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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessHypoparathyroidism, familial; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for familial Hypoparathyroidism comprising 5 guideline-curated and altogether 9 curated genes

ID
HP0033
Number of genes
8 Accredited laboratory test
Examined sequence length
12,0 kb (Core-/Core-canditate-Genes)
- (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
AIRE1638AD, AR
CASR3237AD, AR
GATA31335AD
GCM21521AD, AR
GNA111080AD
GNAS1185AD
PTH348AD, AR
TBCE1584AR

Informations about the disease

Clinical Comment

Heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone, without other endocrine disorders or developmental defects

 

Synonyms
  • Alias: Hyperparathyroidism, neonatal
  • Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
  • Allelic: Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
  • Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
  • Allelic: Hyperparathyroidism 4 (GCM2)
  • Allelic: Hypocalcemia, AD (CASR)
  • Allelic: Hypocalcemia, AD, with Bartter syndrome (CASR)
  • Allelic: Hypocalciuric hypercalcemia, type I (CASR)
  • Allelic: Hypocalciuric hypercalcemia, type II (GNA11)
  • Allelic: Kenny-Caffey syndrome, type 1 (TBCE)
  • Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Allelic: Osseous heteroplasia, progressive (GNAS)
  • Allelic: Pituitary adenoma 3, multiple types, somatic (GNAS)
  • Autoimmune polyendocrinopathy syndrome , type I, with/-out reversible metaphyseal dysplasia (AIRE)
  • Hyperparathyroidism, neonatal (CASR)
  • Hypocalcemia, AD 2 (GNA11)
  • Hypoparathyroidism, familial isolated 1 (PTH)
  • Hypoparathyroidism, familial isolated 2 (GCM2)
  • Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
  • Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
  • Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
  • Pseudopseudohypoparathyroidism (GNAS)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E20.-

Bioinformatics and clinical interpretation

No text defined