Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

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ORPHA:90795OMIM:202010E25.0
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7Specialists8Treatment centers

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

Also known as:

Clinical phenotype terms— hover any for plain English:

Growth abnormalityHP:0001507Decreased circulating renin concentrationHP:0003351Increased circulating androstenedione concentrationHP:0025380Increased circulating androgen concentrationHP:0030348Elevated circulating 17-hydroxyprogesterone concentrationHP:0031213Increased urinary 11-deoxycorticosterone levelHP:0032330Long penisHP:0000040Ambiguous genitalia, femaleHP:0000061Irregular menstruationHP:0000858Increased circulating ACTH levelHP:0003154
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.

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No actively recruiting trials found for Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency at this time.

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Specialists

7 foundView all specialists →
ES
Elida Mercado Santis
Specialist
1 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency publication
AC
Ariadna Campos
WOODLAND, CA
Specialist
1 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency publication
PF
Paula Fernández
Specialist
1 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency publication
JO
Josep Oriola
Specialist
1 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency publication
DY
Diego Yeste
Specialist
1 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency publication
VP
Víctor Pérez
Specialist
1 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency publication
MC
María Clemente
Specialist
1 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 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

No travel grants are currently matched to Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

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Caregiver Resources

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Common questions about Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Which specialists treat Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency?

7 specialists and care centers treating Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.