How is Dent disease type 2 inherited?

Dent disease type 2 follows an X-linked inheritance pattern. Because the gene is located on the X chromosome, the condition may affect males and females differently.

How rare is Dent disease type 2?

Dent disease type 2 is classified as not well established. The estimated prevalence is approximately Unknown. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Dent disease type 2 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Dent disease type 2?

Information about treatment options and management approaches is currently limited for this condition.

What complications can arise from Dent disease type 2?

Dent disease type 2 can lead to kidney problems similar to those in Dent disease type 1. While specific complications are not detailed, kidney-related issues can affect how well the kidneys function. It's important to monitor kidney health regularly to manage any potential complications.

How does Dent disease type 2 affect daily life?

Living with Dent disease type 2 may involve managing kidney-related symptoms and possibly other symptoms affecting different parts of the body. Daily life can be impacted by the need for regular medical check-ups and monitoring of kidney function. Families may need to adjust activities based on the individual's health needs.

What is the prognosis for someone with Dent disease type 2?

Currently, there is limited information about the long-term outlook for individuals with Dent disease type 2. The prognosis may vary depending on the severity of kidney issues and any additional symptoms. Regular follow-up with healthcare providers is important for managing health and understanding individual outcomes.

Should families consider genetic counseling for Dent disease type 2?

Yes, families may benefit from genetic counseling when dealing with Dent disease type 2. Since this condition is inherited in an X-linked recessive pattern, understanding the genetic aspects can help families make informed decisions about family planning and managing the condition. A genetic counselor can provide valuable information and support.

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Dent disease type 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Dent disease type 2

MONDO:0010359

Also known as:Dent disease caused by mutation in OCRLOCRL Dent diseasedent disease 2, X-linked recessive

Overview

Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.

GeneticsX-linked · OCRL (chr X)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Low-molecular-weight proteinuria and Hypercalciuria; and common findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating aspartate aminotransferase concentration, Aminoaciduria, and Elevated circulating alanine aminotransferase concentration and others. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

OCRL encodes OCRL inositol polyphosphate-5-phosphatase (901 aa). Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2. Highest expression in Esophagus Gastroesophageal Junction (60.2 TPM) and Esophagus Muscularis (56.6 TPM).

Dent disease type 2 is associated with mutations in the OCRL gene on chromosome X.

The OCRL protein participates in RHOF GAPs stimulate RHOF GTPase activity and Endophilins recruit synaptojanins to the clathrin-coated pit pathways.

OCRL is classified as a druggable target (Druggable Genome and Enzyme categories) with score 7.5.

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

Dent disease should be suspected in an individual with the three criteria below in the absence of other known causes of proximal tubule dysfunction . Note: A possible diagnosis of Dent disease is considered if LMW proteinuria and at least one other criterion are present.

Source: GeneReviews — "Dent Disease"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Dent disease type 2. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with Dent disease, the following evaluations are recommended if they have not already been completed:

Assessment of renal function (measured or estimated GFR; urine protein excretion)

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Renal function measured as glomerular filtration rate (GFR) should be monitored at least annually together with the parameters used to stage chronic kidney disease (i.e., blood pressure, hematocrit/hemoglobin, urinary calcium excretion, and serum calcium and phosphorus concentrations). More frequent visits and monitoring for complications of chronic kidney disease (i.e., hypertension, anemia, and secondary hyperparathyroidism) as well as consideration of intensified treatment of cardiovascular risk factors may be indicated if GFR falls below 45 mL/min/1.73 m2 (CKD Stage 3B).

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 Dent disease type 2.

13 publications have been identified in PubMed for Dent disease type 2. Research spans Case Report / Case Series (54%), Review / Meta-Analysis (31%), and Basic Science / Preclinical (8%).

Research Type	Count	% of Total
Patient case studies	7	54%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300555

Orphanet

European rare disease database

Orphanet:93623

GARD

Genetic and Rare Diseases Info Center

GARD:10645

Questions for Your Care Team

→Should female family members consider carrier screening for OCRL?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Dent disease type 2

Dent disease type 2 is a form of Dent disease that shows the kidney problems seen in Dent disease type 1 along with additional features affecting other parts of the body. The condition is characterized by its association with both renal and extra-renal manifestations, although specific extra-renal details are not extensively outlined in the available information. The information provided emphasizes that the condition shares underlying kidney-related symptoms with Dent disease type 1. This overview provides a basic understanding of the disease in terms of its clinical presentation, while recognizing that more detailed descriptions may be available in specialized medical literature.

People with Dent disease type 2 may experience kidney-related issues similar to those seen in Dent disease type 1, as well as additional symptoms affecting other parts of the body. However, detailed information about the specific symptoms and signs for this condition is limited.

Dent disease type 2 is caused by a mutation in the OCRL gene. This genetic change affects the function of cells in the kidney and other tissues and is inherited in an X-linked recessive pattern. Associated genes include OCRL.

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Kisho

Dent disease type 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Dent disease type 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Dent disease type 2?

What are the symptoms of Dent disease type 2?

What causes Dent disease type 2?

How is Dent disease type 2 inherited?

How rare is Dent disease type 2?

How is Dent disease type 2 diagnosed?

Are there treatments for Dent disease type 2?

What complications can arise from Dent disease type 2?

How does Dent disease type 2 affect daily life?

What is the prognosis for someone with Dent disease type 2?

Should families consider genetic counseling for Dent disease type 2?

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications