Generalized arterial calcification of infancy

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ORPHA:51608OMIM:208000Q28.8
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4Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Generalized arterial calcification of infancy, also known as GACI or idiopathic infantile arterial calcification, is a very rare and serious condition that affects the blood vessels of babies. In this disease, calcium builds up inside the walls of arteries — the blood vessels that carry blood from the heart to the rest of the body. This hardening and narrowing of the arteries makes it very hard for the heart to pump blood properly, which can lead to dangerously high blood pressure and heart failure, often starting before birth or in the first few months of life. The most common symptoms include high blood pressure that is very difficult to control, heart failure, and poor feeding or breathing problems in newborns. Calcium deposits can affect arteries throughout the entire body, including those supplying the heart, kidneys, and other vital organs. Some babies also develop low phosphate levels in the blood, which can affect bone development. Treatment focuses on managing symptoms, especially controlling blood pressure and supporting heart function. The drug bisphosphonate (most often etidronate) has been used to slow or reduce calcium buildup in the arteries and has improved survival in some babies. Without treatment, this condition is often life-threatening in the first year of life, but with early and aggressive care, some children survive and improve over time.

Also known as:

Key symptoms:

Very high blood pressure in a newborn or infantHeart failure or difficulty pumping bloodPoor feeding and failure to gain weightBreathing difficultiesCalcium deposits in artery walls seen on imagingSwelling of the body due to fluid buildupPale or bluish skin colorLow levels of phosphate in the bloodSoft or abnormally shaped bones (rickets-like changes)Hearing loss in some casesJoint pain or stiffness in older surviving childrenKidney problems due to narrowed kidney arteries

Clinical phenotype terms (50)— hover any for plain English
HyperphosphaturiaHP:0003109Calcification of the auricular cartilageHP:0005103Myocardial calcificationHP:0006690Choroidal neovascularizationHP:0011506EncephalomalaciaHP:0040197Arterial calcificationHP:0003207Generalized arterial calcificationHP:0004940Calcification of the aortaHP:0004963Hepatic calcificationHP:0006559Coronary artery calcificationHP:0001717OsteomalaciaHP:0002749Hypophosphatemic ricketsHP:0004912
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Generalized arterial calcification of infancy.

View clinical trials →

No actively recruiting trials found for Generalized arterial calcification of infancy at this time.

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Specialists

4 foundView all specialists →
KM
Kurt Gunter, MD
BEVERLY, MA
Specialist
PI on 8 active trials
PM
Pedro Huertas, MD
CONCORD, MA
Specialist
PI on 1 active trial
CM
Carlos R Ferreira Lopez, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 2 active trials
AM
Alex Lai, MD
Specialist
PI on 1 active trial1 Generalized arterial calcification of infancy publication

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

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Community

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Caregiver Resources

NORD Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Which gene caused my child's GACI, and what does that mean for their specific outlook?,Should other family members be tested as carriers?,What is the plan for monitoring and treating high blood pressure at home?,How will we know if the calcium deposits in the arteries are improving or getting worse?,Are there any clinical trials or new treatments we should consider?,What specialists should be part of my child's care team, and how often should we see them?,What emergency signs should prompt us to go to the hospital immediately?

Common questions about Generalized arterial calcification of infancy

What is Generalized arterial calcification of infancy?

Generalized arterial calcification of infancy, also known as GACI or idiopathic infantile arterial calcification, is a very rare and serious condition that affects the blood vessels of babies. In this disease, calcium builds up inside the walls of arteries — the blood vessels that carry blood from the heart to the rest of the body. This hardening and narrowing of the arteries makes it very hard for the heart to pump blood properly, which can lead to dangerously high blood pressure and heart failure, often starting before birth or in the first few months of life. The most common symptoms inclu

How is Generalized arterial calcification of infancy inherited?

Generalized arterial calcification of infancy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Generalized arterial calcification of infancy typically begin?

Typical onset of Generalized arterial calcification of infancy is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Generalized arterial calcification of infancy?

4 specialists and care centers treating Generalized arterial calcification of infancy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.