Rare Medical News

Disease Profile

SLC4A1-associated distal renal tubular acidosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Classic distal renal tubular acidosis; Renal tubular acidosis type I; Classic type RTA

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Decreased mean corpuscular volume
0025066
Hemolytic anemia
0001878
Reticulocytosis
Increased immature red blood cells
Increased number of immature red blood cells

[ more ]

0001923
Percent of people who have these symptoms is not available through HPO
Anorexia
0002039
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Distal renal tubular acidosis
0008341
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Hyperchloremic metabolic acidosis
0004918
Hypocalcemia
Low blood calcium levels
0002901
Hypokalemia
Low blood potassium levels
0002900
Isothenuria
0030036
Lethargy
0001254
Muscle weakness
Muscular weakness
0001324
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Osteomalacia
Softening of the bones
0002749
Pallor
0000980
Pathologic fracture
Spontaneous fracture
0002756
Periodic hypokalemic paresis
0008153
Periodic paralysis
0003768
Postnatal growth retardation
Growth delay as children
0008897
Renal tubular acidosis
Accumulation of acid in body due to kidney problem
0001947
Rickets
Weak and soft bones
0002748
Short stature
Decreased body height
Small stature

[ more ]

0004322

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
    Autosomal Dominant Form
    Autosomal Recessive Form

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on SLC4A1-associated distal renal tubular acidosis. This website is maintained by the National Library of Medicine.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Autosomal dominant distal renal tubular acidosis
    Distal renal tubular acidosis with hemolytic anemia
  • PubMed is a searchable database of medical literature and lists journal articles that discuss SLC4A1-associated distal renal tubular acidosis. Click on the link to view a sample search on this topic.