Autosomal dominant distal renal tubular acidosis

General Information (adopted from Orphanet):

Synonyms, Signs: RTA, CLASSIC TYPE
RENAL TUBULAR ACIDOSIS I
RTA, GRADIENT TYPE
RTA, DISTAL TYPE, AUTOSOMAL DOMINANT
Renal tubular acidosis type 1a
AD dRTA
Number of Symptoms 12
OrphanetNr: 93608
OMIM Id: 179800
ICD-10: N25.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal renal tubular acidosis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000121) Nephrocalcinosis 57 / 7739
2
 (HPO:0001947) Renal tubular acidosis 21 / 7739
3
 (HPO:0003768) Periodic paralysis 9 / 7739
4
 (HPO:0002749) Osteomalacia 24 / 7739
5
 (HPO:0002756) Pathologic fracture 30 / 7739
6
 (HPO:0001510) Growth delay 295 / 7739
7
 (HPO:0002901) Hypocalcemia 56 / 7739
8
 (OMIM) Fixed urinary specific gravity 1 / 7739
9
 (OMIM) Low serum bicarbonate 2 / 7739
10
 (OMIM) Hypokalemic muscle weakness 2 / 7739
11
 (OMIM) High serum chloride 1 / 7739
12
 (OMIM) Fixed urinary pH of about 5.0 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Randall and Targgart (1961) observed renal tubular acidosis in members of several successive generations. All affected members showed both acidosis and nephrocalcinosis. Randall (1967) provided follow-up of this family. The pedigree included 4 instances of male-to-male transmission. The ...
Molecular genetics OMIM Bruce et al. (1997) and Karet et al. (1998) found that autosomal dominant distal renal tubular acidosis is associated with mutations in the SLC4A1 gene (see 109270.0012-109270.0015), which encodes the band 3 protein of the red cell membrane. ...