Classic pantothenate kinase-associated neurodegeneration

Summary

Classic pantothenate kinase-associated neurodegeneration (MONDO:0016304) is a disease. A subtype of pantothenate kinase-associated neurodegeneration — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 28

Clinical features

Signs & symptoms

Clinical features (HPO)

28 HPO clinical features (Orphanet curated; top 28 by frequency):

HPO ID	Term	Frequency
HP:0001288	Gait disturbance	Very frequent (80-99%)
HP:0000157	Abnormality of the tongue	Frequent (30-79%)
HP:0000510	Rod-cone dystrophy	Frequent (30-79%)
HP:0000543	Optic disc pallor	Frequent (30-79%)
HP:0000580	Pigmentary retinopathy	Frequent (30-79%)
HP:0001257	Spasticity	Frequent (30-79%)
HP:0001260	Dysarthria	Frequent (30-79%)
HP:0001347	Hyperreflexia	Frequent (30-79%)
HP:0002015	Dysphagia	Frequent (30-79%)
HP:0002359	Frequent falls	Frequent (30-79%)
HP:0002454	Eye of the tiger anomaly of globus pallidus	Frequent (30-79%)
HP:0002533	Abnormal posturing	Frequent (30-79%)
HP:0002540	Inability to walk	Frequent (30-79%)
HP:0002659	Increased susceptibility to fractures	Frequent (30-79%)
HP:0003552	Muscle stiffness	Frequent (30-79%)
HP:0007018	Attention deficit hyperactivity disorder	Frequent (30-79%)
HP:0007325	Generalized dystonia	Frequent (30-79%)
HP:0012675	Iron accumulation in brain	Frequent (30-79%)
HP:0030051	Tip-toe gait	Frequent (30-79%)
HP:0100543	Cognitive impairment	Frequent (30-79%)
HP:0000298	Mask-like facies	Occasional (5-29%)
HP:0001263	Global developmental delay	Occasional (5-29%)
HP:0001824	Weight loss	Occasional (5-29%)
HP:0002179	Opisthotonus	Occasional (5-29%)
HP:0011951	Aspiration pneumonia	Occasional (5-29%)
HP:0012735	Cough	Occasional (5-29%)
HP:0000618	Blindness	Very rare (<1-4%)
HP:0001250	Seizure	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	classic pantothenate kinase-associated neurodegeneration
Mondo ID	MONDO:0016304
Orphanet	216866
UMLS	C5679812
MedGen	1826057
GARD	0017114
Is cancer (heuristic)	no

Also known as: NBIA1, classic form · neurodegeneration with brain iron accumulation type 1, classic form · PKAN, classic form

Disease family

This is a subtype of pantothenate kinase-associated neurodegeneration. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › mineral metabolism disease › iron metabolism disease › neurodegeneration with brain iron accumulation › pantothenate kinase-associated neurodegeneration › classic pantothenate kinase-associated neurodegeneration

Related subtypes (1): atypical pantothenate kinase-associated neurodegeneration

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.