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Congenital leptin deficiency

disorder
SNOMED 700150001CUI C3554224

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased serum leptin
Always present (100%)HP:0003292
Obesity
Always present (100%)HP:0001513
Absence of secondary sex characteristics
Very frequent (80-99%)HP:0008187
Decreased proportion of CD4-positive T cells
Very frequent (80-99%)HP:0032218
Decreased serum estradiol
Very frequent (80-99%)HP:0008214
Decreased serum testosterone level
Very frequent (80-99%)HP:0040171
Decreased T-lymphocyte activation
Very frequent (80-99%)HP:0005419
Decreased testicular size
Very frequent (80-99%)HP:0008734
Hyperinsulinemia
Very frequent (80-99%)HP:0000842
Hypoplastic ovary
Very frequent (80-99%)HP:0008724
Increased appetite
Very frequent (80-99%)HP:0002591
Primary amenorrhea
Very frequent (80-99%)HP:0000786
Primary hypogonadism
Very frequent (80-99%)HP:0000815
Early bone maturation
Frequent (30-79%)HP:0005616
Increased triglycerides
Frequent (30-79%)HP:0002155
Insulin-resistant diabetes
Frequent (30-79%)HP:0000831
Orthostatic hypotension due to autonomic dysfunction
Frequent (30-79%)HP:0004926
TSH deficient hypothyroidism
Frequent (30-79%)HP:0008245
Decreased activity of gonads
HP:0000135
Gynaecomastia
HP:0000771
Pneumonia, recurrent
HP:0006532
Recurrent ear infections
HP:0410018
Recurrent URI
HP:0002788
Short penis
HP:0000054

Quick Facts

SNOMED CT
700150001
UMLS CUI
C3554224
Fully Specified Name
Congenital leptin deficiency (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
24
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.