Amelogenesis Imperfecta disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GARD: ¹⁹ Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be very small, discolored, pitted or grooved, and prone to rapid wear and breakage with early tooth decay and loss. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. People with this disease my also have problems involving the tissues surrounding teeth (periodontal tissues) such as gums, cementum, ligaments, and alveolar bones in which the tooth root rests. Teeth are also sensitive to either hot or cold exposures, and sometimes both. Severe and continuous pain due to exposed dentin resulting from the enamel defect is present in some cases. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.

MalaCards based summary: Amelogenesis Imperfecta, also known as al - [amelogenesis imperfecta], is related to amelogenesis imperfecta, type iiia and jalili syndrome. An important gene associated with Amelogenesis Imperfecta is AMELX (Amelogenin X-Linked), and among its related pathways/superpathways is Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The drug Salicylic acid has been mentioned in the context of this disorder. Affiliated tissues include Tooth, and related phenotypes are yellow-brown discoloration of the teeth and impaired mastication

MedlinePlus Genetics: ⁴² Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.

Orphanet: ⁵⁸ A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.

Disease Ontology: ¹¹ A dental enamel hypoplasia characterized by abnormal enamel formation.

Wikipedia: ⁷⁵ Amelogenesis imperfecta (AI) is a congenital disorder which presents with a rare abnormal formation of... more...

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Related Diseases for Amelogenesis Imperfecta

Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ib	Amelogenesis Imperfecta, Type Iv
Amelogenesis Imperfecta, Type Ia	Amelogenesis Imperfecta, Type Iiia
Amelogenesis Imperfecta, Type Ic	Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type Ie	Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if	Amelogenesis Imperfecta, Type Ij
Amelogenesis Imperfecta, Type Iiib	Amelogenesis Imperfecta, Type Iiic
Amelogenesis Imperfecta, Type Ik	Amelogenesis Imperfecta Type 2a1

Diseases related to Amelogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 177)

#	Related Disease	Score	Top Affiliating Genes
1	amelogenesis imperfecta, type iiia	33.9	WDR72 SLC24A4 ODAPH MMP20 KLK4 FAM83H
2	jalili syndrome	33.7	WDR72 ODAPH MMP20 FAM83H FAM20A ENAM
3	amelogenesis imperfecta, type iv	33.7	TUFT1 MMP20 FAM83H ENAM DLX3 AMTN
4	amelogenesis imperfecta, hypomaturation type, iia2	33.7	WDR72 ODAPH MMP20 ENAM AMTN
5	amelogenesis imperfecta, type ib	33.6	ENAM AMTN AMELX AMBN
6	amelogenesis imperfecta, type ic	33.6	MMP20 FAM20A ENAM AMELX
7	dental anomalies and short stature	33.6	MMP20 LTBP3 ENAM
8	amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2	33.5	TUFT1 AMTN AMELX AMBN
9	amelogenesis imperfecta, hypomaturation type, iia5	33.5	SLC24A4 ODAPH AMTN
10	amelogenesis imperfecta, type iiic	33.5	FAM83H AMTN
11	amelogenesis imperfecta, hypomaturation type, iia3	33.5	WDR72 ODAPH AMTN
12	kohlschutter-tonz syndrome	33.4	WDR72 FAM20A DLX3 CNNM4
13	amelogenesis imperfecta, type ie	33.2	ARHGAP6 AMELX
14	amelogenesis imperfecta hypomaturation type	33.2	WDR72 SLC24A4 ODAPH MMP20 KLK4 GPR68
15	hypoplastic amelogenesis imperfecta	33.1	LTBP3 FAM20A ENAM AMBN ACP4
16	heimler syndrome 1	32.7	ODAPH FAM20A DLX3 CNNM4
17	immunodeficiency 10	32.6	ODAPH ENAM AMBN
18	trichodentoosseous syndrome	31.7	WDR72 ODAPH MMP20 FAM83H FAM20A ENAM
19	tooth agenesis	31.6	WDR72 ODAPH MMP20 LTBP3 FAM20A ENAM
20	dental caries	31.6	TUFT1 KLK4 ENAM DLX3 AMELX AMBN
21	cone-rod dystrophy 2	31.6	WDR72 ODAPH MMP20 FAM83H FAM20A ENAM
22	junctional epidermolysis bullosa	31.5	WDR72 ODAPH MMP20 FAM83H FAM20A ENAM
23	gingival fibromatosis	31.4	ODAPH MMP20 FAM20A ENAM AMBN
24	dental pulp calcification	31.4	FAM20A ENAM DLX3 CNNM4 AMELX
25	dentin dysplasia	31.2	MMP20 ENAM AMELX AMBN
26	brachyolmia	31.0	WDR72 LTBP3
27	dental fluorosis	30.9	TUFT1 MMP20 KLK4 ENAM AMTN AMELX
28	hypercementosis	30.9	MMP20 FAM83H FAM20A ENAM AMELX AMBN
29	ameloblastoma	30.7	MMP20 AMELX AMBN
30	gingival recession	30.5	AMELX AMBN
31	amelogenesis imperfecta, type ig	11.9
32	amelogenesis imperfecta, type ia	11.9
33	amelogenesis imperfecta, type if	11.9
34	amelogenesis imperfecta, type ij	11.8
35	amelogenesis imperfecta, type ih	11.8
36	amelogenesis imperfecta, hypomaturation type, iia1	11.8
37	amelogenesis imperfecta, type iiib	11.8
38	amelogenesis imperfecta, hypomaturation type, iia4	11.8
39	amelogenesis imperfecta, hypomaturation type, iia6	11.8
40	developmental and epileptic encephalopathy 25 with amelogenesis imperfecta	11.7
41	amelogenesis imperfecta hypoplastic type, ig	11.7
42	amelogenesis imperfecta type 2a1	11.7
43	short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	11.6
44	amelogenesis imperfecta, type ik	11.5
45	trichodysplasia-amelogenesis imperfecta syndrome	11.4
46	amelogenesis imperfecta local hypoplastic	11.4
47	kohlschutter-tonz syndrome-like	11.3
48	hypomagnesemia 3, renal	11.2
49	hypomagnesemia 5, renal, with or without ocular involvement	11.1
50	hypogonadism-cataract syndrome	11.1

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta:

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Symptoms & Phenotypes for Amelogenesis Imperfecta

Human phenotypes related to Amelogenesis Imperfecta:

⁵⁸ ³⁰ (show all 19)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	yellow-brown discoloration of the teeth ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0006286
2	impaired mastication ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005216
3	hypocalcification of dental enamel ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011084
4	fragile teeth ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0025124
5	hypomature dental enamel ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011085
6	anterior open-bite malocclusion ³⁰	Frequent (33%)		HP:0009102
7	enamel hypoplasia ³⁰	Frequent (33%)		HP:0006297
8	widely spaced teeth ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000687
9	taurodontia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000679
10	multiple unerupted teeth ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0006283
11	abnormal jaw morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0030791
12	abnormal dentin morphology ³⁰	Occasional (7.5%)		HP:0010299
13	abnormality of dental color ⁵⁸		Very frequent (99-80%)
14	hypoplasia of dental enamel ⁵⁸		Frequent (79-30%)
15	hypoplasia of teeth ⁵⁸		Occasional (29-5%)
16	abnormality of dentin ⁵⁸		Occasional (29-5%)
17	hypomineralization of enamel ⁵⁸		Frequent (79-30%)
18	anterior open bite ⁵⁸		Frequent (79-30%)
19	abnormality of permanent molar morphology ⁵⁸		Occasional (29-5%)

GenomeRNAi Phenotypes related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.15	ACP4 AMBN AMELX AMELY AMTN ARHGAP6
2	no effect	GR00402-S-2	10.15	ACP4 AMBN AMELX AMELY ARHGAP6 CNNM4

MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.21	ACP4 AMBN AMELX AMELY AMTN ARHGAP6
2	craniofacial	MP:0005382	10.06	ACP4 AMBN AMELX AMELY AMTN CNNM4
3	renal/urinary system	MP:0005367	9.87	AMBN AMTN CNNM4 FAM20A FAM83H GPR68
4	skeleton	MP:0005390	9.53	ACP4 AMBN AMELX AMELY AMTN CNNM4
5	respiratory system	MP:0005388	9.5	AMELX AMELY FAM20A GPR68 KLK4 LTBP3

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Drugs & Therapeutics for Amelogenesis Imperfecta

Drugs for Amelogenesis Imperfecta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Salicylic acid

Approved, Investigational, Vet_approved

69-72-7

338

Interventional clinical trials:

#	Name	Status	NCT ID
1	One Year Clinical Evaluation of E. Max Laminate Veneers With and Without Using Galla Chinnesis as Natural Cross Linking and Remineralizing Agent Before Bonding to Teeth With Amelogenesis Imperfecta	Unknown status	NCT02994862
2	Evaluation of Dental Age of Children With Amelogenesis Imperfecta Using Willems Method, Cameriere European Formula, and London Atlas	Recruiting	NCT05343247
3	Colorimetric Comparison of Email Defects Using Spectrophotometric and Computer Techniques and Biological, Structural and Physico-chemical Analyses of Teeth or Pathological Enamel	Recruiting	NCT04704089
4	Psycho-social Impact of Amelogenesis and Dentinogenesis Imperfecta in Young People	Recruiting	NCT04927962
5	The Clinical Performance of Direct Posterior Composite Restorations in Patients With Amelogenesis Imperfecta	Active, not recruiting	NCT04897724
6	Non-syndromic Inherited Anomalies of Mineralized Tooth Tissues: a Whole Exome Study to Identify New Pathogenic Variants	Active, not recruiting	NCT03810859
7	Clinical and Molecular Study of Amelogenesis Imperfecta	Terminated	NCT01746121

Search NIH Clinical Center for Amelogenesis Imperfecta

Cochrane evidence based reviews: amelogenesis imperfecta

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Genetic Tests for Amelogenesis Imperfecta

Genetic tests related to Amelogenesis Imperfecta:

#	Genetic test	Affiliating Genes
1	Amelogenesis Imperfecta ²⁸

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Anatomical Context for Amelogenesis Imperfecta

Organs/tissues related to Amelogenesis Imperfecta:

MalaCards : Bone, Kidney, Skin

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Amelogenesis Imperfecta:

#	Tissue Anatomical CompartmentCell	Relevance
1	Tooth Dental Enamel Ameloblasts	Affected by disease
2	Tooth Dental Enamel Early Ameloblasts	Affected by disease

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Publications for Amelogenesis Imperfecta

Articles related to Amelogenesis Imperfecta:

(show top 50) (show all 1021)

#	Title	Authors	PMID	Year
1	First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta. ⁶² ⁵	Nouara F...Barakat A	35998423	2022
2	Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. ⁶² ⁵	Parry DA...Mighell AJ	27693231	2016
3	A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. ⁵³ ⁶²	Barron MJ...Dixon MJ	20067920	2010
4	The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation. ⁵³ ⁶²	Shore RC...Kirkham J	19923784	2010
5	MMP20 hemopexin domain mutation in amelogenesis imperfecta. ⁵³ ⁶²	Lee SK...Kim JW	19966041	2010
6	Evolutionary analysis of mammalian enamelin, the largest enamel protein, supports a crucial role for the 32-kDa peptide and reveals selective adaptation in rodents and primates. ⁵³ ⁶²	Al-Hashimi N...Delgado S	20012271	2009
7	Human and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4. ⁵³ ⁶²	Wright JT...Gibson CW	18714142	2009
8	The leucine-rich amelogenin peptide alters the amelogenin null enamel phenotype. ⁵³ ⁶²	Gibson CW...Wright JT	18701811	2009
9	The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. ⁵³ ⁶²	Bailleul-Forestier I...Berdal A	18499550	2008
10	Functions of KLK4 and MMP-20 in dental enamel formation. ⁵³ ⁶²	Lu Y...Simmer JP	18627287	2008
11	Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta. ⁵³ ⁶²	Tanimoto K...Li W	18434575	2008
12	Partial rescue of the amelogenin null dental enamel phenotype. ⁵³ ⁶²	Li Y...Gibson CW	18390542	2008
13	DLX3 mutation in a new family and its phenotypic variations. ⁵³ ⁶²	Lee SK...Kim JW	18362318	2008
14	Enamel defects and ameloblast-specific expression in Enam knock-out/lacz knock-in mice. ⁵³ ⁶²	Hu JC...Simmer JP	18252720	2008
15	Premature stop codon in MMP20 causing amelogenesis imperfecta. ⁵³ ⁶²	Papagerakis P...Hu JC	18096894	2008
16	Developmental biology and genetics of dental malformations. ⁵³ ⁶²	Hu JC...Simmer JP	17552940	2007
17	Transgenic mice that express normal and mutated amelogenins. ⁵³ ⁶²	Gibson CW...Wright JT	17384027	2007
18	Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta. ⁵³ ⁶²	Nakamura H...Shimizu H	16820943	2006
19	Effect of deproteinization on composite bond strength in hypocalcified amelogenesis imperfecta. ⁵³ ⁶²	Saroglu I...Oztas D	16700741	2006
20	A developmental comparison of matrix metalloproteinase-20 and amelogenin null mouse enamel. ⁵³ ⁶²	Bartlett JD...Gibson CW	16674657	2006
21	Genes and related proteins involved in amelogenesis imperfecta. ⁵³ ⁶²	Stephanopoulos G...Lyroudia K	16304440	2005
22	MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. ⁵³ ⁶²	Ozdemir D...Hart TC	16246936	2005
23	MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. ⁵³ ⁶²	Kim JW...Hu JC	15744043	2005
24	Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI). ⁵³ ⁶²	Masuya H...Shiroishi T	15649948	2005
25	ENAM mutations in autosomal-dominant amelogenesis imperfecta. ⁵³ ⁶²	Kim JW...Hu JC	15723871	2005
26	Amelogenesis imperfecta in a new animal model--a mutation in chromosome 5 (human 4q21). ⁵³ ⁶²	Seedorf H...Acil Y	15271968	2004
27	Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. ⁵³ ⁶²	Hart TC...Firatli E	14684688	2003
28	A transgenic animal model resembling amelogenesis imperfecta related to ameloblastin overexpression. ⁵³ ⁶²	Paine ML...Snead ML	12657627	2003
29	X-linked amelogenesis imperfecta may result from decreased formation of tyrosine rich amelogenin peptide (TRAP). ⁵³ ⁶²	Li W...DenBesten P	12648554	2003
30	Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. ⁵³ ⁶²	Wright JT...Hart TC	12952177	2003
31	Dental structural diseases mapping to human chromosome 4q21. ⁵³ ⁶²	MacDougall M	12952210	2003
32	Enamelin and autosomal-dominant amelogenesis imperfecta. ⁵³ ⁶²	Hu JC...Yamakoshi Y	14656895	2003
33	Amelogenesis imperfecta phenotype-genotype correlations with two amelogenin gene mutations. ⁵³ ⁶²	Hart PS...Wright JT	11922869	2002
34	A nomenclature for X-linked amelogenesis imperfecta. ⁵³ ⁶²	Hart PS...Wright JT	11922868	2002
35	Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta. ⁵³ ⁶²	Shore RC...Robinson C	12489199	2002
36	Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. ⁵³ ⁶²	Rajpar MH...Dixon MJ	11487571	2001
37	Cloning and characterization of the mouse and human enamelin genes. ⁵³ ⁶²	Hu JC...Simmer JP	11379892	2001
38	Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. ⁵³ ⁶²	Mardh CK...Forsman-Semb K	11330937	2001
39	Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. ⁵³ ⁶²	Dong J...MacDougall M	11037750	2000
40	Cloning, characterization and immunolocalization of human ameloblastin. ⁵³ ⁶²	MacDougall M...Berdal A	10946765	2000
41	Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. ⁵³ ⁶²	Ravassipour DB...Wright JT	11005731	2000
42	Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. ⁵³ ⁶²	Hu CC...Simmer JP	10831092	2000
43	PCR detection of the human amelogenin gene and its application to the diagnosis of amelogenesis imperfecta. ⁵³ ⁶²	Sekiguchi H...Yakushiji M	10218009	1998
44	Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21. ⁵³ ⁶²	MacDougall M...Forsman K	9126491	1997
45	DNA diagnosis of X-linked amelogenesis imperfecta (AIH1). ⁵³ ⁶²	Lench NJ...Brook AH	9083938	1997
46	Molecular biology of hereditary enamel defects. ⁵³ ⁶²	Aldred MJ...Crawford PJ	9189626	1997
47	Tuftelin: enamel mineralization and amelogenesis imperfecta. ⁵³ ⁶²	Deutsch D...Fisher LW	9189622	1997
48	Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. ⁵³ ⁶²	Lagerstrom-Fermer M...Landegren U	7782077	1995
49	Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). ⁵³ ⁶²	Lench NJ...Winter GB	7599636	1995
50	Enamel matrix proteins and ameloblast biology. ⁵³ ⁶²	Deutsch D...Palmon A	7554940	1995

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Genes for Amelogenesis Imperfecta

Genes related to Amelogenesis Imperfecta (7 elite genes):

(show top 50) (show all 122)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AMELX	Amelogenin X-Linked	Protein Coding	460.88	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	12952177 7782077 8081371 (more) 1916828 1358807 1483698 7599636 10218009 9083938 18701811 11005731 11922869 16304440 17384027 11922868 18390542 20067920
2	ENAM	Enamelin	Protein Coding	450.68	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name (show sections)	11037750 19923784 15723871 (more) 20012271 14656895 11379892 18252720 16304440 15649948 11487571 18714142 10831092 14684688
3	KLK4	Kallikrein Related Peptidase 4	Protein Coding	436.59	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	18096894 18627287 19966041 (more) 18714142
4	SLC24A4	Solute Carrier Family 24 Member 4	Protein Coding	433.6	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)
5	GPR68	G Protein-Coupled Receptor 68	Protein Coding	432.67	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	27693231
6	ARHGAP6	Rho GTPase Activating Protein 6	Protein Coding	412.93	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	SP6	Sp6 Transcription Factor	Protein Coding	411.9	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
8	DLX3	Distal-Less Homeobox 3	Protein Coding	70.47	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	18362318
9	WDR72	WD Repeat Domain 72	Protein Coding	60.79	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
10	MMP20	Matrix Metallopeptidase 20	Protein Coding	48.77	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	18096894 16246936 18434575 (more) 19966041 15744043 12648554 18627287 16674657
11	LTBP3	Latent Transforming Growth Factor Beta Binding Protein 3	Protein Coding	46.83	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	35998423
12	ODAPH	Odontogenesis Associated Phosphoprotein	Protein Coding	45.36	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
13	AMBN	Ameloblastin	Protein Coding	39.16	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	11330937 12657627 9126491 (more) 9189626 10946765
14	FAM83H	Family With Sequence Similarity 83 Member H	Protein Coding	36.98	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
15	FAM20A	FAM20A Golgi Associated Secretory Pathway Pseudokinase	Protein Coding	36.6	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
16	CNNM4	Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4	Protein Coding	35.43	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
17	AMELY	Amelogenin Y-Linked	Protein Coding	26.51	Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	10218009
18	TUFT1	Tuftelin 1	Protein Coding	26.19	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	7554940 9189626 9189622
19	AMTN	Amelotin	Protein Coding	24.83	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
20	ACP4	Acid Phosphatase 4	Protein Coding	24.15	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
21	LAMB3	Laminin Subunit Beta 3	Protein Coding	24.01	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
22	SLC10A7	Solute Carrier Family 10 Member 7	Protein Coding	23.5	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
23	ITGB6	Integrin Subunit Beta 6	Protein Coding	23.14	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
24	DSPP	Dentin Sialophosphoprotein	Protein Coding	23.06	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17552940 12952210 18499550 (more) 15271968 12489199 16700741
25	RELT	RELT TNF Receptor	Protein Coding	22.88	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
26	COL17A1	Collagen Type XVII Alpha 1 Chain	Protein Coding	19.67	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16820943
27	AIH3	Amelogenesis Imperfecta 3, Hypomaturation Or Hypoplastic Type	Genetic Locus	17.69	GeneCards inferred via : Publications Gene name (show sections)
28	ROGDI	Rogdi Atypical Leucine Zipper	Protein Coding	15.29	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
29	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	13.48	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
30	MSX2	Msh Homeobox 2	Protein Coding	13.18	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
31	SLC13A5	Solute Carrier Family 13 Member 5	Protein Coding	13.04	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
32	LAMA3	Laminin Subunit Alpha 3	Protein Coding	12.86	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
33	MIR3914-1	MicroRNA 3914-1	RNA Gene	12.01	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
34	HPX	Hemopexin	Protein Coding	11.23	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
35	NF1	Neurofibromin 1	Protein Coding	10.95	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	TP63	Tumor Protein P63	Protein Coding	10.94	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
37	HCCS	Holocytochrome C Synthase	Protein Coding	10.91	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
38	MIR3195	MicroRNA 3195	RNA Gene	10.65	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	SLC24A5	Solute Carrier Family 24 Member 5	Protein Coding	10.64	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	10.61	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	ESR2	Estrogen Receptor 2	Protein Coding	10.35	DISEASES inferred ¹⁴
42	ESR1	Estrogen Receptor 1	Protein Coding	9.85	DISEASES inferred ¹⁴
43	GPER1	G Protein-Coupled Estrogen Receptor 1	Protein Coding	9.49	DISEASES inferred ¹⁴
44	LCOR	Ligand Dependent Nuclear Receptor Corepressor	Protein Coding	8.72	DISEASES inferred ¹⁴ ¹⁴
45	PEX1	Peroxisomal Biogenesis Factor 1	Protein Coding	8.57	GeneCards inferred via : Disorders (show sections)
46	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	8.12	DISEASES inferred ¹⁴
47	CKAP4	Cytoskeleton Associated Protein 4	Protein Coding	7.82	GeneCards inferred via : Publications (show sections)
48	CXADR	CXADR Ig-Like Cell Adhesion Molecule	Protein Coding	7.82	GeneCards inferred via : Publications (show sections)
49	MIR1306	MicroRNA 1306	RNA Gene	7.82	GeneCards inferred via : Publications (show sections)
50	MIR3914-2	MicroRNA 3914-2	RNA Gene	7.82	GeneCards inferred via : Publications (show sections)

Sources

Variations for Amelogenesis Imperfecta

ClinVar genetic disease variations for Amelogenesis Imperfecta:

⁵ (show top 50) (show all 117)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GPR68	NM_001177676.2(GPR68):c.667_668del (p.Lys223fs)	DEL	Pathogenic	268085	rs1057517671	GRCh37: 14:91700727-91700728 GRCh38: 14:91234383-91234384
2	GPR68	NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)	SNV	Pathogenic	268086	rs1057517672	GRCh37: 14:91701174-91701174 GRCh38: 14:91234830-91234830
3	GPR68	NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del)	DEL	Pathogenic	268084	rs1555409827	GRCh37: 14:91700560-91701009 GRCh38: 14:91234216-91234665
4	ARHGAP6, AMELX	NM_001142.2(AMELX):c.143del (p.Pro48fs)	DEL	Pathogenic	617639	rs1603038146	GRCh37: X:11316395-11316395 GRCh38: X:11298275-11298275
5	ENAM	NM_031889.3(ENAM):c.-61+1G>A	SNV	Pathogenic	1012267		GRCh37: 4:71494682-71494682 GRCh38: 4:70628965-70628965
6	SLC24A4	NM_153646.4(SLC24A4):c.613C>T (p.Arg205Ter)	SNV	Pathogenic	1326286		GRCh37: 14:92909774-92909774 GRCh38: 14:92443430-92443430
7	GPR68	NM_001177676.2(GPR68):c.78_83delinsC (p.Val27fs)	INDEL	Pathogenic	1326287		GRCh37: 14:91701312-91701317 GRCh38: 14:91234968-91234973
8	KLK4	NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)	SNV	Pathogenic	1327588		GRCh37: 19:51410318-51410318 GRCh38: 19:50907062-50907062
9	KLK4	NM_004917.5(KLK4):c.170C>A (p.Ser57Ter)	SNV	Pathogenic	1327589		GRCh37: 19:51412562-51412562 GRCh38: 19:50909306-50909306
10	SP6	NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)	INDEL	Pathogenic	997829		GRCh37: 17:45924978-45924979 GRCh38: 17:47847612-47847613
11	LTBP3	NM_001130144.3(LTBP3):c.3716G>A (p.Cys1239Tyr)	SNV	Likely Pathogenic	1694478		GRCh37: 11:65306843-65306843 GRCh38: 11:65539372-65539372
12	WDR72	NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)	SNV	Likely Pathogenic	517616	rs770804941	GRCh37: 15:54025259-54025259 GRCh38: 15:53733062-53733062
13	DLX3	NM_005220.3(DLX3):c.574dup (p.Glu192fs)	DUP	Likely Pathogenic	373912	rs1057518764	GRCh37: 17:48069170-48069171 GRCh38: 17:49991806-49991807
14	ENAM	NM_031889.3(ENAM):c.-112A>G	SNV	Uncertain Significance	349490	rs886059581	GRCh37: 4:71494630-71494630 GRCh38: 4:70628913-70628913
15	ENAM	NM_031889.3(ENAM):c.3277C>T (p.Pro1093Ser)	SNV	Uncertain Significance	349508	rs35951442	GRCh37: 4:71510420-71510420 GRCh38: 4:70644703-70644703
16	ENAM	NM_031889.3(ENAM):c.*605T>C	SNV	Uncertain Significance	349519	rs886059591	GRCh37: 4:71511177-71511177 GRCh38: 4:70645460-70645460
17	ENAM	NM_031889.3(ENAM):c.1945G>A (p.Val649Ile)	SNV	Uncertain Significance	349500	rs199541879	GRCh37: 4:71509088-71509088 GRCh38: 4:70643371-70643371
18	ENAM	NM_031889.3(ENAM):c.*422G>T	SNV	Uncertain Significance	349516	rs886059589	GRCh37: 4:71510994-71510994 GRCh38: 4:70645277-70645277
19	ENAM	NM_031889.3(ENAM):c.1103G>A (p.Arg368His)	SNV	Uncertain Significance	349498	rs780933451	GRCh37: 4:71508246-71508246 GRCh38: 4:70642529-70642529
20	ENAM	NM_031889.3(ENAM):c.3007G>A (p.Glu1003Lys)	SNV	Uncertain Significance	349507	rs775162070	GRCh37: 4:71510150-71510150 GRCh38: 4:70644433-70644433
21	ENAM	NM_031889.3(ENAM):c.*985C>T	SNV	Uncertain Significance	349521	rs182854472	GRCh37: 4:71511557-71511557 GRCh38: 4:70645840-70645840
22	ENAM	NM_031889.3(ENAM):c.*1241C>A	SNV	Uncertain Significance	349524	rs556213549	GRCh37: 4:71511813-71511813 GRCh38: 4:70646096-70646096
23	ENAM	NM_031889.3(ENAM):c.3400G>T (p.Val1134Leu)	SNV	Uncertain Significance	349510	rs200396980	GRCh37: 4:71510543-71510543 GRCh38: 4:70644826-70644826
24	ENAM	NM_031889.3(ENAM):c.2686T>A (p.Tyr896Asn)	SNV	Uncertain Significance	349504	rs754676479	GRCh37: 4:71509829-71509829 GRCh38: 4:70644112-70644112
25	ENAM	NM_031889.3(ENAM):c.-25G>A	SNV	Uncertain Significance	349492	rs778175689	GRCh37: 4:71495193-71495193 GRCh38: 4:70629476-70629476
26	ENAM	NM_031889.3(ENAM):c.888C>T (p.Asn296=)	SNV	Uncertain Significance	349495	rs778224567	GRCh37: 4:71508031-71508031 GRCh38: 4:70642314-70642314
27	ENAM	NM_031889.3(ENAM):c.*1211T>G	SNV	Uncertain Significance	349523	rs886059593	GRCh37: 4:71511783-71511783 GRCh38: 4:70646066-70646066
28	ENAM	NM_031889.3(ENAM):c.-218A>G	SNV	Uncertain Significance	349488	rs886059580	GRCh37: 4:71494524-71494524 GRCh38: 4:70628807-70628807
29	ENAM	NM_031889.3(ENAM):c.-111A>T	SNV	Uncertain Significance	349491	rs886059582	GRCh37: 4:71494631-71494631 GRCh38: 4:70628914-70628914
30	ENAM	NM_031889.3(ENAM):c.*156G>A	SNV	Uncertain Significance	349512	rs886059587	GRCh37: 4:71510728-71510728 GRCh38: 4:70645011-70645011
31	ENAM	NM_031889.3(ENAM):c.2998C>G (p.Gln1000Glu)	SNV	Uncertain Significance	349506	rs886059585	GRCh37: 4:71510141-71510141 GRCh38: 4:70644424-70644424
32	ENAM	NM_031889.3(ENAM):c.3310C>A (p.Gln1104Lys)	SNV	Uncertain Significance	349509	rs114751362	GRCh37: 4:71510453-71510453 GRCh38: 4:70644736-70644736
33	ENAM	NM_031889.3(ENAM):c.871C>T (p.Pro291Ser)	SNV	Uncertain Significance	349494	rs752076298	GRCh37: 4:71508014-71508014 GRCh38: 4:70642297-70642297
34	ENAM	NM_031889.3(ENAM):c.*69T>A	SNV	Uncertain Significance	349511	rs886059586	GRCh37: 4:71510641-71510641 GRCh38: 4:70644924-70644924
35	ENAM	NM_031889.3(ENAM):c.899A>G (p.Gln300Arg)	SNV	Uncertain Significance	349496	rs886059583	GRCh37: 4:71508042-71508042 GRCh38: 4:70642325-70642325
36	ENAM	NM_031889.3(ENAM):c.584G>T (p.Gly195Val)	SNV	Uncertain Significance	349493	rs143129444	GRCh37: 4:71503556-71503556 GRCh38: 4:70637839-70637839
37	ENAM	NM_031889.3(ENAM):c.2573C>T (p.Ser858Leu)	SNV	Uncertain Significance	349503	rs774203624	GRCh37: 4:71509716-71509716 GRCh38: 4:70643999-70643999
38	ENAM	NM_031889.3(ENAM):c.2172G>A (p.Pro724=)	SNV	Uncertain Significance	349501	rs149573021	GRCh37: 4:71509315-71509315 GRCh38: 4:70643598-70643598
39	ENAM	NM_031889.3(ENAM):c.1080G>A (p.Arg360=)	SNV	Uncertain Significance	349497	rs765775414	GRCh37: 4:71508223-71508223 GRCh38: 4:70642506-70642506
40	ENAM	NM_031889.3(ENAM):c.2688T>A (p.Tyr896Ter)	SNV	Uncertain Significance	632447	rs778381344	GRCh37: 4:71509831-71509831 GRCh38: 4:70644114-70644114
41	ENAM	NM_031889.3(ENAM):c.*1528C>T	SNV	Uncertain Significance	904338	rs141963911	GRCh37: 4:71512100-71512100 GRCh38: 4:70646383-70646383
42	ENAM	NM_031889.3(ENAM):c.1265C>G (p.Pro422Arg)	SNV	Uncertain Significance	904988	rs777996409	GRCh37: 4:71508408-71508408 GRCh38: 4:70642691-70642691
43	ENAM	NM_031889.3(ENAM):c.1289A>G (p.Asn430Ser)	SNV	Uncertain Significance	904989	rs769265756	GRCh37: 4:71508432-71508432 GRCh38: 4:70642715-70642715
44	ENAM	NM_031889.3(ENAM):c.1656C>G (p.Ile552Met)	SNV	Uncertain Significance	904990	rs145361338	GRCh37: 4:71508799-71508799 GRCh38: 4:70643082-70643082
45	ENAM	NM_031889.3(ENAM):c.1827G>A (p.Arg609=)	SNV	Uncertain Significance	904991	rs375265900	GRCh37: 4:71508970-71508970 GRCh38: 4:70643253-70643253
46	ENAM	NM_031889.3(ENAM):c.*222A>G	SNV	Uncertain Significance	905058	rs1161162098	GRCh37: 4:71510794-71510794 GRCh38: 4:70645077-70645077
47	ENAM	NM_031889.3(ENAM):c.637C>T (p.Pro213Ser)	SNV	Uncertain Significance	904206	rs369065889	GRCh37: 4:71507780-71507780 GRCh38: 4:70642063-70642063
48	ENAM	NM_031889.3(ENAM):c.950G>A (p.Arg317His)	SNV	Uncertain Significance	904207	rs373870116	GRCh37: 4:71508093-71508093 GRCh38: 4:70642376-70642376
49	ENAM	NM_031889.3(ENAM):c.1072G>A (p.Gly358Ser)	SNV	Uncertain Significance	904208	rs147295492	GRCh37: 4:71508215-71508215 GRCh38: 4:70642498-70642498
50	ENAM	NM_031889.3(ENAM):c.2816G>A (p.Arg939Lys)	SNV	Uncertain Significance	904264	rs752376600	GRCh37: 4:71509959-71509959 GRCh38: 4:70644242-70644242

Sources

Expression for Amelogenesis Imperfecta

Search GEO for disease gene expression data for Amelogenesis Imperfecta.

Sources

Pathways for Amelogenesis Imperfecta

Pathways directly related to Amelogenesis Imperfecta:

#	Pathway	Source
1	Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)	Reactome ⁶⁶

Pathways related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) ⁶⁶ Show member pathways Post-translational protein phosphorylation ⁶⁶	11.39	FAM20A ENAM AMTN AMELX AMBN

Sources

GO Terms for Amelogenesis Imperfecta

Cellular components related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.98	TUFT1 ODAPH MMP20 LTBP3 KLK4 FAM20A
2	extracellular matrix	GO:0031012	9.23	MMP20 LTBP3 ENAM AMTN AMELX

Biological processes related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	odontogenesis of dentin-containing tooth	GO:0042475	9.92	DLX3 AMTN AMELX AMBN
2	extracellular matrix disassembly	GO:0022617	9.91	WDR72 MMP20 KLK4
3	amelogenesis	GO:0097186	9.85	AMELX ENAM KLK4 MMP20 SLC24A4
4	odontogenesis	GO:0042476	9.77	TUFT1 SP6 ACP4
5	positive regulation of enamel mineralization	GO:0070175	9.73	ODAPH ENAM AMTN
6	enamel mineralization	GO:0070166	9.73	WDR72 SLC24A4 FAM20A CNNM4 AMELY AMELX
7	positive regulation of biomineral tissue development	GO:0070169	9.71	ODAPH AMTN
8	biomineral tissue development	GO:0031214	9.58	WDR72 TUFT1 KLK4 FAM83H FAM20A ENAM

Molecular functions related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of tooth enamel	GO:0030345	9.32	TUFT1 ENAM AMELY AMELX AMBN

Sources

Sources for Amelogenesis Imperfecta

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

AI MCID: AML002 MIFTS: 55	Amelogenesis Imperfecta (AI) Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Amelogenesis Imperfecta (AI)

Aliases & Classifications for Amelogenesis Imperfecta

MalaCards integrated aliases for Amelogenesis Imperfecta:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Amelogenesis Imperfecta

Related Diseases for Amelogenesis Imperfecta

Diseases in the Amelogenesis Imperfecta family:

Diseases related to Amelogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta:

Symptoms & Phenotypes for Amelogenesis Imperfecta

Human phenotypes related to Amelogenesis Imperfecta:

GenomeRNAi Phenotypes related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

MGI Mouse Phenotypes related to Amelogenesis Imperfecta:

Drugs & Therapeutics for Amelogenesis Imperfecta

Drugs for Amelogenesis Imperfecta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: amelogenesis imperfecta

Genetic Tests for Amelogenesis Imperfecta

Genetic tests related to Amelogenesis Imperfecta:

Anatomical Context for Amelogenesis Imperfecta

Organs/tissues related to Amelogenesis Imperfecta:

Publications for Amelogenesis Imperfecta

Articles related to Amelogenesis Imperfecta:

Genes for Amelogenesis Imperfecta

Genes related to Amelogenesis Imperfecta (7 elite genes):

Variations for Amelogenesis Imperfecta

ClinVar genetic disease variations for Amelogenesis Imperfecta:

Expression for Amelogenesis Imperfecta

Pathways for Amelogenesis Imperfecta

Pathways directly related to Amelogenesis Imperfecta:

Pathways related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

GO Terms for Amelogenesis Imperfecta

Cellular components related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

Biological processes related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

Molecular functions related to Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

Sources for Amelogenesis Imperfecta