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Disease Profile
SLC4A1-associated distal renal tubular acidosis
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.
#N/A
Age of onset
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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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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 | |
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 | |
0000006 | ||
0000007 | ||
Distal renal tubular acidosis | 0008341 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
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 |
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.