Hypocalciuric Hypercalcemia, Familial, Type I; Hhc1

Description

Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH ) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by Hannan et al., 2010).Characteristic features of familial hypocalciuric hypercalcemia include mild to moderate hypercalcemia, nonsuppressed parathyroid hormone, relative hypocalciuria while hypercalcemic (calcium/creatinine clearance ratio less than 0.01, or 24-hr urine calcium less than 6.25 mmol), almost 100% penetrance of hypercalcemia from birth, absence of complications, persistence of hypercalcemia following subtotal parathyroidectomy, and normal parathyroid size, weight, and histology at surgery. However, atypical presentations with severe hypercalcemia, hypercalciuria with or without nephrolithiasis or nephrocalcinosis, kindreds with affected members displaying either hypercalciuria or hypocalciuria, postoperative normocalcemia, and pancreatitis have all been described in FHH (Warner et al., 2004). Genetic Heterogeneity of Hypocalciuric HypercalcemiaFamilial hypocalciuric hypercalcemia type II (HHC2 ) is caused by mutation in the GNA11 gene (OMIM ) on chromosome 19p13, and HHC3 (OMIM ) is caused by mutation in the AP2S1 gene (OMIM ) on chromosome 19q13.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypocalciuric Hypercalcemia, Familial, Type I; Hhc1

  • Neoplasm
  • Pain
  • Fatigue
  • Renal insufficiency
  • Headache
  • Constipation
  • Abdominal pain
  • Autoimmunity
  • Nausea and vomiting
  • Nephrolithiasis

And another 29 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hypocalciuric Hypercalcemia, Familial, Type I; Hhc1 Is also known as hhc, familial benign hypercalcemia 1, hypercalcemia, familial benign, fhh, fbh1, fhh1.

Researches and researchers

Doctors, researchs, and experts related to Hypocalciuric Hypercalcemia, Familial, Type I; Hhc1 extracted from public data.

Hypocalciuric Hypercalcemia, Familial, Type I; Hhc1 Experts map



Current Researchs and researchers

  • KINGSTON — Dr Glenville JONES

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Queen's University
    • Research area/topic::

      IIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium - CA


Hypocalciuric Hypercalcemia, Familial, Type I; Hhc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Familial Hypocalciuric Hypercalcemia (CASR) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CASR
Specificity
100 %
Genes
100 %
CASR DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

CASR
Specificity
100 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
NGS Epilepsy/Seizure Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Pancreas Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SPINK1, CASR, UBR1, CEL, CFTR, SBDS, CLDN2, CPA1, CTRC, PRSS1
Specificity
10 %
Genes
100 %
Pancreas Panel Deletion/duplication Analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SPINK1, CASR, CFTR, CTRC
Specificity
25 %
Genes
100 %

You can get up to 131 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SCLEROCORNEA, AUTOSOMAL DOMINANT IMMUNODEFICIENCY 47; IMD47 HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT DUBOWITZ SYNDROME ACROMELIC FRONTONASAL DYSOSTOSIS; AFND AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15