Overview
Familial hypertryptophanemia 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.
High blood tryptophan concentration
Very frequent (80-99%)HP:0500134
Increased serum serotonin
Very frequent (80-99%)HP:0003144
Aggression
HP:0000718
Depressive episode
HP:0000716
Dropped arches
HP:0001763
Emotional lability
HP:0000712
Generalized joint laxity
HP:0002761
High urine tryptophan levels
HP:0003361
Impaired vision
HP:0000505
Increased distance between eyes
HP:0000316
Increased sexual behaviour
HP:5200321
Limited forearm extension
HP:0001377
Moderate mental retardation
HP:0002342
Near sighted
HP:0000545
Nonprogressive mental retardation
Excluded (<1%)HP:0001249
Proximal interphalangeal finger joint contractures
HP:0100490
Psychomotor development deficiency
Excluded (<1%)HP:0001263
Sensorineural deafness
HP:0000407
Squint
HP:0000486
Stuttering
HP:0025268
Thumb-in-palm pattern
HP:0001181
Quick Facts
- SNOMED CT
- 721838005
- UMLS CUI
- C2931837
- Fully Specified Name
- Familial hypertryptophanemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.