pantothenate kinase-associated neurodegeneration

MONDO:0009319Mondo

Findings

No curated finding names pantothenate kinase-associated neurodegeneration yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system.

Definition from the Mondo Disease Ontology (MONDO:0009319), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance
Onset and course: Infantile onset · Juvenile onset · Young adult onset · Childhood onset

Features

74 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
ChoreaHPOHP:0002072
- 1 of 1 reported patient
Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
Eye of the tiger anomaly of globus pallidusHPOHP:0002454
- 15 of 15 reported patients
- Frequent (30% to 79% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

PANK2HGNC:15894
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022

Where it sits

A kind of: neurodegeneration with brain iron accumulation
Narrower terms (2): atypical pantothenate kinase-associated neurodegeneration
classic pantothenate kinase-associated neurodegeneration

Other names

7 names

Resolves to: pantothenate kinase-associated neurodegeneration

Also called: Hallervorden-Spatz diseaseHallervorden-Spatz syndromeNBIA1neurodegeneration with brain iron accumulation 1neurodegeneration with brain iron accumulation type 1pigmentary pallidal degenerationPKAN

Show the remaining 62

Abnormality of extrapyramidal motor functionHPOHP:0002071
- Very frequent (80% to 99% of cases)
Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
Loss of ambulationHPOHP:0002505
- 5 of 14 reported patients
- Very frequent (80% to 99% of cases)
Retinal degenerationHPOHP:0000546
- Very frequent (80% to 99% of cases)
SpasticityHPOHP:0001257
- 13 of 52 reported patients
- Very frequent (80% to 99% of cases)
Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
AbetalipoproteinemiaHPOHP:0008181
- Frequent (30% to 79% of cases)
Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
AcanthocytosisHPOHP:0001927
- 6 of 66 reported patients
- Frequent (30% to 79% of cases)
Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
Bulbar signsHPOHP:0002483
- Frequent (30% to 79% of cases)
Craniofacial dystoniaHPOHP:0012179
- Frequent (30% to 79% of cases)
Iron accumulation in substantia nigraHPOHP:0012678
- Frequent (30% to 79% of cases)
Leg dystoniaHPOHP:0031959
- Frequent (30% to 79% of cases)
Limb dystoniaHPOHP:0002451
- Frequent (30% to 79% of cases)
Limb painHPOHP:0009763
- Frequent (30% to 79% of cases)
Mental deteriorationHPOHP:0001268
- 25 of 68 reported patients
- Frequent (30% to 79% of cases)
NyctalopiaHPOHP:0000662
- Frequent (30% to 79% of cases)
OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
ParkinsonismHPOHP:0001300
- Frequent (30% to 79% of cases)
Peripheral visual field lossHPOHP:0007994
- Frequent (30% to 79% of cases)
Pigmentary retinopathyHPOHP:0000580
- 4 of 14 reported patients
- Frequent (30% to 79% of cases)
Retinal flecksHPOHP:0012045
- Frequent (30% to 79% of cases)
Rod-cone dystrophyHPOHP:0000510
- Frequent (30% to 79% of cases)
Obsessive-compulsive traitHPOHP:0008770
- 7 of 14 reported patients
Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
Attention deficit hyperactivity disorderHPOHP:0007018
- Occasional (5% to 29% of cases)
BlindnessHPOHP:0000618
- Occasional (5% to 29% of cases)
Bull's eye maculopathyHPOHP:0011504
- Occasional (5% to 29% of cases)
Compulsive behaviorsHPOHP:0000722
- Occasional (5% to 29% of cases)
DementiaHPOHP:0000726
- Occasional (5% to 29% of cases)
DepressionHPOHP:0000716
- 1 of 17 reported patients
- Occasional (5% to 29% of cases)
Dysmetric vertical saccadesHPOHP:0032014
- Occasional (5% to 29% of cases)
Emotional labilityHPOHP:0000712
- Occasional (5% to 29% of cases)
Global developmental delayHPOHP:0001263
- 5 of 34 reported patients
- Occasional (5% to 29% of cases)
HyperreflexiaHPOHP:0001347
- 13 of 52 reported patients
- Occasional (5% to 29% of cases)
Impaired convergenceHPOHP:0000619
- Occasional (5% to 29% of cases)
ImpulsivityHPOHP:0100710
- Occasional (5% to 29% of cases)
Intellectual disabilityHPOHP:0001249
- 0 of 1 reported patient
- Occasional (5% to 29% of cases)
Motor delayHPOHP:0001270
- Occasional (5% to 29% of cases)
Optic atrophyHPOHP:0000648
- 3 of 80 reported patients
- Occasional (5% to 29% of cases)
PalilaliaHPOHP:0031814
- Occasional (5% to 29% of cases)
Pallidal degenerationHPOHP:0007132
- Occasional (5% to 29% of cases)
Recurrent long bone fracturesHPOHP:0003084
- Occasional (5% to 29% of cases)
Saccadic smooth pursuit interruptionsHPOHP:0001152
- Occasional (5% to 29% of cases)
Slurred speechHPOHP:0001350
- Occasional (5% to 29% of cases)
Speech articulation difficultiesHPOHP:0009088
- Occasional (5% to 29% of cases)
Square-wave jerksHPOHP:0025402
- Occasional (5% to 29% of cases)
TachylaliaHPOHP:0031937
- Occasional (5% to 29% of cases)
TicsHPOHP:0100033
- Occasional (5% to 29% of cases)
Tip-toe gaitHPOHP:0030051
- Occasional (5% to 29% of cases)
Toe extensor amyotrophyHPOHP:0011916
- Occasional (5% to 29% of cases)
Visual field defectHPOHP:0001123
- Occasional (5% to 29% of cases)
DysphagiaHPOHP:0002015
- 5 of 14 reported patients
HyperactivityHPOHP:0000752
- 4 of 14 reported patients
Babinski signHPOHP:0003487
- 13 of 52 reported patients
Intention tremorHPOHP:0002080
- Very rare (1% to 4% of cases)
Psychotic mentationHPOHP:0001345
- Very rare (1% to 4% of cases)
Motor ticsHPOHP:0100034
- 2 of 14 reported patients
TremorHPOHP:0001337
- 2 of 14 reported patients
AkinesiaHPOHP:0002304
- 2 of 16 reported patients
Phonic ticsHPOHP:0100035
- 1 of 14 reported patients