hypoparathyroidism, familial isolated 1
MONDO:0007796Mondo
Findings
No curated finding names hypoparathyroidism, familial isolated 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Episodic
HPO, annotations 2026-09-02
Features
9 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.
- Decreased circulating parathyroid hormone levelHPOHP:0031817
- 2 of 2 reported patients
- HyperphosphatemiaHPOHP:0002905
- 2 of 2 reported patients
- HypocalcemiaHPOHP:0002901
- 2 of 2 reported patients
- Hypocalcemic seizuresHPOHP:0002199
- 2 of 2 reported patients
- HypoparathyroidismHPOHP:0000829
- 2 of 2 reported patients
- Chvostek signHPOHP:0031990
- 1 of 2 reported patients
- IrritabilityHPOHP:0000737
- 1 of 2 reported patients
- NephrocalcinosisHPOHP:0000121
- 1 of 2 reported patients
- TetanyHPOHP:0001281
- 1 of 2 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.
- PTHHGNC:9606
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: hypoparathyroidism, familial isolated 1
- Also called
- FIH1