Details of Disease

General Information of Disease (ID: DISS8U5Q)

Disease Name Amelogenesis imperfecta type 1G
Synonyms
amelogenesis imperfecta and nephrocalcinosis; amelogenesis imperfecta-nephrocalcinosis syndrome; generalised enamel hypoplasia and renal dysfunction; enamel renal syndrome; amelogenesis imperfecta, hypoplastic, with nephrocalcinosis; generalized enamel hypoplasia and renal dysfunction; amelogenesis imperfecta hypoplastic type, IG; absent enamel, nephrocalcinosis and apparently normal calcium metabolism; amelogenesis imperfecta nephrocalcinosis; amelogenesis imperfecta, type IG; amelogenesis imperfecta hypoplastic with nephrocalcinosis; amelogenesis imperfecta, type IG (enamel-renal syndrome); enamel-renal-gingival syndrome; FAM20A amelogenesis imperfecta; AIGFS; amelogenesis imperfecta-gingival hyperplasia syndrome; amelogenesis imperfecta and gingival fibromatosis syndrome; amelogenesis imperfecta caused by mutation in FAM20A; amelogenesis imperfecta type IG; enamel-renal syndrome; AI1G; ers
Definition
An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISGYR9E: Amelogenesis imperfecta
DISS8U5Q: Amelogenesis imperfecta type 1G
Disease Identifiers
MONDO ID
MONDO_0008771
MESH ID
C538241
UMLS CUI
C2931783
OMIM ID
204690
MedGen ID
419162
Orphanet ID
1031
SNOMED CT ID
109477002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA2D1 TTFK1JQ Strong Biomarker [1]
KCND3 TTPLQO0 Strong Genetic Variation [2]
SCN5A TTZOVE0 Strong Genetic Variation [3]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNB2 DTBZWL4 Strong Biomarker [1]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNE1 OTZNQUW9 moderate Genetic Variation [4]
DPP6 OTWW3H0K Strong Genetic Variation [5]
KCNJ8 OTZ8G8FE Strong Biomarker [6]
NMT1 OT42GQ3D Strong Altered Expression [7]
SCN1B OTGD78J3 Strong Genetic Variation [8]
FAM20A OT5Z5IW8 Definitive Autosomal recessive [9]
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⏷ Show the Full List of 6 DOT(s)

References

1 Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.Heart Rhythm. 2010 Dec;7(12):1872-82. doi: 10.1016/j.hrthm.2010.08.026. Epub 2010 Oct 14.
2 A de novo gain-of-function KCND3 mutation in early repolarization syndrome.Heart Rhythm. 2019 Nov;16(11):1698-1706. doi: 10.1016/j.hrthm.2019.05.033. Epub 2019 Jun 4.
3 A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome.Int J Mol Med. 2016 Mar;37(3):727-33. doi: 10.3892/ijmm.2016.2468. Epub 2016 Jan 26.
4 Mutation in KCNE1 associated to early repolarization syndrome by modulation of slowly activating delayed rectifier K(+) current.Exp Cell Res. 2018 Feb 15;363(2):315-320. doi: 10.1016/j.yexcr.2018.01.030. Epub 2018 Feb 1.
5 A novel DPP6 variant in Chinese families causes early repolarization syndrome.Exp Cell Res. 2019 Nov 1;384(1):111561. doi: 10.1016/j.yexcr.2019.111561. Epub 2019 Aug 30.
6 Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8.Heart Rhythm. 2012 Apr;9(4):548-55. doi: 10.1016/j.hrthm.2011.10.035. Epub 2011 Nov 3.
7 Tanshinone II A Affects Diabetic Peripheral Neuropathic Pain via Spinal Dorsal Horn Neuronal Circuitry by Modulating Endoplasmic Reticulum Stress Pathways.Exp Clin Endocrinol Diabetes. 2020 Jan;128(1):59-65. doi: 10.1055/a-0919-4614. Epub 2019 Jul 11.
8 SCN1B mutations that affect their association with Kv4.3 underlie early repolarization syndrome.J Cell Mol Med. 2018 Nov;22(11):5639-5647. doi: 10.1111/jcmm.13839. Epub 2018 Aug 30.
9 Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet. 2011 May 13;88(5):616-20. doi: 10.1016/j.ajhg.2011.04.005. Epub 2011 May 5.