PedAM

Pediatric Disease Annotations & Medicines


	amelogenesis imperfecta

Disease ID	393
Disease	amelogenesis imperfecta
Definition	A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.
Synonym	ai - amelogenesis imperfecta amelogenesis imperfecta (disorder) amelogenesis imperfecta [disease/finding] congenital enamel hypoplasia
Orphanet	ORPHANET:88661
DOID	DOID:2187
UMLS	C0002452
MeSH	D000567
SNOMED-CT	SNOMEDCT_US_2016_09_01:78494001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:6) C0035334 \| cone-rod dystrophy \| 3 C0031099 \| periodontitis \| 1 C0011351 \| hypoplastic enamel \| 1 C0031106 \| aggressive periodontitis \| 1 C0014527 \| epidermolysis bullosa \| 1 C0018552 \| hamartomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:20) FAM20A \| 54757 \| UniProtKB-KW CNNM4 \| 26504 \| UniProtKB-KW SLC24A4 \| 123041 \| UniProtKB-KW;GHR AMELX \| 265 \| UniProtKB-KW;GHR LTBP3 \| 4054 \| CTD_human;UniProtKB-KW C4orf26 \| 152816 \| UniProtKB-KW;GHR FAM83H \| 286077 \| CTD_human;UniProtKB-KW;GHR PEX6 \| 5190 \| UniProtKB-KW KLK4 \| 9622 \| UniProtKB-KW;GHR LAMB3 \| 3914 \| UniProtKB-KW;GHR ACPT \| 93650 \| UniProtKB-KW AMBN \| 258 \| UniProtKB-KW PEX1 \| 5189 \| UniProtKB-KW ITGB6 \| 3694 \| UniProtKB-KW;GHR ENAM \| 10117 \| CTD_human;UniProtKB-KW;GHR GPR68 \| 8111 \| UniProtKB-KW WDR72 \| 256764 \| UniProtKB-KW;GHR MMP20 \| 9313 \| UniProtKB-KW;GHR DLX3 \| 1747 \| UniProtKB-KW ROGDI \| 79641 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:122) 3861 \| KRT14 \| DISEASES 266 \| AMELY \| DISEASES 5816 \| PVALB \| DISEASES 191 \| AHCY \| DISEASES 8797 \| TNFRSF10A \| DISEASES 11101 \| ATE1 \| DISEASES 1277 \| COL1A1 \| DISEASES 952 \| CD38 \| DISEASES 135152 \| B3GAT2 \| DISEASES 335 \| APOA1 \| DISEASES 4488 \| MSX2 \| DISEASES 1748 \| DLX4 \| DISEASES 7291 \| TWIST1 \| DISEASES 3759 \| KCNJ2 \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 23335 \| WDR7 \| DISEASES 23225 \| NUP210 \| DISEASES 9313 \| MMP20 \| DISEASES 1559 \| CYP2C9 \| DISEASES 9917 \| FAM20B \| DISEASES 1716 \| DGUOK \| DISEASES 3918 \| LAMC2 \| DISEASES 3938 \| LCT \| DISEASES 10686 \| CLDN16 \| DISEASES 3371 \| TNC \| DISEASES 1583 \| CYP11A1 \| DISEASES 1213 \| CLTC \| DISEASES 432 \| ASGR1 \| DISEASES 93650 \| ACPT \| DISEASES 1261 \| CNGA3 \| DISEASES 23082 \| PPRC1 \| DISEASES 26011 \| TENM4 \| DISEASES 1834 \| DSPP \| DISEASES 3694 \| ITGB6 \| DISEASES 326 \| AIRE \| DISEASES 10841 \| FTCD \| DISEASES 149461 \| CLDN19 \| DISEASES 1278 \| COL1A2 \| DISEASES 79841 \| AGBL2 \| DISEASES 1548 \| CYP2A6 \| DISEASES 4054 \| LTBP3 \| DISEASES 8313 \| AXIN2 \| DISEASES 54578 \| UGT1A6 \| DISEASES 5190 \| PEX6 \| DISEASES 7364 \| UGT2B7 \| DISEASES 10855 \| HPSE \| DISEASES 1657 \| DMXL1 \| DISEASES 3265 \| HRAS \| DISEASES 392 \| ARHGAP1 \| DISEASES 258 \| AMBN \| DISEASES 23621 \| BACE1 \| DISEASES 4018 \| LPA \| DISEASES 56975 \| FAM20C \| DISEASES 79641 \| ROGDI \| DISEASES 9622 \| KLK4 \| DISEASES 64327 \| LMBR1 \| DISEASES 1435 \| CSF1 \| DISEASES 9276 \| COPB2 \| DISEASES 3916 \| LAMP1 \| DISEASES 64386 \| MMP25 \| DISEASES 395 \| ARHGAP6 \| DISEASES 80320 \| SP6 \| DISEASES 1308 \| COL17A1 \| DISEASES 401138 \| AMTN \| DISEASES 1544 \| CYP1A2 \| DISEASES 3804 \| KIR2DL3 \| DISEASES 3914 \| LAMB3 \| DISEASES 26507 \| CNNM1 \| DISEASES 5116 \| PCNT \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 256764 \| WDR72 \| DISEASES 1565 \| CYP2D6 \| DISEASES 56955 \| MEPE \| DISEASES 4512 \| MT-CO1 \| DISEASES 4519 \| MT-CYB \| DISEASES 4513 \| MT-CO2 \| DISEASES 4536 \| MT-ND2 \| DISEASES 5083 \| PAX9 \| DISEASES 58 \| ACTA1 \| DISEASES 5867 \| RAB4A \| DISEASES 4817 \| NIT1 \| DISEASES 7390 \| UROS \| DISEASES 7286 \| TUFT1 \| DISEASES 54805 \| CNNM2 \| DISEASES 57818 \| G6PC2 \| DISEASES 3376 \| IARS \| DISEASES 1184 \| CLCN5 \| DISEASES 4795 \| NFKBIL1 \| DISEASES 26504 \| CNNM4 \| DISEASES 8718 \| TNFRSF25 \| DISEASES 3601 \| IL15RA \| DISEASES 265 \| AMELX \| DISEASES 1183 \| CLCN4 \| DISEASES 51091 \| SEPSECS \| DISEASES 4487 \| MSX1 \| DISEASES 1186 \| CLCN7 \| DISEASES 5268 \| SERPINB5 \| DISEASES 286077 \| FAM83H \| DISEASES 3811 \| KIR3DL1 \| DISEASES 3758 \| KCNJ1 \| DISEASES 10117 \| ENAM \| DISEASES 54959 \| ODAM \| DISEASES 7009 \| TMBIM6 \| DISEASES 1747 \| DLX3 \| DISEASES 8671 \| SLC4A4 \| DISEASES 64167 \| ERAP2 \| DISEASES 79718 \| TBL1XR1 \| DISEASES 284111 \| SLC13A5 \| DISEASES 152816 \| C4orf26 \| DISEASES 121256 \| TMEM132D \| DISEASES 1589 \| CYP21A2 \| DISEASES 645073 \| GAGE12G \| DISEASES 374308 \| PTCHD3 \| DISEASES 5447 \| POR \| DISEASES 51428 \| DDX41 \| DISEASES 100423062 \| IGLL5 \| DISEASES 123041 \| SLC24A4 \| DISEASES 8111 \| GPR68 \| DISEASES 4065 \| LY75 \| DISEASES 162514 \| TRPV3 \| DISEASES 54757 \| FAM20A \| DISEASES 677833 \| SNORA54 \| DISEASES
Locus	(Waiting for update.)

Disease ID	393
Disease	amelogenesis imperfecta
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0010807 \| Open bite between upper and lower teeth \| 4 HP:0000679 \| Taurodont \| 3 HP:0200095 \| Anterior open bite \| 2 HP:0001571 \| Impacted teeth \| 2 HP:0000164 \| Abnormality of the teeth \| 1 HP:0012531 \| Pain \| 1 HP:0001289 \| Confusion \| 1 HP:0006283 \| Failure of eruption of multiple teeth \| 1 HP:0000212 \| Gingival overgrowth \| 1 HP:0000704 \| Pyorrhea \| 1

Disease ID	393
Disease	amelogenesis imperfecta
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C0035334 \| cone-rod dystrophy C0011430 \| dentin dysplasia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0035334 \| cone-rod dystrophy \| 3 C0011430 \| dentin dysplasia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs387906406	18362318	1747	DLX3	umls:C0002452	BeFree	Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT).	0.001085767	2008	DLX3	17	49991819	AG	-
rs387906406	18203197	1747	DLX3	umls:C0002452	BeFree	Previously, the DLX3 c.561_562delCT mutation was associated with autosomal dominant amelogenesis imperfecta with taurodontism.	0.001085767	2008	DLX3	17	49991819	AG	-

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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