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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CYP24A11545NM_000782.5AR
SLC34A11920NM_003052.5AR
ALPL1575NM_000478.6AR
CASR3237NM_000388.4AD
PTH348NM_000315.4AD, AR

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