AI4
MCID: AML020
MIFTS: 36

Amelogenesis Imperfecta, Type Iv (AI4)

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 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

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
amelogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance


Classifications:

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

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

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:

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

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 Drugs
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

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

Anatomical Context for Amelogenesis Imperfecta, Type Iv

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 )
2014
2
Severely hypoplastic amelogenesis imperfecta with taurodontism. ( 17559453 )
2007
3
DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. ( 15666299 )
2005
4
Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism. ( 11936459 )
2002
5
Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. ( 10466415 )
1999
6
Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? ( 2387085 )
1990
7
Variable expression in Amelogenesis imperfecta with taurodontism. ( 3145966 )
1988
8
Differential diagnosis of enlarged dental pulp chambers: a case report of amelogenesis imperfecta with taurodontism. ( 3463586 )
1986
9
Amelogenesis imperfecta with taurodontism. ( 292959 )
1979

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

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:

# 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:

# 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

Sources for Amelogenesis Imperfecta, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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