal tubular acidosis with hearing loss
- Renal tubular acidosis type 1b

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the genitourinary system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.