Atypical pantothenate kinase-associated neurodegeneration

Summary

Atypical pantothenate kinase-associated neurodegeneration (MONDO:0016305) 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): 30

Clinical features

Signs & symptoms

Clinical features (HPO)

30 HPO clinical features (Orphanet curated; top 30 by frequency):

HPO ID	Term	Frequency
HP:0000712	Emotional lability	Frequent (30-79%)
HP:0000716	Depression	Frequent (30-79%)
HP:0000737	Irritability	Frequent (30-79%)
HP:0001257	Spasticity	Frequent (30-79%)
HP:0001260	Dysarthria	Frequent (30-79%)
HP:0001300	Parkinsonism	Frequent (30-79%)
HP:0001347	Hyperreflexia	Frequent (30-79%)
HP:0002063	Rigidity	Frequent (30-79%)
HP:0002451	Limb dystonia	Frequent (30-79%)
HP:0002493	Upper motor neuron dysfunction	Frequent (30-79%)
HP:0004373	Focal dystonia	Frequent (30-79%)
HP:0008760	Violent behavior	Frequent (30-79%)
HP:0100710	Impulsivity	Frequent (30-79%)
HP:0000722	Compulsive behaviors	Occasional (5-29%)
HP:0001288	Gait disturbance	Occasional (5-29%)
HP:0001337	Tremor	Occasional (5-29%)
HP:0002015	Dysphagia	Occasional (5-29%)
HP:0002072	Chorea	Occasional (5-29%)
HP:0002167	Abnormality of speech or vocalization	Occasional (5-29%)
HP:0007256	Abnormal pyramidal sign	Occasional (5-29%)
HP:0012048	Oromandibular dystonia	Occasional (5-29%)
HP:0030216	Inertia	Occasional (5-29%)
HP:0100543	Cognitive impairment	Occasional (5-29%)
HP:0000488	Retinopathy	Very rare (<1-4%)
HP:0000618	Blindness	Very rare (<1-4%)
HP:0000648	Optic atrophy	Very rare (<1-4%)
HP:0000709	Psychosis	Very rare (<1-4%)
HP:0002312	Clumsiness	Very rare (<1-4%)
HP:0002359	Frequent falls	Very rare (<1-4%)
HP:0012473	Tongue atrophy	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	atypical pantothenate kinase-associated neurodegeneration
Mondo ID	MONDO:0016305
Orphanet	216873
UMLS	C5568621
MedGen	1800044
GARD	0017115
Is cancer (heuristic)	no

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

Data availability: 7 cell lines.

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 › atypical pantothenate kinase-associated neurodegeneration

Related subtypes (1): classic 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.