Details of Disease

General Information of Disease (ID: DIS9XEBF)

• Disease Name: Neurodegeneration with brain iron accumulation 2A
• Synonyms: neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene; Hunter Carpenter Macdonald syndrome; infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy; Hunter-Carpenter-McDonald syndrome; KARAK syndrome, included; INAD1; neuroaxonal dystrophy, infantile; Seitelberger disease; neurodegeneration with brain iron accumulation type 2A; PLAN; phospholipase A2-associated neurodegeneration; neurodegeneration, Pla2G6-associated; neurodegeneration with brain iron accumulation type 2a; neurodegeneration with brain iron accumulation 2A; neurodegeneration, PLA2G6-associated; infantile neuroaxonal dystrophy; infantile neuroaxonal dystrophy 1; inaD; NBIA2A; neurodegeneration, Pla2g6-associated
• Definition: AR PLA2G6
• Disease Hierarchy:
  DISSYRHC: Hereditary peripheral neuropathy
  DIS52D4D: PLA2G6-associated neurodegeneration
  DIS9XEBF: Neurodegeneration with brain iron accumulation 2A
• Disease Identifiers:
  MONDO ID: MONDO_0024457
  MESH ID: D019150
  UMLS CUI: C0270724
  OMIM ID: 256600
  MedGen ID: 82852
  Orphanet ID: 35069
  SNOMED CT ID: 52713000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PLA2G1B	TT9V5JH	Strong	Genetic Variation	[1]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FA2H	OT8HA13U	Limited	Genetic Variation	[2]
PLB1	OTZ6TTYV	Limited	Genetic Variation	[1]
ATP13A2	OTKWBUGK	Strong	Genetic Variation	[2]
C19orf12	OTVSJ1AR	Strong	Genetic Variation	[2]
NALCN	OTWY7DS0	Strong	Genetic Variation	[3]
PANK1	OT2CZVRT	Strong	Genetic Variation	[4]
PANK2	OTFBW889	Strong	Biomarker	[2]
TECPR2	OT1UFECZ	Strong	Biomarker	[5]
TOMM20	OT76TPR2	Strong	Biomarker	[6]
NAGA	OTNUEUZY	Definitive	Altered Expression	[7]
PLA2G6	OT5FL0WU	Definitive	Autosomal recessive	[8]

References

• [1] Mitochondria from a mouse model of the human infantile neuroaxonal dystrophy (INAD) with genetic defects in VIA iPLA2 have disturbed Ca(2+) regulation with reduction in Ca(2+) capacity.Neurochem Int. 2016 Oct;99:187-193. doi: 10.1016/j.neuint.2016.07.002. Epub 2016 Jul 7.
• [2] Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).J Neural Transm (Vienna). 2013 Apr;120(4):695-703. doi: 10.1007/s00702-012-0922-8. Epub 2012 Dec 2.
• [3] Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. J Med Genet. 2013 Aug;50(8):515-20. doi: 10.1136/jmedgenet-2013-101634. Epub 2013 Jun 7.
• [4] Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.Neurobiol Aging. 2012 Apr;33(4):814-23. doi: 10.1016/j.neurobiolaging.2010.05.009. Epub 2010 Jul 21.
• [5] TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.PLoS One. 2015 Nov 10;10(11):e0141824. doi: 10.1371/journal.pone.0141824. eCollection 2015.
• [6] High expression of -synuclein in damaged mitochondria with PLA2G6 dysfunction.Acta Neuropathol Commun. 2016 Mar 30;4:27. doi: 10.1186/s40478-016-0298-3.
• [7] Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.J Clin Invest. 1991 Aug;88(2):707-11. doi: 10.1172/JCI115357.
• [8] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.