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 ⁵⁷ ²⁹ ⁶ ⁴⁰ ⁷³

Amelogenesis Imperfecta Type 4 ¹² ⁵⁹ ¹⁵

Aihht ⁵⁷ ¹² ⁷⁵

Ai4 ⁵⁷ ¹² ⁷⁵

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism ⁵⁷ ¹³

Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type with Taurodontism ¹² ⁷⁵

Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism; Aihht ⁵⁷

Hypomaturation-Hypoplastic Amelogenesis Imperfecta with Taurodontism ⁵⁹

Amelogenesis Imperfecta Hypoplastic-Hypomaturation with Taurodontism ³⁷

Amelogenesis Imperfecta 2 Hypocalcification Type ⁷⁵

Amelogenesis Imperfecta Hypomineralization Type ⁷⁵

Amelogenesis Imperfecta with Taurodontism ⁷⁵

Amelogenesis Imperfecta Type Iv ⁷⁵

Amelogenesis Imperfecta 4 ⁷⁵

Ait ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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: ³³ ³⁴

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: ⁵⁹

Rare odontological diseases

External Ids:

OMIM ⁵⁷ 104510

Disease Ontology ¹² DOID:0110053

ICD10 ³³ K00.5

Orphanet ⁵⁹ ORPHA100034

UMLS via Orphanet ⁷⁴ C1863012 C0399373

ICD10 via Orphanet ³⁴ K00.5

MedGen ⁴² C1863012

MeSH ⁴⁴ D000567

KEGG ³⁷ H00618

SNOMED-CT via HPO ⁶⁹ 263681008 51744007 78494001

UMLS ⁷³ C1863012

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Summaries for Amelogenesis Imperfecta, Type Iv

UniProtKB/Swiss-Prot : ⁷⁵ 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. Related phenotypes are taurodontia and amelogenesis imperfecta

Disease Ontology : ¹² An amelogenesis imperfecta which can have 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 2a1

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

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	trichodentoosseous syndrome	11.6
2	amelogenesis imperfecta, type iiia	11.5
3	amelogenesis imperfecta, hypomaturation type, iia1	11.3
4	amelogenesis imperfecta, hypomaturation type, iia2	11.3
5	epileptic encephalopathy, early infantile, 51	11.0
6	taurodontism	10.6
7	amelogenesis imperfecta	10.6
8	sparganosis	10.2	MT-CO1 MT-CYB
9	myasthenic syndrome, congenital, 10	10.2	MT-CO1 MT-CYB
10	leber optic atrophy	10.2	MT-CO1 MT-CYB
11	familial colorectal cancer	10.1	MT-CO1 MT-CYB
12	parasitic protozoa infectious disease	10.1	MT-CO1 MT-CYB
13	osteogenesis imperfecta, type i	10.0	DLX3 DLX4
14	kearns-sayre syndrome	10.0	MT-CO1 MT-CYB
15	thyroiditis	9.9
16	hyperthyroidism	9.9
17	chronic pain	9.9
18	mitochondrial encephalomyopathy	9.9	MT-CO1 MT-CYB
19	mitochondrial myopathy	9.8	MT-CO1 MT-CYB
20	leber hereditary optic neuropathy	9.6	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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Teeth:
amelogenesis imperfecta, hypomaturation-hypoplasia type
taurodontism

Clinical features from OMIM:

104510

Human phenotypes related to Amelogenesis Imperfecta, Type Iv:

³²

#	Description	HPO Frequency	HPO Source Accession
1	taurodontia ³²		HP:0000679
2	amelogenesis imperfecta ³²		HP:0000705

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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	Nutraceutical	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 ²⁹	DLX3

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Anatomical Context for Amelogenesis Imperfecta, Type Iv

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Publications for Amelogenesis Imperfecta, Type Iv

Articles related to Amelogenesis Imperfecta, Type Iv:

#	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	Severely hypoplastic amelogenesis imperfecta with taurodontism. ( 17559453 )	Pavlic A....Alaluusua S.	2007
3	DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. ( 15666299 )	Dong J....MacDougall M.	2005
4	Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism. ( 11936459 )	Aldred M.J....Crawford P.J.	2002
5	Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. ( 10466415 )	Price J.A....Hart T.C.	1999
6	Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? ( 2387085 )	Crawford P.J....Aldred M.J.	1990
7	Variable expression in Amelogenesis imperfecta with taurodontism. ( 3145966 )	Aldred M.J....Crawford P.J.	1988
8	Differential diagnosis of enlarged dental pulp chambers: a case report of amelogenesis imperfecta with taurodontism. ( 3463586 )	Elzay R.P....Chamberlain D.H.	1986
9	Amelogenesis imperfecta with taurodontism. ( 292959 )	Congleton J....Burkes E.J.	1979

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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	1374.96	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	15666299 18203197
2	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	16.72	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	MT-CYB	Mitochondrially Encoded Cytochrome B	Protein Coding	16.29	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	DLX4	Distal-Less Homeobox 4	Protein Coding	15.3	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	APOA1	Apolipoprotein A1	Protein Coding	14.97	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	G6PC2	Glucose-6-Phosphatase Catalytic Subunit 2	Protein Coding	14.75	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	LY75	Lymphocyte Antigen 75	Protein Coding	14.74	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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.561_562delCT (p.Tyr188Glnfs)	deletion	Pathogenic	rs387906406	GRCh37	Chromosome 17, 48069183: 48069184
2	DLX3	NM_005220.2(DLX3): c.561_562delCT (p.Tyr188Glnfs)	deletion	Pathogenic	rs387906406	GRCh38	Chromosome 17, 49991819: 49991820
3	DLX3	NM_005220.2(DLX3): c.574delG (p.Glu192Argfs)	deletion	Pathogenic		GRCh37	Chromosome 17, 48069171: 48069171
4	DLX3	NM_005220.2(DLX3): c.574delG (p.Glu192Argfs)	deletion	Pathogenic		GRCh38	Chromosome 17, 49991807: 49991807
5	DLX3	NM_005220.2(DLX3): c.476G> T (p.Arg159Leu)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 17, 49993440: 49993440
6	DLX3	NM_005220.2(DLX3): c.476G> T (p.Arg159Leu)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 17, 48070804: 48070804

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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 ³⁷	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	9.32	APOA1 MT-CYB
2	animal organ regeneration	GO:0031100	9.26	APOA1 MT-CYB
3	respiratory electron transport chain	GO:0022904	9.16	MT-CO1 MT-CYB
4	response to copper ion	GO:0046688	8.96	MT-CO1 MT-CYB
5	electron transport coupled proton transport	GO:0015990	8.62	MT-CO1 MT-CYB

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

#	Name	GO ID	Score	Top Affiliating Genes
1	electron transfer activity	GO:0009055	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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Amelogenesis Imperfecta, Type Iv:

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

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:

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

Sources for Amelogenesis Imperfecta, Type Iv