Autosomal recessive distal renal tubular acidosis without deafness

General Information (adopted from Orphanet):

Synonyms, Signs: RENAL TUBULAR ACIDOSIS, AUTOSOMAL RECESSIVE, WITH PRESERVED HEARING RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, WITH LATE-ONSET SENSORINEURAL HEARING LOSS, INCLUDED
RTA, DISTAL, AUTOSOMAL RECESSIVE
RTADR
Renal tubular acidosis type 1c
AR dRTA without deafness
Autosomal recessive distal renal tubular acidosis without hearing loss
AR dRTA without hearing loss
Number of Symptoms 8
OrphanetNr: 93609
OMIM Id: 602722
ICD-10: N25.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: autosomal recessive
Autosomal recessive inheritance
[Omim]
Age of onset: Childhood
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000121) Nephrocalcinosis hallmark [HPO:skoehler] 57 / 7739
2
(HPO:0008341) Distal renal tubular acidosis obligate [HPO:skoehler] 6 / 7739
3
(HPO:0008619) Bilateral sensorineural hearing impairment 23 / 7739
4
(HPO:0002013) Vomiting 191 / 7739
5
(HPO:0001508) Failure to thrive 454 / 7739
6
(HPO:0001510) Growth delay 295 / 7739
7
(HPO:0001944) Dehydration 59 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The maintenance of body fluid pH within a narrow range is critical for a wide variety of essential biochemical and metabolic functions. The kidney plays a key role in this homeostasis under normal circumstances, owing to its ability ...
Molecular genetics OMIM Karet et al. (1998) analyzed the SLC4A1 gene (109270) in 17 families with autosomal recessive distal RTA but found no mutations.

In 8 of 9 renal tubular acidosis kindreds with normal audiometry linked to the ATP6N1B ...