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autosomal dominant hypophosphatemic rickets (ADHR) - Clinical Profile, Genes & Research | Kisho | Kisho

Organ System	Phenotype Count	Example Features
Bones and joints	4	Bone pain, Rickets, Osteomalacia
Muscles	2	Generalized muscle weakness, Renal phosphate wasting
Growth and development	1	Short stature
Lab test results	1	Elevated circulating alkaline phosphatase concentration
Arms and legs	1	Abnormality of the lower limb
Kidneys and urinary system	1	Renal phosphate wasting

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Hyperphosphatemic familial tumoral calcinosis (HFTC) should be suspected in individuals with the following clinical, laboratory, and/or imaging findings.

Clinical Findings

Tumoral calcinosis or ectopic calcifications are typically seen in periarticular soft tissues exposed to repetitive trauma or prolonged pressure, such as the hips, elbows, and shoulders; they can also be observed in other locations ranging from the eyelid to the submucosa of the large intestines . Hyperostosis. Some affected individuals experience transient but recurrent episodes of pain in the long bones, typically the tibia, associated with erythema, edema, and warmth of the overlying skin .

Source: GeneReviews — "Hyperphosphatemic Familial Tumoral Calcinosis"

GeneReviews

Differential Diagnosis

Table 2. Genetic Disorders to Consider in the Differential Diagnosis of Hyperphosphatemic Familial Tumoral Calcinosis

Disorder	Gene(s)	MOI	Features of This Disorder
UROD	AD	Dystrophic calcification in areas of pseudoscleroderma	—
Ulcerated areas at pseudoscleroderma sites in some	Normal blood phosphorus	Blistering skin fragility w/sun exposure; Hypertrichosis/ hyperpigmentation; Pseudoscleroderma; Increased urinary excretion of uroporphyrin Normophosphatemicfamilial tumoralcalcinosis(OMIM 610455)

Genetic testing for FGF23 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant hypophosphatemic rickets.

11 publications have been identified in PubMed for autosomal dominant hypophosphatemic rickets. Research spans Case Report / Case Series (64%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Patient case studies	7	64%
Research summaries	2	18%
Laboratory research	1	9%
Disease patterns and progression	1	9%

Recent Publications

Bruneau H (2026). [PMID: 42138629](https://pubmed.ncbi.nlm.nih.gov/42138629/). *Arch Endocrinol Metab*. [Review / Meta-Analysis]
Mumbach G (2025). [PMID: 40745420](https://pubmed.ncbi.nlm.nih.gov/40745420/). *Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA*. [Basic Science / Preclinical]
Aytaç Kaplan EH (2025). [PMID: 41165099](https://pubmed.ncbi.nlm.nih.gov/41165099/). *Journal of clinical research in pediatric endocrinology*. [Case Report / Case Series]
Tanaka H (2025). [PMID: 38493780](https://pubmed.ncbi.nlm.nih.gov/38493780/). *Hormone research in paediatrics*. [Case Report / Case Series]
Takishima S (2025). [PMID: 41049519](https://pubmed.ncbi.nlm.nih.gov/41049519/). *Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology*. [Case Report / Case Series]
Park YA (2025). [PMID: 41445556](https://pubmed.ncbi.nlm.nih.gov/41445556/). *JBMR plus*. [Review / Meta-Analysis]
Dogra PM (2024). [PMID: 39877493](https://pubmed.ncbi.nlm.nih.gov/39877493/). *Nigerian medical journal : journal of the Nigeria Medical Association*. [Case Report / Case Series]
Giuca MR (2024). [PMID: 39212455](https://pubmed.ncbi.nlm.nih.gov/39212455/). *European journal of paediatric dentistry*. [Epidemiology / Natural History]
Duan X (2024). [PMID: 38847469](https://pubmed.ncbi.nlm.nih.gov/38847469/). *Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research*. [Case Report / Case Series]
Ito N (2024). [PMID: 38467164](https://pubmed.ncbi.nlm.nih.gov/38467164/). *Endocrinology and metabolism (Seoul, Korea)*. [Case Report / Case Series]

Kisho

autosomal dominant hypophosphatemic rickets

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Differential Diagnosis

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

autosomal dominant hypophosphatemic rickets

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Differential Diagnosis

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team