ENAM

Summary

ENAM (enamelin, HGNC:3344) is a protein-coding gene on chromosome 4q13.3, encoding Enamelin (Q9NRM1). Involved in the mineralization and structural organization of enamel.

Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.

Source: NCBI Gene 10117 — RefSeq curated summary.

At a glance

• Gene–disease (curated): amelogenesis imperfecta type 1B (Definitive, GenCC) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 305 total — 8 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 7
• MANE Select transcript: NM_031889

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3344
Approved symbol	ENAM
Name	enamelin
Location	4q13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000132464
Ensembl biotype	protein_coding
OMIM	606585
Entrez	10117

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000396073, ENST00000472597

RefSeq mRNA: 1 — MANE Select: NM_031889 NM_031889

CCDS: CCDS3544

Canonical transcript exons

ENST00000396073 — 9 exons

Exon	Start	End
ENSE00000850995	70642015	70646824
ENSE00000904382	70631670	70631738
ENSE00000904383	70631849	70631893
ENSE00000904384	70632651	70632692
ENSE00000904385	70634308	70634568
ENSE00000904386	70635832	70635894
ENSE00000904387	70637790	70637843
ENSE00001523768	70629441	70629554
ENSE00001523770	70628744	70628964

Expression profiles

Bgee: expression breadth broad, 83 present calls, max score 89.87.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1428 / max 16.4209, expressed in 56 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
47988	0.1428	56

Top tissues by expression

209 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	89.87	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.06	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.45	gold quality
kidney epithelium	UBERON:0004819	83.73	silver quality
islet of Langerhans	UBERON:0000006	81.84	gold quality
vastus lateralis	UBERON:0001379	76.01	silver quality
quadriceps femoris	UBERON:0001377	75.34	silver quality
epithelial cell of pancreas	CL:0000083	74.13	gold quality
biceps brachii	UBERON:0001507	72.94	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	72.51	gold quality
skeletal muscle tissue	UBERON:0001134	72.30	gold quality
muscle tissue	UBERON:0002385	71.99	gold quality
adult mammalian kidney	UBERON:0000082	71.69	gold quality
deltoid	UBERON:0001476	69.72	silver quality
corpus epididymis	UBERON:0004359	69.07	gold quality
kidney	UBERON:0002113	69.03	gold quality
buccal mucosa cell	CL:0002336	68.67	gold quality
pancreas	UBERON:0001264	68.10	gold quality
colonic epithelium	UBERON:0000397	67.47	silver quality
gall bladder	UBERON:0002110	67.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	66.77	gold quality
superficial temporal artery	UBERON:0001614	66.53	gold quality
heart right ventricle	UBERON:0002080	66.20	gold quality
gingival epithelium	UBERON:0001949	65.97	gold quality
muscle of leg	UBERON:0001383	65.75	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	65.70	silver quality
gastrocnemius	UBERON:0001388	65.47	gold quality
heart left ventricle	UBERON:0002084	65.45	gold quality
cardiac ventricle	UBERON:0002082	65.44	gold quality
cortex of kidney	UBERON:0001225	64.94	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.13

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, LEF1, SP3

miRNA regulators (miRDB)

115 targeting ENAM, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-548P	99.98	72.25	3784
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-548AT-5P	99.96	70.83	2666

Literature-anchored findings (GeneRIF, showing 32)

• A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (PMID:11978766)
• heterogeneous mutations are responsible for an autosomal-dominant hypoplastic form of amelogenesis imperfecta (PMID:12407086)
• critical for proper dental enamel formation (PMID:14656895)
• Demonstration of a ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel pitting. (PMID:14684688)
• Ultrastructural enamel changes in the patient with the autosomal dominant ENAM g.13185-13186insAG mutation, were less pronounced compared to ultrastructural changes in patients with the autosomal dominant ENAM mutation 8344delG. (PMID:17125728)
• A mutation was found in exon 9 where guanine was substituted by thymine in one of the alleles in position 817, generating a change of arginine to methionine in codon 179 of the protein. (PMID:17316551)
• This work shows that bursts of adaptive enamelin evolution occur on primate lineages with inferred dietary changes. (PMID:18245370)
• a single base difference g359A –> G located in exon 1 was identified and ruled out the possible mutation in exon 2, exon 3, exon 4, exon 5, exon 6, exon 7, exon 8, exon 9, exon 10, g2382, g6395 and g8344 of ENAM gene in the AI patient. (PMID:18466877)
• A total of 463 individuals from 54 families were evaluated and mutations in the AMEL, ENAM and KLK4 genes were identified. (PMID:18714142)
• Analysis revealed 2 ENAM mutations (autosomal-dominant g.14917delT and autosomal-recessive g.13185-13186insAG mutations). Single T deletion in exon 10 is a novel deletion mutation(g.14917delT, c.2991delT)predicted to result in premature termination codon. (PMID:19329462)
• The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation (PMID:19923784)
• hypocalcified amelogenesis imperfecta, Witkop type III, was unrelated to previously described mutations in the ENAM or MMP-20 genes (PMID:21504268)
• Mutations in FAM83H and ENAM and related phenotypes were observed in Chinese families with amelogenesis imperfecta. (PMID:22414746)
• Associations between TFIP11 (p=0.02), ENAM (p=0.00001), and AMELX (p=0.01) could be seen with caries independent of having MIH or genomic DNA copies of Streptococcus mutans detected by real time PCR in the Brazilian sample. (PMID:23790503)
• 2 exonic SNPs, both changing an amino acid in protein region encoded by exon 10 (p.I648T and p.R763Q), increased caries susceptibility 2.66-fold. findings support ENAM as gene candidate for caries susceptibility. (PMID:24487377)
• Whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the ENAM gene (c.454G>T p.Glu152* in family 1, c.358C>T p.Gln120* in family 2) in the probands. Affected individuals were heterozygous for the mutation in each family. (PMID:25143514)
• findings provide useful information for the implication of ENAM gene polymorphism in autosomal-dominant/-recessive amelogenesis imperfecta. (PMID:25427323)
• Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. (PMID:25769099)
• Overrepresentation of the G allele of the enamelin marker was seen in the erosion group compared to the unaffected group. (PMID:25791822)
• The study revealed the strong association between rs12640848 marker of ENAM gene and caries susceptibility in primary teeth in children from Poland. (PMID:26910531)
• study investigated the phenotypic effect of SNP C14625T (rs7671281) on the thickness of human dental enamel, exploring the effects of positive selection on a dental gene (PMID:27357321)
• The ENAM and TNF-alpha genes were likely associated with caries occurrence in Chinese children. The ENAM rs3796703 CT and TNF-alpha rs1800629 AG genotypes might be involved in caries susceptibility and protection, respectively. (PMID:28395167)
• Among the variants shared with modern humans, two are ancestral (common with apes) and one is the derived enamelin major variant, T648I (rs7671281), associated with a thinner enamel and specific to the Homo lineage. (PMID:28902892)
• Lack of association between the ENAM polymorphism (rs12640848) and dental caries in Czech children was detected. (PMID:29185146)
• An ENAM nonsense mutation identified in a family with hypoplastic amelogenesis imperfecta resulted in a highly variable clinical phenotype in individuals with a heterozygous mutant allele. (PMID:29554435)
• Two novel ENAM frameshift mutations were identified. A single-nucleotide duplication replaced amino acids 133-1142 with a 12 amino acid sequence, and a single-nucleotide deletion replaced amino acids 921-1142 with 31 amino acids (ESSPQQASYQAKETAQRRGKAKTLLEMMCPR*). (PMID:31478359)
• ENAM Gene Variation in Students Exposed to Different Fluoride Concentrations. (PMID:32178265)
• ENAM gene associated with T classification and inhibits proliferation in renal clear cell carcinoma. (PMID:33539322)
• A novel ENAM mutation causes hypoplastic amelogenesis imperfecta. (PMID:33864320)
• Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta. (PMID:37985977)
• Genetic variations in exon 10 of ENAM and their association with early childhood caries. (PMID:38642606)
• ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta. (PMID:38716742)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Enam	ENSMUSG00000029286
rattus_norvegicus	Enam	ENSRNOG00000003672

Protein

Protein identifiers

Enamelin — Q9NRM1 (reviewed: Q9NRM1)

All UniProt accessions (2): Q9NRM1, A0A3B3ITB9

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Tissue specificity. Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.

Post-translational modifications. Phosphorylated by FAM20C in vitro.

Disease relevance. Amelogenesis imperfecta 1B (AI1B) [MIM:104500] An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI). The disease is caused by variants affecting the gene represented in this entry. Amelogenesis imperfecta 1C (AI1C) [MIM:204650] An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_114095* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015673	Enamelin	Family

Pfam: PF15362

UniProt features (45 total): compositionally biased region 15, glycosylation site 10, region of interest 6, sequence variant 6, sequence conflict 3, modified residue 2, signal peptide 1, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NRM1-F1	36.63	0.00

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 191, 216

Glycosylation sites (10): 114, 126, 245, 252, 265, 296, 467, 534, 934, 1040

Mutagenesis-validated functional residues (1):

Position	Phenotype
191	decreased phosphorylation by fam20c.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-8957275	Post-translational protein phosphorylation

MSigDB gene sets: 110 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_TOOTH_MINERALIZATION, chr4q13, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_ENAMEL_MINERALIZATION, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, WTGAAAT_UNKNOWN, GOBP_AMELOGENESIS, GOBP_COLUMNAR_CUBOIDAL_EPITHELIAL_CELL_DIFFERENTIATION, POU3F2_02, GOBP_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, GOBP_ODONTOGENESIS, GOCC_ENDOPLASMIC_RETICULUM_LUMEN, YATGNWAAT_OCT_C

GO Biological Process (4): biomineral tissue development (GO:0031214), ameloblast differentiation (GO:0036305), positive regulation of enamel mineralization (GO:0070175), amelogenesis (GO:0097186)

GO Molecular Function (2): structural constituent of tooth enamel (GO:0030345), protein binding (GO:0005515)

GO Cellular Component (3): endoplasmic reticulum lumen (GO:0005788), extracellular matrix (GO:0031012), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of proteins	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
tissue development	1
animal organ development	1
columnar/cuboidal epithelial cell differentiation	1
enamel mineralization	1
positive regulation of tooth mineralization	1
regulation of enamel mineralization	1
odontogenesis of dentin-containing tooth	1
anatomical structure formation involved in morphogenesis	1
extracellular matrix structural constituent conferring compression resistance	1
binding	1
endoplasmic reticulum	1
intracellular organelle lumen	1
external encapsulating structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

990 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ENAM	AMBN	Q9NP70	999
ENAM	AMTN	Q6UX39	993
ENAM	AMELX	Q99217	985
ENAM	TUFT1	Q9NNX1	981
ENAM	DSPP	Q9NZW4	899
ENAM	MMP20	O60882	888
ENAM	ODAM	A1E959	855
ENAM	KLK4	Q9Y5K2	836
ENAM	SACK1H	Q6ZRV2	811
ENAM	AMELY	Q99218	798
ENAM	WDR72	Q3MJ13	788
ENAM	ODAPH	Q17RF5	773
ENAM	ACP4	Q9BZG2	717
ENAM	MMP25	Q9NPA2	717
ENAM	DMP1	Q13316	710

IntAct

5 interactions, top by confidence:

A	B	Type	Score
FAM20C	ENAM	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ENAM	FAM20C	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
ENAM	NCL	psi-mi:“MI:0915”(physical association)	0.400
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): ENAM (Proximity Label-MS), ENAM (Affinity Capture-MS), ENAM (Affinity Capture-MS), ENAM (Cross-Linking-MS (XL-MS)), ENAM (Proximity Label-MS), ENAM (Affinity Capture-RNA)

ESM2 similar proteins: A0A0J9YXV3, A0A172M4N0, A2VE23, A5PL33, C7EMF5, E7EW31, F1NSM7, I3L273, O15027, O48582, O55189, O55196, O97939, P0C671, P0DV77, P14138, Q14D33, Q1XI13, Q28989, Q3B7M4, Q4R729, Q5R7U0, Q5SWP3, Q62840, Q63003, Q6E0U4, Q6H236, Q6NUN9, Q6UXA7, Q7Z2K8, Q86UU5, Q8BM15, Q8K4E0, Q8K4L6, Q8N1P7, Q8N3D4, Q96D09, Q96JG9, Q9BGL9, Q9D7G9

Diamond homologs: O55196, O97939, Q9NRM1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

305 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	3
Uncertain significance	231
Likely benign	22
Benign	25

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
1012267	NM_031889.3(ENAM):c.-61+1G>A	Pathogenic
1192504	NM_031889.3(ENAM):c.588+1del	Pathogenic
2445233	NM_031889.3(ENAM):c.664C>T (p.Gln222Ter)	Pathogenic
4236	NM_031889.3(ENAM):c.534+1G>A	Pathogenic
4237	NM_031889.3(ENAM):c.157A>T (p.Lys53Ter)	Pathogenic
4813874	NM_031889.3(ENAM):c.1083G>A (p.Trp361Ter)	Pathogenic
488662	NM_031889.3(ENAM):c.1842C>G (p.Tyr614Ter)	Pathogenic
517662	NM_031889.3(ENAM):c.123+2T>G	Pathogenic
2440040	NM_031889.3(ENAM):c.372_382del (p.Lys124fs)	Likely pathogenic
2628824	NM_031889.3(ENAM):c.107del (p.Asn36fs)	Likely pathogenic
2690595	NM_031889.3(ENAM):c.935_944del (p.Ser312fs)	Likely pathogenic

SpliceAI

989 predictions. Top by Δscore:

Variant	Effect	Δscore
4:70631735:GCCA:G	donor_gain	1.0000
4:70631739:G:GG	donor_gain	1.0000
4:70632645:TTGCA:T	acceptor_loss	1.0000
4:70632646:TGCA:T	acceptor_loss	1.0000
4:70632647:GCA:G	acceptor_loss	1.0000
4:70632648:CA:C	acceptor_loss	1.0000
4:70632649:A:AG	acceptor_gain	1.0000
4:70632649:AGAT:A	acceptor_gain	1.0000
4:70632650:G:GG	acceptor_gain	1.0000
4:70632650:GAT:G	acceptor_gain	1.0000
4:70632650:GATG:G	acceptor_gain	1.0000
4:70632690:CATGT:C	donor_loss	1.0000
4:70632693:G:GG	donor_gain	1.0000
4:70632693:GTAA:G	donor_loss	1.0000
4:70632694:T:TC	donor_loss	1.0000
4:70632695:AAGT:A	donor_loss	1.0000
4:70634303:TTCA:T	acceptor_loss	1.0000
4:70634306:A:AG	acceptor_gain	1.0000
4:70634306:A:T	acceptor_loss	1.0000
4:70634306:AGAT:A	acceptor_gain	1.0000
4:70634307:G:GA	acceptor_loss	1.0000
4:70634307:G:GG	acceptor_gain	1.0000
4:70634307:GAT:G	acceptor_gain	1.0000
4:70634307:GATG:G	acceptor_gain	1.0000
4:70635826:CTCTA:C	acceptor_loss	1.0000
4:70635827:TCTAG:T	acceptor_loss	1.0000
4:70635828:CTAGG:C	acceptor_loss	1.0000
4:70635829:TAG:T	acceptor_loss	1.0000
4:70635830:A:AG	acceptor_gain	1.0000
4:70635830:A:G	acceptor_loss	1.0000

AlphaMissense

7576 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:70631879:A:C	S52R	0.987
4:70631881:T:A	S52R	0.987
4:70631881:T:G	S52R	0.987
4:70631885:A:C	S54R	0.987
4:70631887:T:A	S54R	0.987
4:70631887:T:G	S54R	0.987
4:70631873:T:C	F50L	0.986
4:70631875:T:A	F50L	0.986
4:70631875:T:G	F50L	0.986
4:70631892:A:T	E56V	0.980
4:70631889:A:T	E55V	0.978
4:70637826:A:C	S191R	0.978
4:70637828:C:A	S191R	0.978
4:70637828:C:G	S191R	0.978
4:70642024:T:C	F200L	0.976
4:70642026:T:A	F200L	0.976
4:70642026:T:G	F200L	0.976
4:70631891:G:A	E56K	0.975
4:70631886:G:T	S54I	0.968
4:70631883:A:T	K53I	0.967
4:70631880:G:T	S52I	0.965
4:70642057:C:A	R211S	0.963
4:70642033:T:C	F203L	0.959
4:70642035:T:A	F203L	0.959
4:70642035:T:G	F203L	0.959
4:70642084:T:C	F220L	0.959
4:70642086:T:A	F220L	0.959
4:70642086:T:G	F220L	0.959
4:70632669:T:C	F63L	0.956
4:70632671:C:A	F63L	0.956

dbSNP variants (sampled 300 via entrez): RS1000010635 (4:70627648 T>A), RS1000035921 (4:70631287 G>A), RS1000071270 (4:70627287 C>T), RS1000080815 (4:70626893 A>T), RS1000185100 (4:70641130 T>C), RS1000237270 (4:70641380 A>G,T), RS1000495167 (4:70645855 G>C), RS1000531546 (4:70634231 G>A,C,T), RS1000743168 (4:70627976 C>T), RS1000768767 (4:70646424 C>T), RS1001222404 (4:70646063 T>G), RS1001399631 (4:70633282 C>A), RS1001450653 (4:70630780 C>A,T), RS1001457515 (4:70640399 G>A), RS1001850986 (4:70632917 G>A)

Disease associations

OMIM: gene MIM:606585 | disease phenotypes: MIM:104500, MIM:204650

GenCC curated gene-disease

Disease	Classification	Inheritance
amelogenesis imperfecta type 1B	Definitive	Autosomal dominant
amelogenesis imperfecta type 1C	Strong	Autosomal recessive
amelogenesis imperfecta type 1	Strong	Semidominant

Mondo (4): amelogenesis imperfecta (MONDO:0019507), amelogenesis imperfecta type 1B (MONDO:0007092), amelogenesis imperfecta type 1C (MONDO:0008770), amelogenesis imperfecta type 1 (MONDO:0015047)

Orphanet (1): Amelogenesis imperfecta (Orphanet:88661)

HPO phenotypes

7 total (7 of 7 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000679	Taurodontia
HP:0000705	Amelogenesis imperfecta
HP:0006285	Enamel hypomineralization
HP:0006286	Yellow-brown discoloration of the teeth
HP:0009102	Anterior open-bite malocclusion

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009531_3	Body fat percentage	5.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007800	body fat percentage

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D000567	Amelogenesis Imperfecta	C07.650.800.295.250; C07.793.700.295.250; C16.131.850.800.295.250
C562879	Amelogenesis Imperfecta, Type IB (supp.)
C567147	Amelogenesis Imperfecta, Type Ic (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
cupric chloride	affects expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	increases methylation	1
Doxorubicin	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

8 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01746121	Not specified	TERMINATED	Amelogenesis Imperfecta
NCT02994862	Not specified	UNKNOWN	E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent
NCT03810859	Not specified	UNKNOWN	Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants
NCT04704089	Not specified	RECRUITING	Colorimetric, Ultra-structural and Elemental Comparison of Dental Enamel Defects
NCT04897724	Not specified	UNKNOWN	Clinical Performance of Composites in Patients With Amelogenesis Imperfecta
NCT04927962	Not specified	COMPLETED	Psycho-social Impact of Amelogenesis and Dentinogenesis Imperfecta
NCT05343247	Not specified	COMPLETED	Dental Age Estimation by Different Methods in Patients With Amelogenesis Imperfecta
NCT07250906	Not specified	RECRUITING	Oral Health Related Quality of Life of Children With Amelogenesis Imperfecta