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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessHypocalciuric hypercalcaemia, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for hypokalziuric Hyperkalzemia comprising 5 or 10 curated genes according to the clinical signs

ID
HP1010
Number of genes
10 Accredited laboratory test
Examined sequence length
7,9 kb (Core-/Core-canditate-Genes)
11,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
AP2S1429AD
CASR3237AD
CDC731596AD
GCM21521AD, AR
GNA111080AD
CDKN1A495AD
CDKN1B597AD
CDKN2B417AD
CDKN2C507AD
MEN11833AD

Informations about the disease

Clinical Comment

Familial hypercalcemia and hypocalciuria (FHH) often do not cause any, sometimes only unspecific symptoms such as weakness, fatigue, polydipsia, very rarely pancreatitis or chondrocalciulosis. Type 1 FHH is common (mutations in the CASR gene); type 2 (GNA11 gene mutations); type 3 (AP2S1 mutations). All three types are inherited autosomal dominantly (with unknown penetrance). In rare cases, FHH can be caused if antibodies are produced without genetic involvement of the immune system, which attack the CaSR protein. Genetic tests can confirm the diagnosis of FHH, except in rare cases of autoimmune diseases. The differential diagnosis includes hyperparathyroidism and related diseases. The diagnosis rate is practically unknown because of the lack of symptoms. If there are no symptoms, treatment is usually unnecessary.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK459190/

 

Synonyms
  • Alias: Familial primary hyperparathyroidism
  • Alias: Familiärer primärer Hyperparathyreoidismus
  • Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
  • Allelic: Hyperparathyroidism, neonatal (CASR)
  • Allelic: Hyperparathyroidism-jaw tumor syndrome (CDC73)
  • Allelic: Hypocalcemia, AD (CASR)
  • Allelic: Hypocalcemia, AD 2 (GNA11)
  • Allelic: Hypocalcemia, AD with Bartter syndrome (CASR)
  • Allelic: Hypoparathyroidism, familial isolated 2 (GCM2)
  • Allelic: Parathyroid adenoma with cystic changes (CDC73)
  • Allelic: Parathyroid carcinoma (CDC73)
  • Hyperparathyroidism 4 (GCM2)
  • Hyperparathyroidism, familial primary (CDC73)
  • Hypocalciuric hypercalcemia, type I (CASR)
  • Hypocalciuric hypercalcemia, type II (GNA11)
  • Hypocalciuric hypercalcemia, type III (AP2S1)
  • Multiple endocrine neoplasia (CDKN1A)
  • Multiple endocrine neoplasia (CDKN1C)
  • Multiple endocrine neoplasia (CDKN2B)
  • Multiple endocrine neoplasia (CDKN2C)
  • Multiple endocrine neoplasia 1 (MEN1)
  • Multiple endocrine neoplasia 4 (CDKN1B)
  • Parathyroid adenoma, somatic (MEN1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E83.5-

Bioinformatics and clinical interpretation

No text defined