Details of Disease

General Information of Disease (ID: DISW9SFJ)

Disease Name Neurodegeneration with brain iron accumulation 5
Synonyms
static encephalopathy of childhood with neurodegeneration in adulthood; neurodegeneration with brain iron accululation 5; NBIA5; BPAN; neurodegeneration with brain iron accumulation 5, X-linked dominant; static encephalopathy Of childhood with neurodegeneration In adulthood; static encephalopathy of childhood with neurdegeneration in adulthood; beta-propeller protein-associated neurodegeneration; neurodegeneration with brain iron accumulation caused by mutation in WDR45; SENDA; neurodegeneration with brain iron accumulation type 5; neurodegeneration with brain iron accumulation 5; WDR45 neurodegeneration with brain iron accumulation
Definition
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.
Disease Hierarchy
DISRK4DZ: Neurodegeneration with brain iron accumulation
DISW9SFJ: Neurodegeneration with brain iron accumulation 5
Disease Identifiers
MONDO ID
MONDO_0010476
UMLS CUI
C3550973
OMIM ID
300894
MedGen ID
763887
Orphanet ID
329284
SNOMED CT ID
732959007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 9 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WDR45 OTTN49JK Definitive X-linked [1]
ENO2 OTRODL0T moderate Biomarker [2]
ATG10 OTVRPC5X Strong Biomarker [3]
ATP13A2 OTKWBUGK Strong Genetic Variation [4]
FBXO7 OTGTN8TJ Strong Biomarker [4]
PANK1 OT2CZVRT Strong Genetic Variation [4]
PANK2 OTFBW889 Strong Genetic Variation [4]
PRKRA OTUTVZZU Strong Genetic Variation [4]
CALB1 OTM7IXDG Definitive Altered Expression [5]
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⏷ Show the Full List of 9 DOT(s)

References

1 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. doi: 10.1016/j.ajhg.2012.10.019. Epub 2012 Nov 21.
2 Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.Eur J Med Genet. 2017 Oct;60(10):521-526. doi: 10.1016/j.ejmg.2017.07.008. Epub 2017 Jul 12.
3 Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.Neuropediatrics. 2020 Feb;51(1):22-29. doi: 10.1055/s-0039-1696688. Epub 2019 Sep 10.
4 Rare causes of dystonia parkinsonism.Curr Neurol Neurosci Rep. 2010 Nov;10(6):431-9. doi: 10.1007/s11910-010-0136-0.
5 Role of Wdr45b in maintaining neural autophagy and cognitive function.Autophagy. 2020 Apr;16(4):615-625. doi: 10.1080/15548627.2019.1632621. Epub 2019 Jun 25.