alpha granule disease - Symptoms, Causes & Research | Kisho | Kisho

alpha granule disease

Rare Disease

MONDO:0020117

Genes

Clinical Trials

3 total

Newborn Screening

–

Patient Groups

–

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

Evidence base: Early

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View All Trials

Data from ClinicalTrials.gov Jan 6, 2026

Clinical Trials

Research studies investigating treatments and therapies for this condition.

Active Trials

Total Trials

Filter trials on ClinicalTrials.gov:

View All Trials

Data from ClinicalTrials.gov Jan 6, 2026

Overview

Limited structured data is available for this condition. Information continues to be gathered as research progresses.(4 data sources · Data coverage: Limited)

Overview

alpha granule disease is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Symptoms & Signs

Currently, there are no known synonyms for alpha granule disease, and no associated genes or inheritance patterns have been documented. There are also no known symptoms or orphan drugs under investigation for this condition.

Prognosis & Outlook

Patients and caregivers are encouraged to seek genetic counseling to explore potential implications of this rare condition. Connecting with rare disease registries such as Orphanet may provide additional resources and support. Finding specialists experienced with ultra-rare diseases could 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

NBEAL2 PLAU

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 All Trials

Data from ClinicalTrials.gov Jan 6, 2026

Support

External Resources

Orphanet

European rare disease database

Orphanet:98455

GARD

Genetic and Rare Diseases Info Center

GARD:19469

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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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alpha granule disease

Patient-Friendly Information

Clinical Trials

Clinical Trials

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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