MCID: AML020
MIFTS: 34

Amelogenesis Imperfecta, Type Iv

Categories: Genetic diseases, Oral diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Iv

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iv:

Name: Amelogenesis Imperfecta, Type Iv 54 24 29 69
Amelogenesis Imperfecta Type 4 12 56 14
Aihht 12 24 71
Ai4 12 24 71
Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism 24 13
Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type with Taurodontism 12 71
Hypomaturation-Hypoplastic Amelogenesis Imperfecta with Taurodontism 56
Amelogenesis Imperfecta 2 Hypocalcification Type 71
Amelogenesis Imperfecta Hypomineralization Type 71
Amelogenesis Imperfecta with Taurodontism 71
Amelogenesis Imperfecta Type Iv 71
Amelogenesis Imperfecta 4 71
Ait 71

Characteristics:

Orphanet epidemiological data:

56

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
amelogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare odontological diseases


External Ids:

OMIM 54 104510
Disease Ontology 12 DOID:0110053
ICD10 33 K00.5
Orphanet 56 ORPHA100034
UMLS via Orphanet 70 C0399373 C1863012
ICD10 via Orphanet 34 K00.5
MedGen 40 C1863012
MeSH 42 D000567
SNOMED-CT via HPO 65 263681008 51744007 78494001

Summaries for Amelogenesis Imperfecta, Type Iv

UniProtKB/Swiss-Prot : 71 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 amelogenesis imperfecta, type iiia and amelogenesis imperfecta, type iia1, and has symptoms including amelogenesis imperfecta and taurodontia. 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.

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

Description from OMIM: 104510

Related Diseases for Amelogenesis Imperfecta, Type Iv

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



Diseases related to Amelogenesis Imperfecta, Type Iv

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Iv

Symptoms via clinical synopsis from OMIM:

54

Teeth:
taurodontism
amelogenesis imperfecta, hypomaturation-hypoplasia type


Clinical features from OMIM:

104510

Human phenotypes related to Amelogenesis Imperfecta, Type Iv:

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

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iv

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Black Currant Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Long-Term Outcomes for Lumbar Spinal Stenosis Patients Treated With X STOP® Completed NCT00534092 Phase 4
2 Inspiratory Support Improves Preoxygenation in Healthy Subjects Completed NCT00922753
3 Pharmacodynamic Profile of 'Blackadder' Blackcurrant Juice Effects Upon the Monoamine Axis in Humans Completed NCT02962752

Search NIH Clinical Center for Amelogenesis Imperfecta, Type Iv

Genetic Tests for Amelogenesis Imperfecta, Type Iv

Genetic tests related to Amelogenesis Imperfecta, Type Iv:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type Iv 29 24 DLX3

Anatomical Context for Amelogenesis Imperfecta, Type Iv

Publications for Amelogenesis Imperfecta, Type Iv

Variations for Amelogenesis Imperfecta, Type Iv

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iv:

6
id 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

Expression for Amelogenesis Imperfecta, Type Iv

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

Pathways for Amelogenesis Imperfecta, Type Iv

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

id Super pathways Score Top Affiliating Genes
1 10.52 MT-CO1 MT-CYB

GO Terms for Amelogenesis Imperfecta, Type Iv

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

id 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 8.32 MT-CYB

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

id Name GO ID Score Top Affiliating Genes
1 response to nutrient GO:0007584 9.26 APOA1 MT-CYB
2 hydrogen ion transmembrane transport GO:1902600 9.16 MT-CO1 MT-CYB
3 animal organ regeneration GO:0031100 8.96 APOA1 MT-CYB
4 response to copper ion GO:0046688 8.62 MT-CO1 MT-CYB

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

id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 8.62 MT-CO1 MT-CYB

Sources for Amelogenesis Imperfecta, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....