Neonatal severe primary hyperparathyroidism

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
NSHPT
NHPT
NSPH
Number of Symptoms 38
OrphanetNr: 417
OMIM Id: 239200
ICD-10: E21.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hyperparathyroidism
 -Rare genetic disease
Primary bone dysplasia with defective bone mineralization
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare hyperparathyroidism
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
 (HPO:0000121) Nephrocalcinosis 57 / 7739
2
 (HPO:0002150) Hypercalciuria 45 / 7739
3
 (HPO:0003355) Aminoaciduria 65 / 7739
4
 (HPO:0011037) Decreased urine output Very frequent [Orphanet] 47 / 7739
5
 (HPO:0000103) Polyuria 60 / 7739
6
 (HPO:0003109) Hyperphosphaturia 18 / 7739
7
 (HPO:0001959) Polydipsia 43 / 7739
8
 (HPO:0000843) Hyperparathyroidism Very frequent [Orphanet] 17 / 7739
9
 (HPO:0008200) Primary hyperparathyroidism 5 / 7739
10
 (HPO:0003165) Elevated circulating parathyroid hormone level 17 / 7739
11
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
12
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
13
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
14
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
15
 (HPO:0002757) Recurrent fractures 47 / 7739
16
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
17
 (HPO:0002019) Constipation 194 / 7739
18
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
19
 (HPO:0011968) Feeding difficulties 240 / 7739
20
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0001508) Failure to thrive 454 / 7739
23
 (HPO:0001903) Anemia 289 / 7739
24
 (HPO:0002148) Hypophosphatemia 43 / 7739
25
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
26
 (HPO:0003072) Hypercalcemia 36 / 7739
27
 (HPO:0100530) Abnormality of calcium-phosphate metabolism Very frequent [Orphanet] 12 / 7739
28
 (HPO:0002789) Tachypnea 48 / 7739
29
 (HPO:0002094) Dyspnea 132 / 7739
30
 (HPO:0010547) Muscle flaccidity 466 / 7739
31
 (HPO:0003761) Calcinosis 12 / 7739
32
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
33
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
34
 (HPO:0001324) Muscle weakness 859 / 7739
35
 (OMIM) Demineralization 1 / 7739
36
 (OMIM) Neonatal primary hyperparathyroidism 1 / 7739
37
 (OMIM) Parathyroid chief-cell hyperplasia 1 / 7739
38
 (OMIM) Increased urinary cyclic AMP 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Hillman et al. (1964) described neonatal hyperparathyroidism, which they described as neonatal primary hyperparathyroidism, in 2 male sibs, offspring of first-cousin parents. Philips (1948) had earlier reported one of the sibs. Goldbloom et al. (1972) observed 2 affected ...
Molecular genetics OMIM Pollak et al. (1993) demonstrated that neonatal severe hyperparathyroidism and familial hypocalciuric hypercalcemia are both due to mutations in the parathyroid Ca(2+)-sensing receptor (see 601199.0001-601199.0003). NSHPT appeared to be caused by homozygous mutations and HCC by heterozygous mutations. ...