hypophosphatemic rickets, autosomal recessive, 2
Findings
No curated finding names hypophosphatemic rickets, autosomal recessive, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013219), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Hypophosphatemic ricketsHPOHP:0004912
- 5 of 5 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 4 of 5 reported patients
- Short statureHPOHP:0004322
- 4 of 5 reported patients
- Genu varumHPOHP:0002970
- 3 of 5 reported patients
- Coxa valgaHPOHP:0002673
- 1 of 5 reported patients
- Medullary nephrocalcinosisHPOHP:0012408
- 1 of 5 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.
- ENPP1HGNC:3356
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
4 names
Resolves to: hypophosphatemic rickets, autosomal recessive, 2
- Also called
- autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1Autosomal Recessive Hypophosphatemic Rickets Type 2ENPP1 autosomal recessive hypophosphatemic ricketshypophosphatemic rickets, autosomal recessive, type 2