Overview
Polyendocrine polyneuropathy 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.
Decreased body height
Always present (100%)HP:0004322
Delayed motor milestones
Always present (100%)HP:0001270
Elevated glycated haemoglobin
Always present (100%)HP:0040217
Polyneuropathy
Always present (100%)HP:0001271
Type I diabetes mellitus
Always present (100%)HP:0100651
Ataxia
Frequent (30-79%)HP:0001251
Cavus foot
Frequent (30-79%)HP:0001761
Corticospinal signs
Frequent (30-79%)HP:0007256
Decreased circulating follicle stimulating hormone concentration
Frequent (30-79%)HP:0030341
Decreased circulating luteinizing hormone level
Frequent (30-79%)HP:0030344
Decreased serum testosterone level
Frequent (30-79%)HP:0040171
Decreased testicular size
Frequent (30-79%)HP:0008734
Demyelinating peripheral neuropathy
Frequent (30-79%)HP:0007108
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dystonic disease
Frequent (30-79%)HP:0001332
EMG: slow motor conduction
Frequent (30-79%)HP:0100287
Growth delay as children
Frequent (30-79%)HP:0008897
Hair loss
Frequent (30-79%)HP:0001596
Isolated hypogonadotropic hypogonadism
Frequent (30-79%)HP:0000044
Low blood sugar
Frequent (30-79%)HP:0001943
Moderate mental retardation
Frequent (30-79%)HP:0002342
NIDDM
Frequent (30-79%)HP:0005978
Progressive hearing loss
Frequent (30-79%)HP:0001730
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Anterior pituitary hypoplasia
Occasional (5-29%)HP:0010627
Central hypothyroidism
Occasional (5-29%)HP:0011787
Hypoinsulinemia
Occasional (5-29%)HP:0040216
Small cerebellum
Occasional (5-29%)HP:0001321
Abnormal thyrotropin level
Excluded (<1%)HP:0031097
Abnormality of the sense of smell
Excluded (<1%)HP:0004408
Related Conditions
Hypogonadotropic hypogonadism(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of endocrine system(parent)
Hereditary disorder of nervous system(parent)
Reproductive system hereditary disorder(parent)
Disorder of the peripheral nervous system(parent)
Neurodevelopmental disorder(parent)
Recessive hereditary disorder (autosomal)(parent)
Quick Facts
- SNOMED CT
- 1260449002
- UMLS CUI
- C4015261
- Fully Specified Name
- Polyendocrine polyneuropathy 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.