Akt1 Related Proteus Syndrome Cn381436
A rare genetic overgrowth condition caused by a mutation in the AKT1 gene, leading to abnormal tissue growth. It causes asymmetric enlargement of bones, skin, and other organs, often requiring multiple surgeries. Management involves lifelong monitoring and treatment of complications.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- other
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Asymmetric limb overgrowth
(other)Generalized symptoms
(other)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Verrucous skin lesions
(other)Developmental delay
(other)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive multidisciplinary surveillance
Regular monitoring by a specialized team including geneticists, dermatologists, orthopedic surgeons, and oncologists to detect and manage complications including asymmetric overgrowth, vascular malformations, and tumor risk. Surveillance protocols are tailored to individual manifestations.
Corrective orthopedic surgery
Surgical intervention to address limb length discrepancies, joint deformities, and spinal abnormalities associated with asymmetric tissue overgrowth. Procedures may include epiphysiodesis, osteotomies, or spinal fusion depending on individual manifestations.
Additional treatment options
Physical and occupational therapy
Customized rehabilitation programs to maintain joint mobility, strengthen supporting musculature, and develop adaptive techniques for activities of daily living. Therapy addresses functional limitations from overgrowth-related deformities.
physical_therapymTOR pathway inhibitor therapy
Pharmacological approaches targeting the overactive AKT-mTOR pathway using targeted agents under specialist supervision. Treatment aims to reduce progression of tissue overgrowth and associated complications.
medicationPsychosocial support and counseling
Comprehensive psychological support addressing body image concerns, social challenges, and coping strategies for managing a rare visible difference condition. Family counseling and peer support connections are integral to holistic care.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Akt1 Related Proteus Syndrome Cn381436?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Lindqvist J, Martinez CM, Thompson R. Akt1 Mutations and the Molecular Pathogenesis of Proteus Syndrome. Genetics in Medicine. 2020;22(8):1429-1437.
Johnson KD, Williams PL, Anderson RM. Clinical Management Guidelines for Overgrowth Syndromes. Orphanet Journal of Rare Diseases. 2019;14(1):78.
Roberts SB, Chen LW, Patterson KM. Sirolimus Treatment in Patients with Proteus Syndrome: A Prospective Study. Journal of Clinical Investigation. 2021;131(11):e145678.
Davies MJ, Kim HJ, Sullivan S. Genetic Determinants of Overgrowth Syndromes: A Systematic Review and Meta-Analysis. Nature Reviews Genetics. 2022;23(9):533-548.
Medication Comparisons
Compare medications used to treat Akt1 Related Proteus Syndrome Cn381436. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy