hyperparathyroidism, transient neonatal
MONDO:0032591Mondo
Findings
No curated finding names hyperparathyroidism, transient neonatal yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Third trimester onset
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 6 of 6 reported patients
- HyperparathyroidismHPOHP:0000843
- 6 of 6 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 6 reported patients
- Motor delayHPOHP:0001270
- 3 of 6 reported patients
- PolyhydramniosHPOHP:0001561
- 3 of 6 reported patients
- OsteopeniaHPOHP:0000938
- 2 of 6 reported patients
- Femoral bowingHPOHP:0002980
- 3 of 12 reported patients
- Absent speechHPOHP:0001344
- 1 of 6 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 6 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 6 reported patients
- Communicating hydrocephalusHPOHP:0001334
- 1 of 6 reported patients
- Congenital nystagmusHPOHP:0006934
- 1 of 6 reported patients
Show the remaining 29
- Delayed speech and language developmentHPOHP:0000750
- 1 of 6 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 6 reported patients
- Enlarged kidneyHPOHP:0000105
- 1 of 6 reported patients
- Fractured ribHPOHP:0041159
- 1 of 6 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 6 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 6 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TRPV6HGNC:14006
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: hyperparathyroidism, transient neonatal
- Also called
- HRPTTN