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Participant 119

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Male, age 18, with weak and brittle bones (osteoporosis), immune system abnormalities (antinuclear antibody positivity), and type 1 diabetes mellitus

Date of Report

Jun 30, 2021


After intentionally losing a significant amount of weight at age 14, the participant began to experience back pain and was later hospitalized for generalized tissue swelling (anasarca) as well as high blood sugar levels. He was identified to have weak and brittle bones (osteoporosis), fractures of bones of the spine (vertebral compression fractures), and type 1 diabetes mellitus. Some of his additional symptoms include adrenal insufficiency and immune system abnormalities (antinuclear antibody positivity).

Symptoms / Signs
  • Weak and brittle bones (osteoporosis)
  • Fractures of bones of spine (vertebral compression fractures)
  • Generalized tissue swelling (anasarca)
  • Adrenal insufficiency
  • Type 1 diabetes mellitus
  • Abdominal pain
  • Immune system abnormalities (antinuclear antibody positivity)
Current Treatments
  • Zoledronic acid – bone health
  • Insulin – diabetes
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Congenital disorder of glycosylation
  • Metabolic bone disease
  • Microdeletion/duplication disorder
  • Mitochondrial disorder
Other Photographs
Genetic Variants of Interest
Inheritance Pattern
Position (hg19)
DNA Change
Protein Change

If this participant sounds like you or someone you know, please contact us!


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