HYPERPARATHYROIDISM, NEONATAL SELF-LIMITED PRIMARY, WITH HYPERCALCIURIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 239199
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000121) Nephrocalcinosis 57 / 7739
2
 (HPO:0002150) Hypercalciuria 45 / 7739
3
 (HPO:0001947) Renal tubular acidosis 21 / 7739
4
 (HPO:0000843) Hyperparathyroidism 17 / 7739
5
 (HPO:0002013) Vomiting 191 / 7739
6
 (HPO:0001508) Failure to thrive 454 / 7739
7
 (HPO:0003072) Hypercalcemia 36 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Elevated parathyroid hormone response to calcium 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: