Details of Disease

General Information of Disease (ID: DISCP7UV)

• Disease Name: Aural atresia, congenital
• Synonyms: aural atresia, congenital, with hyposmia; CAA; aural atresia, congenital
• Disease Hierarchy:
  DISUEW2W: Hereditary otorhinolaryngologic disease
  DISCP7UV: Aural atresia, congenital
• Disease Identifiers:
  MONDO ID: MONDO_0011921
  UMLS CUI: C1842937
  OMIM ID: 607842
  MedGen ID: 375051

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BACE1	TTJUNZF	moderate	Biomarker	[1]
APCS	TTB7VAT	Strong	Biomarker	[2]
CGA	TTFC29G	Strong	Genetic Variation	[3]
CLU	TTRL76H	Strong	Biomarker	[4]
DLG4	TT9PB26	Strong	Altered Expression	[5]
F13A1	TTXI2RA	Strong	Biomarker	[6]
IDE	TT2EDHU	Strong	Altered Expression	[7]
MME	TT5TKPM	Strong	Biomarker	[1]
PDE3A	TT06AWU	Strong	Biomarker	[8]
PSEN1	TTZ3S8C	Strong	Genetic Variation	[9]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC30A3	DTKMECW	Strong	Altered Expression	[10]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AOC2	DE8DP90	Strong	Biomarker	[11]

This Disease Is Related to 19 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXI3	OTGQSH1Z	Limited	Genetic Variation	[12]
TSHZ1	OTYQ9ECW	Limited	Autosomal dominant	[13]
ABHD16A	OTDS9K1Z	Strong	Genetic Variation	[14]
BAG6	OT4Z0S2U	Strong	Genetic Variation	[14]
CMAS	OTFQJG3C	Strong	Biomarker	[15]
COL6A2	OTQC6PPO	Strong	Biomarker	[2]
DYM	OTQ670WI	Strong	Biomarker	[16]
ECRG4	OTHZYUXX	Strong	Genetic Variation	[17]
GRIN3A	OTQS9GYY	Strong	Genetic Variation	[18]
KCNJ13	OTG1CNND	Strong	Biomarker	[19]
NEBL	OT2WH1NC	Strong	Genetic Variation	[20]
PLCB4	OTPA0QHW	Strong	Genetic Variation	[21]
PRRC2A	OTBX6FM5	Strong	Biomarker	[14]
ROM1	OTE7H0YV	Strong	Biomarker	[22]
SRPX	OT5B9LXS	Strong	Biomarker	[23]
SUCLA2	OTMZD4PW	Strong	Biomarker	[24]
TIFAB	OTBX12V9	Strong	Genetic Variation	[25]
TOMM40	OTZDQ29F	Strong	Genetic Variation	[26]
TRAPPC12	OT6NMCK5	Strong	Genetic Variation	[17]

References

• [1] Beta-amyloid pathology in human brain microvessel extracts from the parietal cortex: relation with cerebral amyloid angiopathy and Alzheimer's disease.Acta Neuropathol. 2019 May;137(5):801-823. doi: 10.1007/s00401-019-01967-4. Epub 2019 Feb 7.
• [2] Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer's disease.Acta Neuropathol Commun. 2018 Jun 4;6(1):46. doi: 10.1186/s40478-018-0540-2.
• [3] Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi.J Med Genet. 1999 Aug;36(8):610-4.
• [4] Apolipoprotein E and clusterin inhibit the early phase of amyloid- aggregation in an in vitro model of cerebral amyloid angiopathy.Acta Neuropathol Commun. 2019 Jan 28;7(1):12. doi: 10.1186/s40478-019-0662-1.
• [5] Contact sport participation and chronic traumatic encephalopathy are associated with altered severity and distribution of cerebral amyloid angiopathy.Acta Neuropathol. 2019 Sep;138(3):401-413. doi: 10.1007/s00401-019-02031-x. Epub 2019 Jun 10.
• [6] Coagulation factor XIIIa cross-links amyloid into dimers and oligomers and to blood proteins.J Biol Chem. 2019 Jan 11;294(2):390-396. doi: 10.1074/jbc.RA118.005352. Epub 2018 Nov 8.
• [7] Insulin-degrading enzyme in brain microvessels: proteolysis of amyloid {beta} vasculotropic variants and reduced activity in cerebral amyloid angiopathy.J Biol Chem. 2004 Dec 31;279(53):56004-13. doi: 10.1074/jbc.M407283200. Epub 2004 Oct 15.
• [8] Effects of phosphodiesterase 3A modulation on murine cerebral microhemorrhages.J Neuroinflammation. 2017 Jun 5;14(1):114. doi: 10.1186/s12974-017-0885-7.
• [9] Neuropathology of Autosomal Dominant Alzheimer Disease in the National Alzheimer Coordinating Center Database.J Neuropathol Exp Neurol. 2016 Mar;75(3):284-90. doi: 10.1093/jnen/nlv028. Epub 2016 Feb 17.
• [10] Neuronal zinc exchange with the blood vessel wall promotes cerebral amyloid angiopathy in an animal model of Alzheimer's disease.J Neurosci. 2004 Mar 31;24(13):3453-9. doi: 10.1523/JNEUROSCI.0297-04.2004.
• [11] Cross-talk between A and endothelial SSAO/VAP-1 accelerates vascular damage and A aggregation related to CAA-AD.Neurobiol Aging. 2015 Feb;36(2):762-75. doi: 10.1016/j.neurobiolaging.2014.09.030. Epub 2014 Oct 13.
• [12] Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion.Am J Med Genet A. 2015 Mar;167A(3):537-44. doi: 10.1002/ajmg.a.36895. Epub 2015 Feb 5.
• [13] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [14] Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm.J Clin Lab Anal. 2010;24(4):262-8. doi: 10.1002/jcla.20409.
• [15] Subarachnoid extension of lobar hemorrhage on acute/subacute MRI is associated with cerebral amyloid angiopathy criteria.Acta Neurol Belg. 2020 Aug;120(4):863-866. doi: 10.1007/s13760-018-01060-9. Epub 2018 Dec 11.
• [16] Effects of anoxia and hypoxia on amyloid precursor protein processing in cerebral microvascular smooth muscle cells.J Neuropathol Exp Neurol. 2006 Jun;65(6):610-20. doi: 10.1097/00005072-200606000-00009.
• [17] Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease.Alzheimers Res Ther. 2018 Feb 20;10(1):22. doi: 10.1186/s13195-018-0349-z.
• [18] Association between GRIN3A gene polymorphism in Kawasaki disease and coronary artery aneurysms in Taiwanese children.PLoS One. 2013 Nov 22;8(11):e81384. doi: 10.1371/journal.pone.0081384. eCollection 2013.
• [19] Hemorrhage recurrence risk factors in cerebral amyloid angiopathy: Comparative analysis of the overall small vessel disease severity score versus individual neuroimaging markers.J Neurol Sci. 2017 Sep 15;380:64-67. doi: 10.1016/j.jns.2017.07.015. Epub 2017 Jul 9.
• [20] Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.PLoS One. 2016 May 12;11(5):e0154943. doi: 10.1371/journal.pone.0154943. eCollection 2016.
• [21] Genetic variants in PLCB4/PLCB1 as susceptibility loci for coronary artery aneurysm formation in Kawasaki disease in Han Chinese in Taiwan.Sci Rep. 2015 Oct 5;5:14762. doi: 10.1038/srep14762.
• [22] Core cerebrospinal fluid biomarker profile in cerebral amyloid angiopathy: A meta-analysis.Neurology. 2018 Feb 27;90(9):e754-e762. doi: 10.1212/WNL.0000000000005030. Epub 2018 Jan 31.
• [23] Sushi repeat-containing protein 1: a novel disease-associated molecule in cerebral amyloid angiopathy.Acta Neuropathol. 2017 Oct;134(4):605-617. doi: 10.1007/s00401-017-1720-z. Epub 2017 May 6.
• [24] Origins of Beta Amyloid Differ Between Vascular Amyloid Deposition and Parenchymal Amyloid Plaques in the Spinal Cord of a Mouse Model of Alzheimer's Disease.Mol Neurobiol. 2020 Jan;57(1):278-289. doi: 10.1007/s12035-019-01697-4. Epub 2019 Jul 19.
• [25] Identification of the TIFAB Gene as a Susceptibility Locus for Coronary Artery Aneurysm in Patients with Kawasaki Disease.Pediatr Cardiol. 2019 Mar;40(3):483-488. doi: 10.1007/s00246-018-1992-7. Epub 2018 Sep 28.
• [26] Genetics of cerebral amyloid angiopathy: systematic review and meta-analysis.J Neurol Neurosurg Psychiatry. 2013 Aug;84(8):901-8. doi: 10.1136/jnnp-2012-303898. Epub 2013 Mar 2.