Details of Disease

General Information of Disease (ID: DISN6ZMR)

• Disease Name: Dental enamel hypoplasia
• Synonyms: enamel hypoplasia
• Definition: Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.
• Disease Hierarchy:
  DISYQYMA: Tooth hard tissue disease
  DISN6ZMR: Dental enamel hypoplasia
• Disease Identifiers:
  MONDO ID: MONDO_0004038
  MESH ID: D003744
  UMLS CUI: C0011351
  MedGen ID: 3730
  HPO ID: HP:0006297
  SNOMED CT ID: 26597004

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
LAMB3	TT2WOUQ	Limited	Genetic Variation	[1]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AIRE	OTA7G1Y1	Limited	Biomarker	[2]
COL17A1	OTID5AH2	Limited	Genetic Variation	[3]
ENAM	OTK8PU0T	Limited	Genetic Variation	[4]
EVC2	OTY0M5SD	Limited	Genetic Variation	[5]
HMGN2	OTN20MEF	Limited	Altered Expression	[6]
PEX6	OTFAK5EF	Limited	Biomarker	[7]
PTDSS1	OTXLIBD7	Limited	Biomarker	[8]
PEX26	OT5AM0BM	moderate	Biomarker	[9]
RELT	OT419II2	Strong	Genetic Variation	[10]

References

• [1] A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region.Eur J Oral Sci. 2016 Aug;124(4):403-5. doi: 10.1111/eos.12280. Epub 2016 May 24.
• [2] A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1.J Clin Endocrinol Metab. 2016 Aug;101(8):2975-83. doi: 10.1210/jc.2016-1821. Epub 2016 Jun 2.
• [3] Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.Int J Mol Med. 2006 Aug;18(2):333-7.
• [4] Enamelin Directs Crystallite Organization at the Enamel-Dentine Junction.J Dent Res. 2016 May;95(5):580-7. doi: 10.1177/0022034516632745. Epub 2016 Feb 24.
• [5] Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.J Dent Res. 2017 Apr;96(4):421-429. doi: 10.1177/0022034516683674. Epub 2017 Jan 12.
• [6] A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome.Hum Mol Genet. 2014 Jan 1;23(1):194-208. doi: 10.1093/hmg/ddt411. Epub 2013 Aug 23.
• [7] PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.Hum Mutat. 2016 Feb;37(2):170-4. doi: 10.1002/humu.22934. Epub 2015 Dec 14.
• [8] Lenz-Majewski syndrome: Report of a case with novel mutation inPTDSS1 gene.Eur J Med Genet. 2015 Aug;58(8):392-9. doi: 10.1016/j.ejmg.2015.06.002. Epub 2015 Jun 24.
• [9] Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Mol Genet Genomic Med. 2017 Jul 6;5(5):531-552. doi: 10.1002/mgg3.312. eCollection 2017 Sep.
• [10] Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet. 2019 Mar;95(3):375-383. doi: 10.1111/cge.13487. Epub 2018 Dec 21.