Details of Disease

General Information of Disease (ID: DISVJGPS)

• Disease Name: Ear malformation
• Synonyms: cup Ear; ear malformation
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISVJGPS: Ear malformation
• Disease Identifiers:
  MONDO ID: MONDO_0007500
  UMLS CUI: C0266589
  OMIM ID: 128600
  MedGen ID: 75618
  HPO ID: HP:0000598
  SNOMED CT ID: 275259005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNQ1	TT846HF	moderate	Genetic Variation	[1]
KCNJ10	TTG140O	Strong	Biomarker	[2]
SLC26A4	TT7X02I	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PTGDS	DER3H9C	Disputed	Genetic Variation	[4]

This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABR	OTZQK8JF	moderate	Biomarker	[5]
DACT1	OT19Z704	moderate	Biomarker	[6]
HMX1	OT65ZGE0	moderate	Genetic Variation	[7]
HMX2	OTBRXY6D	moderate	Genetic Variation	[8]
HMX3	OTOVMNAN	moderate	Biomarker	[8]
HOXA2	OT6G6ZIK	moderate	Genetic Variation	[9]
HOXB1	OTGC0EKI	moderate	Genetic Variation	[10]
MYO7A	OTBZSPEL	moderate	Genetic Variation	[11]
SALL1	OTYYZGLH	moderate	Genetic Variation	[12]
CHD7	OTHNIZWZ	Strong	Genetic Variation	[13]
EYA1	OTHU807A	Strong	Biomarker	[14]
GREB1L	OTZTY5KQ	Strong	Genetic Variation	[15]
MPZL2	OTKFNDUI	Strong	Biomarker	[16]
POU3F4	OTKF5AF7	Strong	Genetic Variation	[17]
SIX1	OT70YYWM	Strong	Genetic Variation	[18]

References

• [1] Inner ear abnormalities in a Kcnq1 (Kvlqt1) knockout mouse: a model of Jervell and Lange-Nielsen syndrome.Otol Neurotol. 2005 May;26(3):415-24. doi: 10.1097/01.mao.0000169764.00798.84.
• [2] Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.Am J Med Genet A. 2013 Sep;161A(9):2226-33. doi: 10.1002/ajmg.a.36068. Epub 2013 Aug 5.
• [3] Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report.J Dermatol. 2020 Jan;47(1):78-81. doi: 10.1111/1346-8138.15130. Epub 2019 Nov 6.
• [4] Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-Pendred syndrome?.J Clin Res Pediatr Endocrinol. 2010;2(2):81-4. doi: 10.4274/jcrpe.v2i2.81. Epub 2010 May 6.
• [5] Electrically evoked ABR during cochlear implantation and postoperative development of speech and hearing abilities in infants with common cavity deformity as a type of inner ear malformation.Acta Otolaryngol. 2020 Jan;140(1):14-21. doi: 10.1080/00016489.2019.1692147. Epub 2019 Nov 25.
• [6] Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. Hum Mutat. 2017 Apr;38(4):373-377. doi: 10.1002/humu.23171. Epub 2017 Feb 2.
• [7] Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.Ophthalmic Genet. 2018 Apr;39(2):215-220. doi: 10.1080/13816810.2017.1401089. Epub 2017 Nov 15.
• [8] Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.Am J Med Genet A. 2009 Feb 15;149A(4):669-80. doi: 10.1002/ajmg.a.32705.
• [9] Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.Am J Med Genet A. 2009 May;149A(5):837-43. doi: 10.1002/ajmg.a.32747.
• [10] Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.Am J Med Genet A. 2016 Jul;170(7):1813-9. doi: 10.1002/ajmg.a.37682. Epub 2016 May 4.
• [11] Myosin VIIA defects, which underlie the Usher 1B syndrome in humans, lead to deafness in Drosophila.Curr Biol. 2005 May 10;15(9):862-8. doi: 10.1016/j.cub.2005.03.050.
• [12] Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome.Am J Med Genet A. 2007 May 15;143A(10):1087-90. doi: 10.1002/ajmg.a.31700.
• [13] High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism.Sci Rep. 2019 Feb 7;9(1):1597. doi: 10.1038/s41598-018-38178-y.
• [14] Identification of a novel nonsynonymous mutation of EYA1 disrupting splice site in a Korean patient with BOR syndrome.Mol Biol Rep. 2014 Jul;41(7):4321-7. doi: 10.1007/s11033-014-3303-6. Epub 2014 Mar 4.
• [15] De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafness. Hum Genet. 2018 Jul;137(6-7):459-470. doi: 10.1007/s00439-018-1898-8. Epub 2018 Jun 28.
• [16] Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.J Transl Med. 2011 Sep 30;9:167. doi: 10.1186/1479-5876-9-167.
• [17] A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).Int J Pediatr Otorhinolaryngol. 2018 Jan;104:94-97. doi: 10.1016/j.ijporl.2017.11.001. Epub 2017 Nov 6.
• [18] A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss.Mol Genet Genomic Med. 2019 Dec;7(12):e995. doi: 10.1002/mgg3.995. Epub 2019 Oct 8.