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Disease Profile

Bartter syndrome antenatal type 2

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.

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US Estimated

Europe Estimated

Age of onset

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ICD-10

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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)

Hypokalemic alkalosis with hypercalciuria antenatal 2; Hyperprostaglandin E syndrome 2

Categories

Metabolic disorders

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
Hypomagnesemia
Low blood magnesium levels
0002917
Percent of people who have these symptoms is not available through HPO
Abnormally large globe
Increased size of eyes
Large eyes

[ more ]

0001090
Autosomal recessive inheritance
0000007
Chondrocalcinosis
Calcium deposits in joints
0000934
Constipation
0002019
Dehydration
0001944
Diarrhea
Watery stool
0002014
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Fetal polyuria
0001563
Fever
0001945
Frontal bossing
0002007
Generalized muscle weakness
0003324
Global developmental delay
0001263
Hyperactive renin-angiotensin system
0000841
Hyperaldosteronism
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production

[ more ]

0000859
Hypercalciuria
Elevated urine calcium levels
0002150
Hyperchloriduria
Increased urinary chloride
0002914
Hyperprostaglandinuria
High urine prostaglandin levels
0003527
Hypochloremia
Low blood chloride levels
0003113
Hypokalemia
Low blood potassium levels
0002900
Hypokalemic metabolic alkalosis
0001960
Hyposthenuria
0003158
Impaired platelet aggregation
0003540
Increased circulating renin level
Elevated blood renin level
0000848
Increased serum prostaglandin E2
0003566
Increased urinary potassium
0003081
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Low-to-normal blood pressure
0002632
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Macrotia
Large ears
0000400
Muscle spasm
0003394
Nephrocalcinosis
Too much calcium deposited in kidneys
0000121
Osteopenia
0000938
Paresthesia
Pins and needles feeling
Tingling

[ more ]

0003401
Polydipsia
Extreme thirst
0001959
Polyhydramnios
High levels of amniotic fluid
0001561
Polyuria
Increased urine output
0000103
Premature birth
Premature delivery of affected infants
Preterm delivery

[ more ]

0001622
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Renal juxtaglomerular cell hypertrophy/hyperplasia
0000111
Renal potassium wasting
0000128
Renal salt wasting
Loss of salt in urine
0000127
Seizure
0001250
Short stature
Decreased body height
Small stature

[ more ]

0004322
Small for gestational age
Birth weight less than 10th percentile
Low birth weight

[ more ]

0001518
Tetany
Intermittent involuntary muscle spasm
0001281
Triangular face
Face with broad temples and narrow chin
Triangular facial shape

[ more ]

0000325
Vomiting
Throwing up
0002013

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.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      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.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • 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. 
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Bartter syndrome antenatal type 2. Click on the link to view a sample search on this topic.