Details of Disease | DrugMAP

General Information of Disease (ID: DIS2G3FF)

Disease Name	Autosomal dominant prognathism
Synonyms	Habsburg jaw; prognathism mandibular; 'Hapsburg jaw'; 'Habsburg jaw'; prognathism, mandibular; Hapsburg jaw
Definition	Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).
Disease Hierarchy	DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS2G3FF: Autosomal dominant prognathism
Disease Identifiers	MONDO ID MONDO_0008312 MESH ID D008313 UMLS CUI C0399526 OMIM ID 176700 MedGen ID 98316 HPO ID HP:0000303 Orphanet ID 2964 SNOMED CT ID 109504005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS1	TTS2TEI	Limited	Autosomal dominant	[1]
ADGRL3	TTQST3U	moderate	Genetic Variation	[2]
GHR	TTHJWYD	Strong	Genetic Variation	[3]
NSD1	TTTSJ3H	Strong	Biomarker	[4]
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This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS1	OTTLJH8W	Limited	Autosomal dominant	[1]
ARHGAP21	OT6XY8Y9	moderate	Biomarker	[5]
BEST3	OTMY8G20	moderate	Biomarker	[6]
FGF12	OTBM9QIO	moderate	Genetic Variation	[7]
FGF20	OTJIQ8YZ	moderate	Genetic Variation	[7]
IHH	OT1DWGXC	moderate	Altered Expression	[8]
MATN1	OTBRTCTQ	moderate	Genetic Variation	[9]
NBPF9	OTFET173	moderate	Genetic Variation	[10]
POLDIP3	OTTB5SV7	moderate	Genetic Variation	[11]
ADAMTSL1	OTBNYF3F	Strong	Genetic Variation	[12]
MYH3	OTOCCGEB	Strong	Altered Expression	[13]
MYH8	OT9F350W	Strong	Altered Expression	[13]
PHOX2B	OT3SFR2O	Strong	Genetic Variation	[14]
SNX3	OTXL5W8F	Strong	Genetic Variation	[15]
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⏷ Show the Full List of 14 DOT(s)

References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Long-term stability of surgical-orthodontic treatment for skeletal Class III malocclusion with mild asymmetry.J Oral Sci. 2017;59(1):161-164. doi: 10.2334/josnusd.16-0004.
3	Genetic polymorphisms underlying the skeletal Class III phenotype.Am J Orthod Dentofacial Orthop. 2017 Apr;151(4):700-707. doi: 10.1016/j.ajodo.2016.09.013.
4	Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.Eur J Hum Genet. 2015 May;23(5):610-5. doi: 10.1038/ejhg.2014.162. Epub 2014 Aug 13.
5	Genetic association of ARHGAP21 gene variant with mandibular prognathism.J Dent Res. 2015 Apr;94(4):569-76. doi: 10.1177/0022034515572190. Epub 2015 Feb 17.
6	Whole-exome sequencing in a Japanese pedigree implicates a rare non-synonymous single-nucleotide variant in BEST3 as a candidate for mandibular prognathism.Bone. 2019 May;122:193-198. doi: 10.1016/j.bone.2019.03.004. Epub 2019 Mar 5.
7	Targeted sequencing in FGF/FGFR genes and association analysis of variants for mandibular prognathism.Medicine (Baltimore). 2017 Jun;96(25):e7240. doi: 10.1097/MD.0000000000007240.
8	Genes, genetics, and Class III malocclusion.Orthod Craniofac Res. 2010 May;13(2):69-74. doi: 10.1111/j.1601-6343.2010.01485.x.
9	Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans.J Dent Res. 2010 Nov;89(11):1203-7. doi: 10.1177/0022034510375962. Epub 2010 Aug 25.
10	Three novel genes tied to mandibular prognathism in eastern Mediterranean families.Am J Orthod Dentofacial Orthop. 2019 Jul;156(1):104-112.e3. doi: 10.1016/j.ajodo.2018.08.020.
11	Skeletal and dentoalveolar effects of hybrid rapid palatal expansion and facemask treatment in growing skeletal Class III patients.Am J Orthod Dentofacial Orthop. 2018 Feb;153(2):262-268. doi: 10.1016/j.ajodo.2017.06.022.
12	ADAMTSL1 and mandibular prognathism.Clin Genet. 2019 Apr;95(4):507-515. doi: 10.1111/cge.13519.
13	Developmental myosin heavy chain mRNA in masseter after orthognathic surgery: a preliminary study.J Craniomaxillofac Surg. 2011 Sep;39(6):401-6. doi: 10.1016/j.jcms.2010.06.001. Epub 2010 Jul 29.
14	Obstructive sleep apnea syndrome (OSAS) in children with Class III malocclusion: involvement of the PHOX2B gene.Sleep Breath. 2013 Dec;17(4):1275-80. doi: 10.1007/s11325-013-0833-4. Epub 2013 Mar 28.
15	Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.BMC Med Genet. 2007 Jul 26;8:48. doi: 10.1186/1471-2350-8-48.