Overview
Lathosterolosis 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.
Alanine aminotransferase increased
Always present (100%)HP:0031964
Ambiguous genitalia in males
Always present (100%)HP:0000033
Elevated alkaline phosphatase
Always present (100%)HP:0003155
Elevated circulating lathosterol concentration
Always present (100%)HP:0034936
Elevated gamma-glutamyltransferase level
Always present (100%)HP:0030948
Elevated serum aspartate aminotransferase
Always present (100%)HP:0031956
Full upper lip
Always present (100%)HP:0000215
High blood ammonia levels
Always present (100%)HP:0001987
High blood bilirubin levels
Always present (100%)HP:0002904
Hypertrophied alveolar ridge
Always present (100%)HP:0009085
Large tip of nose
Always present (100%)HP:0005274
Liver fibrosis
Always present (100%)HP:0001395
Osteoporosis
Always present (100%)HP:0000939
Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts
Always present (100%)HP:6000199
Sagittal clefting of vertebrae
Always present (100%)HP:0003316
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Fibular polydactyly
Very frequent (80-99%)HP:0001830
Hypoplasia of penis
Very frequent (80-99%)HP:0008736
Lens opacities
Very frequent (80-99%)HP:0000518
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Specific learning disability
Very frequent (80-99%)HP:0001328
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Abnormal shape of platelets
Frequent (30-79%)HP:0011875
Abnormality of the thoracic spine
Frequent (30-79%)HP:0100711
Anisopoikilocytosis
Frequent (30-79%)HP:0004823
Arnold-Chiari type II malformation
Frequent (30-79%)HP:0025660
Big cheeks
Frequent (30-79%)HP:0000293
Bilobate gallbladder
Frequent (30-79%)HP:0005608
Biparietal narrowing
Frequent (30-79%)HP:0004422
Cerebellar cortex degeneration
Frequent (30-79%)HP:0008278
Quick Facts
- SNOMED CT
- 719257008
- UMLS CUI
- C1846421
- Fully Specified Name
- Lathosterolosis (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.