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Disease Profile

Familial hypocalciuric hypercalcemia type 3

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

-

ICD-10

E83.5

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)

HHC3; Familial benign hypercalcemia, type 3; FBH3;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Lung Diseases;

Summary

Familial hypocalciuric hypercalcemia (FHH) type 3 is one of three recognized types of FHH, an inherited condition that causes abnormally high levels of calcium in the blood (hypercalcemia). FHH also causes high levels of parathyroid hormone (PTH) and low levels of calcium in the urine (hypocalciuria). In most cases, FHH does not cause signs or symptoms.[1] However, some people with FHH do report symptoms. Signs and symptoms that may occur in some people with FHH type 3 include high magnesium in addition to calcium, general symptoms of hypercalcemia (such as weakness, fatigue, muscle pain, constipation, depression, confusion, and excessive thirst), lower bone mineral density, behavioral disorders, and learning disabilities.[1][2][3][4] FHH type 3 is caused by a mutation in the AP2S1 gene and inheritance is autosomal dominant.[1] Treatment is generally not necessary in people with no signs or symptoms of FHH. In severe cases however, removal of the parathyroid gland (parathyroidectomy) may be recommended.[2][3]

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
Depressivity
Depression
0000716
Fatigue
Tired
Tiredness

[ more ]

0012378
Headache
Headaches
0002315
Multiple small medullary renal cysts
0008659
Muscle weakness
Muscular weakness
0001324
Nephrolithiasis
Kidney stones
0000787
Peptic ulcer
Sore in the lining of gastrointestinal tract
0004398
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Bone pain
0002653
Chondrocalcinosis
Calcium deposits in joints
0000934
Hypercalcemia
High blood calcium levels
Increased calcium in blood

[ more ]

0003072
Hypermagnesemia
High blood magnesium levels
0002918
Hypocalciuria
Low urine calcium levels
0003127
Hypophosphatemia
Low blood phosphate level
0002148
Multiple lipomas
Multiple fatty lumps
0001012
Osteomalacia
Softening of the bones
0002749
Pancreatitis
Pancreatic inflammation
0001733
Parathormone-independent increased renal tubular calcium reabsorption
0003529
Primary hyperparathyroidism
0008200

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

    • 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. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Familial hypocalciuric hypercalcemia type 3. Click on the link to view a sample search on this topic.

      References

      1. Hovden S, Rejnmark L, Ladefoged SA, Nissen PH. AP2S1 and GNA11 mutations not a common cause of familial hypocalciuric hypercalcemia. Eur J Endocrinol. February, 2017; 176(2):177-185. https://www.eje-online.org/content/176/2/177.long.
      2. Lienhardt-Roussie A. Familial hypocalciuric hypercalcemia. Orphanet. May 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=405.
      3. Afzal M, Kathuria P. Familial Hypocalciuric Hypercalcemia (FHH). StatPearls [Internet]. StatPearls Publishing; January 2018; https://www.ncbi.nlm.nih.gov/books/NBK459190/.
      4. Szalat A, Shpitzen S, Tsur A et al. Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.. Endocrine. March, 2017; 55(3):741-747. https://www.ncbi.nlm.nih.gov/pubmed/28176280.