MCID: SLC024
MIFTS: 12

Slc4a1-Associated Distal Renal Tubular Acidosis

Categories: Rare diseases, Nephrological diseases

Aliases & Classifications for Slc4a1-Associated Distal Renal Tubular Acidosis

MalaCards integrated aliases for Slc4a1-Associated Distal Renal Tubular Acidosis:

Name: Slc4a1-Associated Distal Renal Tubular Acidosis 49 24
Classic Distal Renal Tubular Acidosis 49 24
Renal Tubular Acidosis Type I 49 24
Distal Renal Tubular Acidosis 69
Rta, Classic Type 24
Classic Type Rta 49

Classifications:



External Ids:

UMLS 69 C1704380

Summaries for Slc4a1-Associated Distal Renal Tubular Acidosis

Genetics Home Reference : 24 SLC4A1-associated distal renal tubular acidosis is a kidney (renal) disorder that sometimes includes blood cell abnormalities. The kidneys normally filter fluid and waste products from the body and remove them in urine; however, in people with distal renal tubular acidosis, the kidneys are unable to remove enough acid from the body, and the blood becomes too acidic. This chemical imbalance is called metabolic acidosis. The inability to remove acids from the body often results in slowed growth and may also lead to softening and weakening of the bones, called rickets in children and osteomalacia in adults. This bone disorder is characterized by bone pain, bowed legs, and difficulty walking. In addition, most children and adults with SLC4A1-associated distal renal tubular acidosis have excess calcium in the urine (hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to life-threatening kidney failure. Affected individuals may also have low levels of potassium in the blood (hypokalemia).

MalaCards based summary : Slc4a1-Associated Distal Renal Tubular Acidosis, also known as classic distal renal tubular acidosis, is related to renal tubular acidosis, distal, autosomal dominant and renal tubular acidosis. Affiliated tissues include kidney and bone.

Related Diseases for Slc4a1-Associated Distal Renal Tubular Acidosis

Diseases related to Slc4a1-Associated Distal Renal Tubular Acidosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal, autosomal dominant 11.4
2 renal tubular acidosis 10.2
3 renal tubular acidosis, distal 10.2

Symptoms & Phenotypes for Slc4a1-Associated Distal Renal Tubular Acidosis

Drugs & Therapeutics for Slc4a1-Associated Distal Renal Tubular Acidosis

Search Clinical Trials , NIH Clinical Center for Slc4a1-Associated Distal Renal Tubular Acidosis

Genetic Tests for Slc4a1-Associated Distal Renal Tubular Acidosis

Anatomical Context for Slc4a1-Associated Distal Renal Tubular Acidosis

MalaCards organs/tissues related to Slc4a1-Associated Distal Renal Tubular Acidosis:

38
Kidney, Bone

Publications for Slc4a1-Associated Distal Renal Tubular Acidosis

Articles related to Slc4a1-Associated Distal Renal Tubular Acidosis:

# Title Authors Year
1
Absence of H(+)-ATPase in the intercalated cells of renal tissues in classic distal renal tubular acidosis. ( 9582552 )
1998
2
Urine-to-blood carbon dioxide tension gradient and maximal depression of urinary pH to distinguish rate-dependent from classic distal renal tubular acidosis in children. ( 8419615 )
1993

Variations for Slc4a1-Associated Distal Renal Tubular Acidosis

Expression for Slc4a1-Associated Distal Renal Tubular Acidosis

Search GEO for disease gene expression data for Slc4a1-Associated Distal Renal Tubular Acidosis.

Pathways for Slc4a1-Associated Distal Renal Tubular Acidosis

GO Terms for Slc4a1-Associated Distal Renal Tubular Acidosis

Sources for Slc4a1-Associated Distal Renal Tubular Acidosis

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10 dbSNP
11 DGIdb
16 ExPASy
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67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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