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

AI4 MCID: AML020 MIFTS: 39	Amelogenesis Imperfecta, Type Iv (AI4) Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Amelogenesis Imperfecta, Type Iv

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iv:

Name: Amelogenesis Imperfecta, Type Iv ⁵⁶ ²⁹ ⁶ ³⁹ ⁷¹

Amelogenesis Imperfecta Type 4 ¹² ⁵⁸ ¹⁵

Aihht ⁵⁶ ¹² ⁷³

Ai4 ⁵⁶ ¹² ⁷³

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism ⁵⁶ ¹³

Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type with Taurodontism ¹² ⁷³

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism; Aihht ⁵⁶

Hypomaturation-Hypoplastic Amelogenesis Imperfecta with Taurodontism ⁵⁸

Amelogenesis Imperfecta Hypoplastic-Hypomaturation with Taurodontism ³⁶

Amelogenesis Imperfecta 2 Hypocalcification Type ⁷³

Amelogenesis Imperfecta Hypomineralization Type ⁷³

Amelogenesis Imperfecta with Taurodontism ⁷³

Amelogenesis Imperfecta Type Iv ⁷³

Amelogenesis Imperfecta 4 ⁷³

Ait ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Inheritance: Autosomal dominant;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

amelogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Oral diseases Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

Disorders of tooth development and eruption

Hereditary disturbances in tooth structure, not elsewhere classified

Orphanet: ⁵⁸

Rare odontological diseases

External Ids:

Disease Ontology ¹² DOID:0110053

OMIM ⁵⁶ 104510

OMIM Phenotypic Series ⁵⁶ PS104500

KEGG ³⁶ H00618

MeSH ⁴³ D000567

ICD10 ³² K00.5

ICD10 via Orphanet ³³ K00.5

UMLS via Orphanet ⁷² C0399373 C1863012

Orphanet ⁵⁸ ORPHA100034

MedGen ⁴¹ C1863012

SNOMED-CT via HPO ⁶⁸ 263681008 51744007 78494001

UMLS ⁷¹ C1863012

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Summaries for Amelogenesis Imperfecta, Type Iv

KEGG : ³⁶ Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia, AIHHT patients do not show hair and bone abnormalities. AIHHT is an autosomal dominant trait.

MalaCards based summary : Amelogenesis Imperfecta, Type Iv, also known as amelogenesis imperfecta type 4, is related to trichodentoosseous syndrome and amelogenesis imperfecta, type iiia. An important gene associated with Amelogenesis Imperfecta, Type Iv is DLX3 (Distal-Less Homeobox 3), and among its related pathways/superpathways is Primary immunodeficiency. Affiliated tissues include bone and salivary gland, and related phenotypes are taurodontia and amelogenesis imperfecta

Disease Ontology : ¹² An amelogenesis imperfecta which can has material basis in mutation in the DLX3 gene.

UniProtKB/Swiss-Prot : ⁷³ Amelogenesis imperfecta 4: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.

More information from OMIM: 104510 PS104500

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Related Diseases for Amelogenesis Imperfecta, Type Iv

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 2a1

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

(show top 50) (show all 97)

#	Related Disease	Score	Top Affiliating Genes
1	trichodentoosseous syndrome	11.9
2	amelogenesis imperfecta, type iiia	11.9
3	amelogenesis imperfecta, hypomaturation type, iia2	11.6
4	amelogenesis imperfecta, hypomaturation type, iia1	11.6
5	epileptic encephalopathy, early infantile, 51	11.3
6	taurodontism	10.8
7	amelogenesis imperfecta	10.8
8	hypoplastic amelogenesis imperfecta	10.5
9	dentin dysplasia	10.3
10	amelogenesis imperfecta hypomaturation type	10.3
11	graves disease 1	10.3
12	rapidly involuting congenital hemangioma	10.3
13	pediculus humanus capitis infestation	10.3	MT-CYB MT-CO1
14	mucocutaneous leishmaniasis	10.2	MT-CYB CD8A
15	oesophagostomiasis	10.2	MT-CYB MT-CO1
16	sparganosis	10.2	MT-CYB MT-CO1
17	mitochondrial myopathy, infantile, transient	10.2	MT-CYB MT-CO1
18	myiasis	10.2	MT-CYB MT-CO1
19	chronic meningitis	10.2	MT-CO1 ADCY4
20	thelaziasis	10.2	MT-CYB MT-CO1
21	pneumocystosis	10.2	MT-CYB CD8A
22	hepatocellular carcinoma	10.2
23	hair whorl	10.2
24	allergic rhinitis	10.2
25	dysentery	10.2
26	rhinitis	10.2
27	hyperthyroidism	10.2
28	allergic asthma	10.2
29	babesiosis	10.2	MT-CYB MT-CO1
30	alveolar echinococcosis	10.2	MT-CO1 CD8A
31	t cell deficiency	10.2	RAG1 CD8A
32	echinococcosis	10.2	MT-CO1 CD8A
33	myasthenic syndrome, congenital, 10	10.1	MT-CYB MT-CO1
34	brachydactyly, type c	10.1	G6PC2 CD8A
35	inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1	10.1	MT-CYB CD8A
36	pthirus pubis infestation	10.1	MT-CYB MT-CO1
37	lice infestation	10.1	MT-CYB MT-CO1
38	autism	10.1
39	asthma	10.1
40	autism spectrum disorder	10.1
41	pollen allergy	10.1
42	dermatitis	10.1
43	lipid metabolism disorder	10.1
44	taeniasis	10.0	MT-CYB MT-CO1 CD8A
45	parasitic ectoparasitic infectious disease	10.0	MT-CYB MT-CO1
46	parasitic protozoa infectious disease	10.0	MT-CYB MT-CO1 CD8A
47	optic nerve disease	10.0	MT-CYB MT-CO1 CD8A
48	endometrial stromal tumor	10.0	MT-CYB MT-CO1
49	colorectal cancer	10.0
50	hypercholesterolemia, familial, 1	10.0

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

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Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iv

Human phenotypes related to Amelogenesis Imperfecta, Type Iv:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	taurodontia ³¹		HP:0000679
2	amelogenesis imperfecta ³¹		HP:0000705

Symptoms via clinical synopsis from OMIM:

⁵⁶

Teeth:
amelogenesis imperfecta, hypomaturation-hypoplasia type
taurodontism

Clinical features from OMIM:

104510

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Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iv

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Type Iv

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Genetic Tests for Amelogenesis Imperfecta, Type Iv

Genetic tests related to Amelogenesis Imperfecta, Type Iv:

#	Genetic test	Affiliating Genes
1	Amelogenesis Imperfecta, Type Iv ²⁹	DLX3

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Anatomical Context for Amelogenesis Imperfecta, Type Iv

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Iv:

⁴⁰

Bone, Salivary Gland

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Publications for Amelogenesis Imperfecta, Type Iv

Articles related to Amelogenesis Imperfecta, Type Iv:

#	Title	Authors	PMID	Year
1	DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. ⁶¹ ⁶ ⁵⁶	Dong J...MacDougall M	15666299	2005
2	DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. ⁶ ⁵⁶	Wright JT...Luder HU	18203197	2008
3	Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. ⁵⁶ ⁶¹	Price JA...Hart TC	10466415	1999
4	Analysis of the tricho-dento-osseous syndrome genotype and phenotype. ⁵⁶	Wright JT...Hart TC	9382143	1997
5	Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. ⁵⁶	Seow WK	8375104	1993
6	Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? ⁵⁶	Crawford PJ...Aldred MJ	2387085	1990
7	Amelogenesis imperfecta: autosomal dominant hypomaturation-hypoplasia type with taurodontism. ⁵⁶	Crawford PJ...Aldred MJ	3422811	1988
8	Amelogenesis imperfecta with taurodontism. ⁵⁶	Congleton J...Burkes EJ	292959	1979
9	DLX3 mutation in a new family and its phenotypic variations. ⁶¹	Lee SK...Kim JW	18362318	2008
10	Severely hypoplastic amelogenesis imperfecta with taurodontism. ⁶¹	Pavlic A...Alaluusua S	17559453	2007

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Genes for Amelogenesis Imperfecta, Type Iv

Genes related to Amelogenesis Imperfecta, Type Iv (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DLX3	Distal-Less Homeobox 3	Protein Coding	1367.02	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	18203197 15666299
2	G6PC2	Glucose-6-Phosphatase Catalytic Subunit 2	Protein Coding	6.76	DISEASES inferred ¹⁵
3	NIT1	Nitrilase 1	Protein Coding	6.3	DISEASES inferred ¹⁵
4	RAG1	Recombination Activating 1	Protein Coding	6.26	DISEASES inferred ¹⁵
5	TMBIM6	Transmembrane BAX Inhibitor Motif Containing 6	Protein Coding	6.15	DISEASES inferred ¹⁵
6	ADCY4	Adenylate Cyclase 4	Protein Coding	6.12	DISEASES inferred ¹⁵
7	MT-CYB	Mitochondrially Encoded Cytochrome B	Protein Coding	6.07	DISEASES inferred ¹⁵
8	CD8A	CD8a Molecule	Protein Coding	5.96	DISEASES inferred ¹⁵
9	CBWD1	COBW Domain Containing 1	Protein Coding	5.58	DISEASES inferred ¹⁵
10	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	5.55	DISEASES inferred ¹⁵
11	SNORA54	Small Nucleolar RNA, H/ACA Box 54	RNA Gene	5.54	DISEASES inferred ¹⁵
12	FAM170A	Family With Sequence Similarity 170 Member A	Protein Coding	5.53	DISEASES inferred ¹⁵
13	MRPS5	Mitochondrial Ribosomal Protein S5	Protein Coding	5.52	DISEASES inferred ¹⁵
14	AMTN	Amelotin	Protein Coding	5.45	DISEASES inferred ¹⁵
15	CBWD3	COBW Domain Containing 3	Protein Coding	5.4	DISEASES inferred ¹⁵
16	COA3	Cytochrome C Oxidase Assembly Factor 3	Protein Coding	5.39	DISEASES inferred ¹⁵

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Variations for Amelogenesis Imperfecta, Type Iv

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iv:

⁶ (show top 50) (show all 67) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DLX3	NM_005220.3(DLX3):c.574del (p.Glu192fs)	deletion	Pathogenic	430607	rs1057518764	17:48069171-48069171	17:49991807-49991807
2	DLX3	NM_005220.3(DLX3):c.476G>T (p.Arg159Leu)	SNV	Pathogenic	430609	rs1555617226	17:48070804-48070804	17:49993440-49993440
3	DLX3	NM_005220.3(DLX3):c.559_560CT[1] (p.Tyr188fs)	short repeat	Pathogenic	9073	rs387906406	17:48069183-48069184	17:49991819-49991820
4	DLX3	NM_005220.3(DLX3):c.90T>C (p.Pro30=)	SNV	Conflicting interpretations of pathogenicity	193301	rs145424773	17:48072273-48072273	17:49994909-49994909
5	DLX3	NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)	SNV	Conflicting interpretations of pathogenicity	289857	rs142563930	17:48069035-48069035	17:49991671-49991671
6	DLX3	NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)	SNV	Conflicting interpretations of pathogenicity	290750	rs147702169	17:48072281-48072281	17:49994917-49994917
7	DLX3	NM_005220.3(DLX3):c.*1505G>A	SNV	Uncertain significance	323999	rs768920190	17:48067376-48067376	17:49990012-49990012
8	DLX3	NM_005220.3(DLX3):c.-62C>A	SNV	Uncertain significance	889646		17:48072424-48072424	17:49995060-49995060
9	DLX3	NM_005220.3(DLX3):c.-121C>T	SNV	Uncertain significance	889647		17:48072483-48072483	17:49995119-49995119
10	DLX3	NM_005220.3(DLX3):c.326-15G>T	SNV	Uncertain significance	888964		17:48070969-48070969	17:49993605-49993605
11	DLX3	NM_005220.3(DLX3):c.*83G>A	SNV	Uncertain significance	324019	rs886053134	17:48068798-48068798	17:49991434-49991434
12	DLX3	NM_005220.3(DLX3):c.846C>A (p.Asn282Lys)	SNV	Uncertain significance	324020	rs886053135	17:48068899-48068899	17:49991535-49991535
13	DLX3	NM_005220.3(DLX3):c.*548C>T	SNV	Uncertain significance	890607		17:48068333-48068333	17:49990969-49990969
14	DLX3	NM_005220.3(DLX3):c.746A>C (p.Asn249Thr)	SNV	Uncertain significance	892357		17:48068999-48068999	17:49991635-49991635
15	DLX3	NM_005220.3(DLX3):c.*1408G>A	SNV	Uncertain significance	891092		17:48067473-48067473	17:49990109-49990109
16	DLX3	NM_005220.3(DLX3):c.*1164A>G	SNV	Uncertain significance	892305		17:48067717-48067717	17:49990353-49990353
17	DLX3	NM_005220.3(DLX3):c.*1025G>T	SNV	Uncertain significance	888907		17:48067856-48067856	17:49990492-49990492
18	DLX3	NM_005220.3(DLX3):c.*812G>A	SNV	Uncertain significance	890602		17:48068069-48068069	17:49990705-49990705
19	DLX3	NM_005220.3(DLX3):c.*726T>C	SNV	Uncertain significance	890603		17:48068155-48068155	17:49990791-49990791
20	DLX3	NM_005220.3(DLX3):c.*437G>A	SNV	Uncertain significance	891160		17:48068444-48068444	17:49991080-49991080
21	DLX3	NM_005220.3(DLX3):c.*429C>G	SNV	Uncertain significance	891161		17:48068452-48068452	17:49991088-49991088
22	DLX3	NM_005220.3(DLX3):c.*75G>A	SNV	Uncertain significance	892355		17:48068806-48068806	17:49991442-49991442
23	DLX3	NM_005220.3(DLX3):c.140A>G (p.Gln47Arg)	SNV	Uncertain significance	324026	rs773002632	17:48072223-48072223	17:49994859-49994859
24	DLX3	NM_005220.3(DLX3):c.*1272T>C	SNV	Uncertain significance	324003	rs192378506	17:48067609-48067609	17:49990245-49990245
25	DLX3	NM_005220.3(DLX3):c.*1205A>C	SNV	Uncertain significance	324007	rs886053129	17:48067676-48067676	17:49990312-49990312
26	DLX3	NM_005220.3(DLX3):c.*821C>A	SNV	Uncertain significance	324014	rs886053131	17:48068060-48068060	17:49990696-49990696
27	DLX3	NM_005220.3(DLX3):c.-131C>G	SNV	Uncertain significance	324029	rs543871008	17:48072493-48072493	17:49995129-49995129
28	DLX3	NM_005220.3(DLX3):c.-135C>T	SNV	Uncertain significance	324033	rs532523216	17:48072497-48072497	17:49995133-49995133
29	DLX3	NM_005220.3(DLX3):c.-225G>A	SNV	Uncertain significance	324036	rs546133632	17:48072587-48072587	17:49995223-49995223
30	DLX3	NM_005220.3(DLX3):c.*714C>T	SNV	Uncertain significance	324015	rs886053132	17:48068167-48068167	17:49990803-49990803
31	DLX3	NM_005220.3(DLX3):c.-132C>A	SNV	Uncertain significance	324031	rs150591955	17:48072494-48072494	17:49995130-49995130
32	DLX3	NM_005220.3(DLX3):c.*1252C>G	SNV	Uncertain significance	324004	rs3803879	17:48067629-48067629	17:49990265-49990265
33	DLX3	NM_005220.3(DLX3):c.*988G>A	SNV	Uncertain significance	324011	rs555823151	17:48067893-48067893	17:49990529-49990529
34	DLX3	NM_005220.3(DLX3):c.*124C>A	SNV	Uncertain significance	324018	rs886053133	17:48068757-48068757	17:49991393-49991393
35	DLX3	NM_005220.3(DLX3):c.798G>A (p.Pro266=)	SNV	Uncertain significance	324021	rs569475772	17:48068947-48068947	17:49991583-49991583
36	DLX3	NM_005220.3(DLX3):c.698C>T (p.Pro233Leu)	SNV	Uncertain significance	324022	rs146899668	17:48069047-48069047	17:49991683-49991683
37	DLX3	NM_005220.3(DLX3):c.-131C>A	SNV	Uncertain significance	324030	rs543871008	17:48072493-48072493	17:49995129-49995129
38	DLX3	NM_005220.3(DLX3):c.-190C>T	SNV	Uncertain significance	324035	rs886053136	17:48072552-48072552	17:49995188-49995188
39	DLX3	NM_005220.3(DLX3):c.-37C>G	SNV	Likely benign	324027	rs375929276	17:48072399-48072399	17:49995035-49995035
40	DLX3	NM_005220.3(DLX3):c.636A>G (p.Ser212=)	SNV	Likely benign	888963		17:48069109-48069109	17:49991745-49991745
41	DLX3	NM_005220.3(DLX3):c.*1328T>G	SNV	Likely benign	324000	rs568427405	17:48067553-48067553	17:49990189-49990189
42	DLX3	NM_005220.3(DLX3):c.832G>A (p.Gly278Arg)	SNV	Likely benign	196407	rs151180891	17:48068913-48068913	17:49991549-49991549
43	DLX3	NM_005220.3(DLX3):c.465G>A (p.Ala155=)	SNV	Likely benign	324024	rs534788536	17:48070815-48070815	17:49993451-49993451
44	DLX3	NM_005220.3(DLX3):c.*1016G>C	SNV	Benign	324010	rs74607282	17:48067865-48067865	17:49990501-49990501
45	DLX3	NM_005220.3(DLX3):c.*928A>G	SNV	Benign	324013	rs12452477	17:48067953-48067953	17:49990589-49990589
46	DLX3	NM_005220.3(DLX3):c.402G>A (p.Thr134=)	SNV	Benign	259676	rs2303466	17:48070878-48070878	17:49993514-49993514
47	DLX3	NM_005220.3(DLX3):c.138C>T (p.Pro46=)	SNV	Benign	259675	rs33937843	17:48072225-48072225	17:49994861-49994861
48	DLX3	NM_005220.3(DLX3):c.736G>C (p.Asp246His)	SNV	Benign	892358		17:48069009-48069009	17:49991645-49991645
49	DLX3	NM_005220.3(DLX3):c.*527G>A	SNV	Benign	891159		17:48068354-48068354	17:49990990-49990990
50	DLX3	NM_005220.3(DLX3):c.*60G>A	SNV	Benign	892356		17:48068821-48068821	17:49991457-49991457

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Expression for Amelogenesis Imperfecta, Type Iv

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Iv.

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Pathways for Amelogenesis Imperfecta, Type Iv

Pathways related to Amelogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Primary immunodeficiency ³⁶	10.2	RAG1 CD8A

Sources

GO Terms for Amelogenesis Imperfecta, Type Iv

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

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial inner membrane	GO:0005743	9.46	MT-CYB MT-CO1 MRPS5 COA3
2	integral component of mitochondrial inner membrane	GO:0031305	9.26	MT-CYB COA3
3	mitochondrial respiratory chain complex III	GO:0005750	8.96	MT-CYB MT-CO1
4	mitochondrial respiratory chain complex IV	GO:0005751	8.62	MT-CO1 COA3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	respiratory electron transport chain	GO:0022904	9.16	MT-CYB MT-CO1
2	response to copper ion	GO:0046688	8.96	MT-CYB MT-CO1
3	electron transport coupled proton transport	GO:0015990	8.62	MT-CYB MT-CO1

Sources

Sources for Amelogenesis Imperfecta, Type Iv

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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 NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Amelogenesis Imperfecta, Type Iv (AI4)

Aliases & Classifications for Amelogenesis Imperfecta, Type Iv

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iv:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Amelogenesis Imperfecta, Type Iv

Related Diseases for Amelogenesis Imperfecta, Type Iv

Diseases in the Amelogenesis Imperfecta family:

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

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

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iv

Human phenotypes related to Amelogenesis Imperfecta, Type Iv:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iv

Genetic Tests for Amelogenesis Imperfecta, Type Iv

Genetic tests related to Amelogenesis Imperfecta, Type Iv:

Anatomical Context for Amelogenesis Imperfecta, Type Iv

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Iv:

Publications for Amelogenesis Imperfecta, Type Iv

Articles related to Amelogenesis Imperfecta, Type Iv:

Genes for Amelogenesis Imperfecta, Type Iv

Genes related to Amelogenesis Imperfecta, Type Iv (1 elite genes):

Variations for Amelogenesis Imperfecta, Type Iv

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iv:

Expression for Amelogenesis Imperfecta, Type Iv

Pathways for Amelogenesis Imperfecta, Type Iv

Pathways related to Amelogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

GO Terms for Amelogenesis Imperfecta, Type Iv

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

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

Sources for Amelogenesis Imperfecta, Type Iv