autosomal recessive hypophosphatemic rickets (ARHR) - Symptoms, Causes & Research | Kisho | Kisho

autosomal recessive hypophosphatemic rickets

Rare Disease

MONDO:0017324

Also known as:

ARHRautosomal recessive hereditary hypophosphatemic ricketshereditary hypophosphatemic rickets, autosomal recessive

Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth.

Genes

Clinical Trials

6 active

Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

Evidence base: Developing

Find Clinical TrialsTrials

Associated Genes

2 genes

DMP1 ENPP1

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

2 genes

DMP1 ENPP1

Gene data from HGNC • Click to view on NCBI Gene

Overview

This report reflects available clinical information. Some areas may remain under active research.(6 data sources · Data coverage: Moderate)

Overview

Autosomal recessive hypophosphatemic rickets is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

This condition is characterized by renal phosphate wasting, leading to hypophosphatemia, rickets, and/or osteomalacia. The inheritance pattern is autosomal recessive, but specific symptoms and associated genes are not documented. Currently, there are no orphan drug designations under investigation.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries, such as NORD or Orphanet, may provide additional resources and support. Finding specialists experienced in managing similar conditions can also be beneficial.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

2 genes

DMP1 ENPP1

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View Recruiting Trials View All Trials

Data from ClinicalTrials.gov Jan 7, 2026

Support

External Resources

Orphanet

European rare disease database

Orphanet:289176

GARD

Genetic and Rare Diseases Info Center

GARD:17320

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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

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autosomal recessive hypophosphatemic rickets

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Prognosis & Outlook

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Clinical Trials

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

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