IllnessHypoparathyroidism, familial; differential diagnosis
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
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