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

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Aliases & Classifications for Amelogenesis Imperfecta, Type Iv

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iv:

Name: Amelogenesis Imperfecta, Type Iv ⁵⁸ ³⁰ ⁶ ⁴¹ ⁷⁴

Amelogenesis Imperfecta Type 4 ¹² ⁶⁰ ¹⁵

Aihht ⁵⁸ ¹² ⁷⁶

Ai4 ⁵⁸ ¹² ⁷⁶

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism ⁵⁸ ¹³

Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type with Taurodontism ¹² ⁷⁶

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism; Aihht ⁵⁸

Hypomaturation-Hypoplastic Amelogenesis Imperfecta with Taurodontism ⁶⁰

Amelogenesis Imperfecta Hypoplastic-Hypomaturation with Taurodontism ³⁸

Amelogenesis Imperfecta 2 Hypocalcification Type ⁷⁶

Amelogenesis Imperfecta Hypomineralization Type ⁷⁶

Amelogenesis Imperfecta with Taurodontism ⁷⁶

Amelogenesis Imperfecta Type Iv ⁷⁶

Amelogenesis Imperfecta 4 ⁷⁶

Ait ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

amelogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

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: ⁶⁰

Rare odontological diseases

External Ids:

Disease Ontology ¹² DOID:0110053

OMIM ⁵⁸ 104510

KEGG ³⁸ H00618

MeSH ⁴⁵ D000567

ICD10 ³⁴ K00.5

ICD10 via Orphanet ³⁵ K00.5

UMLS via Orphanet ⁷⁵ C0399373 C1863012

Orphanet ⁶⁰ ORPHA100034

MedGen ⁴³ C1863012

SNOMED-CT via HPO ⁷⁰ 263681008 51744007 78494001

UMLS ⁷⁴ C1863012

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Summaries for Amelogenesis Imperfecta, Type Iv

UniProtKB/Swiss-Prot : ⁷⁶ Amelogenesis imperfecta 4: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.

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 Cardiac muscle contraction. The drug Black Currant has been mentioned in the context of this disorder. Affiliated tissues include liver and t cells, 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.

Description from OMIM: 104510

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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 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 all 34)

#	Related Disease	Score	Top Affiliating Genes
1	trichodentoosseous syndrome	11.8
2	amelogenesis imperfecta, type iiia	11.7
3	amelogenesis imperfecta, hypomaturation type, iia2	11.5
4	amelogenesis imperfecta, hypomaturation type, iia1	11.5
5	epileptic encephalopathy, early infantile, 51	11.2
6	taurodontism	10.8
7	amelogenesis imperfecta	10.8
8	graves disease 1	10.3
9	dentin dysplasia	10.3
10	amelogenesis imperfecta hypomaturation type	10.3
11	hypoplastic amelogenesis imperfecta	10.3
12	autism	10.1
13	autism spectrum disorder	10.1
14	sparganosis	10.0	MT-CO1 MT-CYB
15	pediculus humanus capitis infestation	10.0	MT-CO1 MT-CYB
16	myasthenic syndrome, congenital, 10	10.0	MT-CO1 MT-CYB
17	leber optic atrophy	10.0	MT-CO1 MT-CYB
18	ventricular fibrillation, paroxysmal familial, 1	10.0
19	liver disease	10.0
20	alpha chain disease	10.0
21	colitis	10.0
22	periodontal disease	10.0
23	hyperthyroidism	10.0
24	fatty liver disease	10.0
25	mediastinal endodermal sinus tumors	10.0
26	pain - chronic	10.0
27	parasitic protozoa infectious disease	10.0	MT-CO1 MT-CYB
28	familial colorectal cancer	10.0	MT-CO1 MT-CYB
29	kearns-sayre syndrome	10.0	MT-CO1 MT-CYB
30	mitochondrial encephalomyopathy	9.9	MT-CO1 MT-CYB
31	mitochondrial myopathy	9.9	MT-CO1 MT-CYB
32	osteogenesis imperfecta, type i	9.9	DLX3 DLX4
33	lactic acidosis	9.8	MT-CO1 MT-CYB
34	leber hereditary optic neuropathy	9.7	MT-CO1 MT-CYB

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:

³³

#	Description	HPO Frequency	HPO Source Accession
1	taurodontia ³³		HP:0000679
2	amelogenesis imperfecta ³³		HP:0000705

Symptoms via clinical synopsis from OMIM:

⁵⁸

Teeth:
amelogenesis imperfecta, hypomaturation-hypoplasia type
taurodontism

Clinical features from OMIM:

104510

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Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iv

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

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Black Currant		Not Applicable

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
1	Inspiratory Support Improves Preoxygenation in Healthy Subjects	Completed	NCT00922753	Not Applicable
2	Pharmacodynamic Profile of 'Blackadder' Blackcurrant Juice Effects Upon the Monoamine Axis in Humans	Completed	NCT02962752	Not Applicable
3	Long-Term Outcomes for Lumbar Spinal Stenosis Patients Treated With X STOP®	Completed	NCT00534092

Search 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 ³⁰	DLX3

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Anatomical Context for Amelogenesis Imperfecta, Type Iv

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

⁴²

Liver, T Cells

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Publications for Amelogenesis Imperfecta, Type Iv

Articles related to Amelogenesis Imperfecta, Type Iv:

(show all 13)

#	Title	Authors	Year
1	Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. ( 24992867 )	Hegde V...Srikanth K	2014
2	DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. ( 18203197 )	Wright JT...Luder HU	2008
3	Severely hypoplastic amelogenesis imperfecta with taurodontism. ( 17559453 )	Pavlic A...Alaluusua S	2007
4	DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. ( 15666299 )	Dong J...MacDougall M	2005
5	Requirement for both H-2Db and H-2Kd for the induction of diabetes by the promiscuous CD8+ T cell clonotype AI4. ( 15294969 )	Takaki T...DiLorenzo TP	2004
6	Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism. ( 11936459 )	Aldred MJ...Crawford PJ	2002
7	Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. ( 10466415 )	Price JA...Hart TC	1999
8	Maturase and endonuclease functions depend on separate conserved domains of the bifunctional protein encoded by the group I intron aI4 alpha of yeast mitochondrial DNA. ( 7588637 )	Henke RM...Perlman PS	1995
9	Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? ( 2387085 )	Crawford PJ...Aldred MJ	1990
10	Variable expression in Amelogenesis imperfecta with taurodontism. ( 3145966 )	Aldred MJ...Crawford PJ	1988
11	Differential diagnosis of enlarged dental pulp chambers: a case report of amelogenesis imperfecta with taurodontism. ( 3463586 )	Elzay RP...Chamberlain DH	1986
12	Amelogenesis imperfecta with taurodontism. ( 292959 )	Congleton J...Burkes EJ	1979
13	Hypoplastic-hypomaturation amelogenesis imperfecta with taurodontism: report of case. ( 1100695 )	Parker JL...Thomas JP	1975

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Genes for Amelogenesis Imperfecta, Type Iv

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DLX3	Distal-Less Homeobox 3	Protein Coding	1375.57	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	15666299 18203197
2	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	16.44	DISEASES inferred ¹⁵
3	MT-CYB	Mitochondrially Encoded Cytochrome B	Protein Coding	16.19	DISEASES inferred ¹⁵
4	APOA1	Apolipoprotein A1	Protein Coding	15.5	DISEASES inferred ¹⁵
5	DLX4	Distal-Less Homeobox 4	Protein Coding	15.07	DISEASES inferred ¹⁵
6	G6PC2	Glucose-6-Phosphatase Catalytic Subunit 2	Protein Coding	14.72	DISEASES inferred ¹⁵

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Variations for Amelogenesis Imperfecta, Type Iv

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iv:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DLX3	NM_005220.2(DLX3): c.476G> T (p.Arg159Leu)	single nucleotide variant	Pathogenic	rs1555617226	GRCh37	Chromosome 17, 48070804: 48070804
2	DLX3	NM_005220.2(DLX3): c.476G> T (p.Arg159Leu)	single nucleotide variant	Pathogenic	rs1555617226	GRCh38	Chromosome 17, 49993440: 49993440
3	DLX3	NM_005220.2(DLX3): c.574delG (p.Glu192Argfs)	deletion	Pathogenic	rs1057518764	GRCh37	Chromosome 17, 48069171: 48069171
4	DLX3	NM_005220.2(DLX3): c.574delG (p.Glu192Argfs)	deletion	Pathogenic	rs1057518764	GRCh38	Chromosome 17, 49991807: 49991807
5	DLX3	NM_005220.2(DLX3): c.561_562delCT (p.Tyr188Glnfs)	deletion	Pathogenic	rs387906406	GRCh38	Chromosome 17, 49991819: 49991820
6	DLX3	NM_005220.2(DLX3): c.561_562delCT (p.Tyr188Glnfs)	deletion	Pathogenic	rs387906406	GRCh37	Chromosome 17, 48069183: 48069184

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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	Cardiac muscle contraction ³⁸	10.52	MT-CO1 MT-CYB

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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	respiratory chain	GO:0070469	8.96	MT-CO1 MT-CYB
2	mitochondrial respiratory chain complex III	GO:0005750	8.62	MT-CO1 MT-CYB

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

#	Name	GO ID	Score	Top Affiliating Genes
1	response to nutrient	GO:0007584	9.26	APOA1 MT-CYB
2	animal organ regeneration	GO:0031100	9.16	APOA1 MT-CYB
3	response to copper ion	GO:0046688	8.96	MT-CO1 MT-CYB
4	electron transport coupled proton transport	GO:0015990	8.62	MT-CO1 MT-CYB

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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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

Interventional clinical trials:

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