IllnessHypercalcaemia, infantile; differential diagnosis
Summary
Short information
2 curated core candidate ene sequence analyses according to the differential diagnosis of the clinical suspicion Hyperkalzemia, infantile, type 1 + 2; eventually altogether 11 curated genes could/should be analysed for this clinical suspicion
ID
HP0221
Number of genes
5
Accredited laboratory test
Examined sequence length
3,5 kb (Core-/Core-canditate-Genes)
8,7 kb (Extended panel: incl. additional genes)
8,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Phosphocalcic metabolism disorder with early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels, medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria
Synonyms
- Alias: Hypercalaemia, idiopathic, of infancy (CYP24A1)
- Alias: Hypophosphatasia, adult (ALPL)
- Alias: Hypophosphatasia, childhood (ALPL)
- Alias: Neonatal severe hyperparathyroidism (CASR)
- Alias: Odontohypophosphatasia (ALPL)
- Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
- Allelic: Chondrodysplasia, Blomstrand type (PTH1R)
- Allelic: Eiken syndrome (PTH1R)
- Allelic: Failure of tooth eruption, primary (PTH1R)
- Allelic: Fanconi renotubular syndrome 2 (SLC34A1)
- Allelic: Hypocalcemia, AD 2 (GNA11)
- Allelic: Hypoparathyroidism, familial isolated 1 (PTH)
- Allelic: Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (SLC34A1)
- Bartter syndrome, type 1 (SLC12A1)
- Bartter syndrome, type 2 (KCNJ1)
- Familial infantile hypercalcemia with suppressed intact parathyroid hormone
- Glucose/galactose malabsorption (SLC5A1)
- Hypercalcemia, infantile, 1 (CYP24A1)
- Hypercalcemia, infantile, 2 (SLC34A1)
- Hyperparathyroidism, neonatal (CASR)
- Hypocalciuric hypercalcemia, type II (GNA11)
- Hypocalciuric hypercalcemia, type III (AP2S1)
- Hypophosphatasia, infantile (ALPL)
- IMAGe syndrome (CDKN1C)
- Lactase deficiency, congenital (LCT)
- Metaphyseal chondrodysplasia, Murk Jansen type (PTH1R)
- Neonatal severe primary hyperparathyroidism [Lit.] (PTH)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined