Hyperparathyroidism, Neonatal malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Endocrine diseases, Fetal diseases
Aliases & Descriptions for Hyperparathyroidism, Neonatal:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive,Not applicable; Age of onset: Neonatal; Age of death: early childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases, Endocrine diseases
OMIM:50 Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone... (239200) more...
MalaCards based summary: Hyperparathyroidism, Neonatal, also known as nshpt, is related to primary hyperparathyroidism and hyperparathyroidism, and has symptoms including narrow chest, hyperparathyroidism and abnormality of the metaphyses. An important gene associated with Hyperparathyroidism, Neonatal is CASR (Calcium Sensing Receptor). Affiliated tissues include bone and thyroid.
UniProtKB/Swiss-Prot:68 Hyperparathyroidism, neonatal severe: A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy.
Diseases related to Hyperparathyroidism, Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:
Symptoms by clinical synopsis from OMIM:239200
Clinical features from OMIM:239200
Symptoms:52 (show all 10)
HPO human phenotypes related to Hyperparathyroidism, Neonatal:(show all 33)
MalaCards organs/tissues related to Hyperparathyroidism, Neonatal:34
UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism, Neonatal:68
Clinvar genetic disease variations for Hyperparathyroidism, Neonatal:5 (show all 11)
Search GEO for disease gene expression data for Hyperparathyroidism, Neonatal.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet