Obesity due to SIM bHLH transcription factor 1 deficiency

disorder

SNOMED 783719006CUI C5191050

Overview

Obesity due to SIM bHLH transcription factor 1 deficiency 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.

Autonomic dysregulation

Very frequent (80-99%)HP:0012332

Hyperinsulinemia

Very frequent (80-99%)HP:0000842

Hypotension

Very frequent (80-99%)HP:0002615

Increased appetite

Very frequent (80-99%)HP:0002591

Intellectual impairment

Very frequent (80-99%)HP:0100543

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Obesity

Very frequent (80-99%)HP:0001513

Postural hypotension with compensatory tachycardia

Very frequent (80-99%)HP:0005307

Reduced blood thiamine level

Very frequent (80-99%)HP:0100503

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Memory impairment

Frequent (30-79%)HP:0002354

Abnormal glucose tolerance

Occasional (5-29%)HP:0001952

ASD

Occasional (5-29%)HP:0000729

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Severe obesity(parent)

Genetic non-syndromic childhood obesity(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 783719006
UMLS CUI: C5191050
Fully Specified Name: Obesity due to SIM bHLH transcription factor 1 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.