Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome

disorder

SNOMED 1255271005CUI C4015436

Overview

Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration 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 motor nerve conduction velocity

Always present (100%)HP:0003431

Decreased sensory NCV

Always present (100%)HP:0003448

Elevated glycated haemoglobin

Always present (100%)HP:0040217

Neuropathy

Always present (100%)HP:0009830

Sensorineural deafness

Always present (100%)HP:0000407

Type I diabetes mellitus

Always present (100%)HP:0100651

Areflexia in lower limbs

Frequent (30-79%)HP:0002522

Bilateral nerve deafness

Frequent (30-79%)HP:0008619

Brainstem atrophy

Frequent (30-79%)HP:0007366

Decreased body height

Frequent (30-79%)HP:0004322

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Degeneration of the spinal cord

Frequent (30-79%)HP:0006827

Demyelinating peripheral neuropathy

Frequent (30-79%)HP:0007108

Diabetes mellitus

Frequent (30-79%)HP:0000819

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Sensory ataxia

Frequent (30-79%)HP:0010871

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Weight less than 3rd percentile

Frequent (30-79%)HP:0004325

Cognitive deficits

Occasional (5-29%)HP:0100543

Extensor plantar responses

Occasional (5-29%)HP:0003487

Mental retardation, mild

Occasional (5-29%)HP:0001256

Anti-IA2A

Excluded (<1%)HP:0034063

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Hereditary disorder of endocrine system(parent)

Disorder of the peripheral nervous system(parent)

Sensorineural hearing loss(parent)

Hereditary ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Diabetes mellitus type I(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 1255271005
UMLS CUI: C4015436
Fully Specified Name: Type 1 diabetes mellitus, central and peripheral neurodegeneration syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.