ORPHA:417
Neonatal severe primary hyperparathyroidism
Synonyms: NSHPT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Neonatal
- Status
- active
Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal severe primary hyperparathyroidism | NSHPT |
| fr | Hyperparathyroïdie primitive sévère néonatale | = en |
| de | Hyperparathyroidismus, neonataler primärer schwerer | = en |
| es | Hiperparatiroidismo primario neonatal grave | = en |
| it | Iperparatiroidismo primitivo grave neonatale | = en |
| nl | Neonatale ernstige primaire hyperparathyreoïdie | = en |
| pt | Hiperparatiroidismo primário grave neonatal | |
| pl | Ciężka pierwotna nadczynność przytarczyc noworodków | = en |
| cs | Novorozenecká těžká primární hyperparathyreóza | = en |
| uk | Неонатальний тяжкий первинний гіперпаратиреоз | = en |
| zh | 新生儿重症原发性甲状旁腺功能亢进 | = en |
| tr | Yenidoğan ağır primer hiperparatiroidizmi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 239200 | E | validated | |
| OMIM | 618188 | BTNT | validated | |
| ICD-10 | E21.0 | NTBT | attributed | validated |
| ICD-11 | 5A51.0 | NTBT | index | validated |
| MONDO | 0009397 | E | validated | |
| MeSH | C563375 | E | validated | |
| UMLS | C1832615 | E | validated | |
| GARD | 2838 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:208596Genetic hyperparathyroidism
rare genetic diseases - ORPHA:93447Primary bone dysplasia with defective bone mineralization
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:181408Rare hyperparathyroidism
rare endocrine diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CASR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1514 | ENSG00000036828 | 601199 | 3q13.33-q21.1 | calcium sensing receptor | |
| TRPV6 | Disease-causing germline mutation(s) in | Assessed | HGNC:14006 | ENSG00000165125 | 606680 | 7q34 | transient receptor potential cation channel subfamily V member 6 | 29861107[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0003355 | Aminoaciduria | |
| HP:0002240 | Hepatomegaly | |
| HP:0001252 | Hypotonia | |
| HP:0000774 | Narrow chest | |
| HP:0002757 | Recurrent fractures | |
| HP:0004322 | Short stature | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/417
- This record as JSON: /data/d/417.json