Overview
ANE 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.
Central adrenal insufficiency
Always present (100%)HP:0011734
Small pituitary gland
Always present (100%)HP:0012506
Upper motor neuron dysfunction
Always present (100%)HP:0002493
Limb joint contracture
Very frequent (80-99%)HP:0003121
Abnormal response to ACTH stimulation test
Frequent (30-79%)HP:0031074
ACTH deficient adrenal insufficiency
Frequent (30-79%)HP:0011735
Atrophy of fat
Frequent (30-79%)HP:0100578
Decreased body height
Frequent (30-79%)HP:0004322
Decreased response to growth hormone stimulation test
Frequent (30-79%)HP:0000824
Decreased serum insulin-like growth factor 1
Frequent (30-79%)HP:0030353
Decreased serum testosterone level
Frequent (30-79%)HP:0040171
Decreased size of cranium
Frequent (30-79%)HP:0000252
Delayed puberty
Frequent (30-79%)HP:0000823
Dental cavities
Frequent (30-79%)HP:0000670
Gynaecomastia
Frequent (30-79%)HP:0000771
Hair loss
Frequent (30-79%)HP:0001596
Hyperpigmented nevi
Frequent (30-79%)HP:0007481
Hypoplasia of the pituitary gland
Frequent (30-79%)HP:0010627
Isolated hypogonadotropic hypogonadism
Frequent (30-79%)HP:0000044
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Loss of teeth
Frequent (30-79%)HP:0006480
Missing between one and six teeth
Frequent (30-79%)HP:0000668
Motor neuron atrophy
Frequent (30-79%)HP:0007373
Multiple joint contractures
Frequent (30-79%)HP:0002828
Neurogenic muscle atrophy, especially in the lower limbs
Frequent (30-79%)HP:0003202
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Patchy darkened skin
Frequent (30-79%)HP:0000953
Progressive degeneration of movement
Frequent (30-79%)HP:0002333
Retarded ossification
Frequent (30-79%)HP:0002750
Ulnar deviation of the hands
Frequent (30-79%)HP:0009487
Related Conditions
Congenital alopecia(parent)
Reproductive system hereditary disorder(parent)
Congenital hypogonadotropic hypogonadism(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the integument(parent)
Hereditary disorder of nervous system(parent)
Hereditary disorder of endocrine system(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 770941005
- UMLS CUI
- C2677535
- Fully Specified Name
- Alopecia, progressive neurological defect, endocrinopathy 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.