Hyperparathyroidism, neonatal severe

Preferred Label : Hyperparathyroidism, neonatal severe;

Symbol : NSHPT;

CISMeF acronym : NHPT; NSHPT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperparathyroidism, neonatal severe primary; Nsph; NHPT;

Description : Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by Egbuna and Brown, 2008).;

Inheritance : Autosomal recessive; Autosomal dominant (de novo in some patients);

Molecular basis : Caused by mutation in the calcium-sensing receptor gene (CASR, 601199.0002);

Laboratory abnormalities : Elevated serum parathyroid hormone; Parathyroid chief-cell hyperplasia; Hypophosphatemia; Hypercalcemia; Hyperphosphaturia; Aminoaciduria; Hypercalciuria; Increased urinary cyclic AMP;

Prefixed ID : #239200;

Details

Origin ID

239200;

UMLS CUI

C1832615;

Automatic exact mappings (from CISMeF team)
- Nine-Hole Peg Functional Test [NCIt concept]
- calcium sensing receptor [ORDO Gene]
- calcium sensing receptor [HGNC gene]
Currated CISMeF NLP mapping
- Neonatal Severe Primary Hyperparathyroidism [NCIt concept]
- Neonatal severe primary hyperparathyroidism [ICD-11 More detail]
- Neonatal severe primary hyperparathyroidism [ORDO Disease]
- Neonatal severe primary hyperparathyroidism (disorder) [SNOMED CT concept]
- hyperparathyroidism, neonatal severe primary [MeSH concept]
- hyperparathyroidism, neonatal severe primary [MeSH Supplementary Concept]
Genes related to phenotype
- Calcium-sensing receptor [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calcinosis [HPO term]
- Constipation [HPO term]
- Dyspnea [HPO term]
- Elevated circulating parathyroid hormone level [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hypercalcemia [HPO term]
- Hypercalciuria [HPO term]
- Hyperphosphaturia [HPO term]
- Hypophosphatemia [HPO term]
- Hypotonia [HPO term]
- Metaphyseal irregularity [HPO term]
- Narrow chest [HPO term]
- Neonatal primary hyperparathyroidism [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Primary hyperparathyroidism [HPO term]
- Recurrent fractures [HPO term]
- Splenomegaly [HPO term]
- Tachypnea [HPO term]
ORDO concept(s)
- Neonatal severe primary hyperparathyroidism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neonatal Severe Primary Hyperparathyroidism [NCIt concept]
- Neonatal severe primary hyperparathyroidism [ORDO Disease]
- Neonatal severe primary hyperparathyroidism (disorder) [SNOMED CT concept]
- hyperparathyroidism, neonatal severe primary [MeSH Supplementary Concept]

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