Overview
PTEN hamartoma tumor syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absolute lymphocyte count decrease
Very rare (1-4%)HP:0001888
Decreased serum immunoglobulin
Very rare (1-4%)HP:0004313
Susceptibility to infection
Very rare (1-4%)HP:0002719
Acrokeratosis
HP:0200016
Breast carcinoma
HP:0003002
Breast fibroadenosis
HP:0010619
Carcinoma
HP:0030731
Colonic diverticula
HP:0002253
Cystic ovaries
HP:0000138
Dull intelligence
HP:0001249
Epilepsy
HP:0001250
Gastrointestinal hamartoma
HP:0004390
Gynaecomastia
HP:0000771
Hemimegalencephaly
HP:0007206
High arched palate
HP:0000218
Hunched back
HP:0002808
Hydrocele testis
HP:0000034
Hyperthyroidism
HP:0000836
Hypoacusis
HP:0000365
Hypoplastic mandible
HP:0000347
Hypothyroidism
HP:0000821
Knapp streaks
HP:0001102
Lens opacities
HP:0000518
Lhermitte-Duclos disease
HP:0500009
Lingua plicata
HP:0000221
Mental and motor retardation
HP:0001263
Mental retardation, mild
HP:0001256
Narrow mouth
HP:0000160
Near sighted
HP:0000545
Noncancerous growth of membranes covering brain
HP:0002858
Related Conditions
Cowden syndrome(child)
Bannayan syndrome(child)
Proteus like syndrome(child)
SOLAMEN syndrome(child)
Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with early overgrowth(parent)
Hereditary disorder of the integument(parent)
Congenital hamartoma of skin(parent)
Hereditary neoplastic syndrome(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 722859001
- UMLS CUI
- C1959582
- Fully Specified Name
- PTEN hamartoma tumor syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.