Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss (DRTA2)

Alias:
Renal Tubular Acidosis with Progressive Nerve Deafness
Rta with Progressive Nerve Deafness
Drta2
Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness
Distal Renal Tubular Acidosis 2 with Progressive Sensorineural Hearing Loss
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness
Acidosis, Tubular, Renal, with Progressive Nerve Deafness
Renal Tubular Acidosis Progressive Nerve Deafness
Distal Renal Tubular Acidosis with Deafness
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss, also known as renal tubular acidosis with progressive nerve deafness, is related to renal tubular acidosis with deafness. An important gene associated with Renal Tubular Acidosis, Distal, 2, with Progressive Sensorineural Hearing Loss is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1). Affiliated tissues include kidney.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
6
24

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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