Atypical pantothenate kinase associated neurodegeneration

disorder

SNOMED 1186856001CUI C5568621

Overview

Atypical pantothenate kinase associated neurodegeneration 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.

Depression

Frequent (30-79%)HP:0000716

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Emotional lability

Frequent (30-79%)HP:0000712

Focal dystonia

Frequent (30-79%)HP:0004373

Impulsivity

Frequent (30-79%)HP:0100710

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Irritable mood

Frequent (30-79%)HP:0000737

Limb dystonia

Frequent (30-79%)HP:0002451

Muscle rigidity

Frequent (30-79%)HP:0002063

Parkinsonian disease

Frequent (30-79%)HP:0001300

Pyramidal tract dysfunction

Frequent (30-79%)HP:0002493

Violent behavior

Frequent (30-79%)HP:0008760

Abnormal vocalization

Occasional (5-29%)HP:0002167

Choreiform movements

Occasional (5-29%)HP:0002072

Corticospinal signs

Occasional (5-29%)HP:0007256

Deglutition disorder

Occasional (5-29%)HP:0002015

Gait disturbance

Occasional (5-29%)HP:0001288

Inertia

Occasional (5-29%)HP:0030216

Intellectual impairment

Occasional (5-29%)HP:0100543

OCD

Occasional (5-29%)HP:0000722

Oromandibular dystonia

Occasional (5-29%)HP:0012048

Tremor

Occasional (5-29%)HP:0001337

Blindness

Very rare (1-4%)HP:0000618

Clumsiness

Very rare (1-4%)HP:0002312

Frequent falls

Very rare (1-4%)HP:0002359

Noninflammatory retina disease

Very rare (1-4%)HP:0000488

Optic atrophy

Very rare (1-4%)HP:0000648

Psychosis

Very rare (1-4%)HP:0000709

Wasting of the tongue

Very rare (1-4%)HP:0012473

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Pigmentary pallidal degeneration(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1186856001
UMLS CUI: C5568621
Fully Specified Name: Atypical pantothenate kinase associated neurodegeneration (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.