AI4
MCID: AML020
MIFTS: 37

Amelogenesis Imperfecta, Type Iv (AI4)

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

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

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
amelogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance


Classifications:

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

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. 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

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 35)
# 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 dentin dysplasia 10.3
9 amelogenesis imperfecta hypomaturation type 10.3
10 hypoplastic amelogenesis imperfecta 10.3
11 sparganosis 10.0 MT-CYB MT-CO1
12 pediculus humanus capitis infestation 10.0 MT-CYB MT-CO1
13 myasthenic syndrome, congenital, 10 10.0 MT-CO1 MT-CYB
14 leber optic atrophy 10.0 MT-CO1 MT-CYB
15 parasitic protozoa infectious disease 10.0 MT-CO1 MT-CYB
16 multiple sclerosis 10.0
17 autism 10.0
18 graves disease 1 10.0
19 ventricular fibrillation, paroxysmal familial, 1 10.0
20 liver disease 10.0
21 autism spectrum disorder 10.0
22 alpha chain disease 10.0
23 colitis 10.0
24 periodontal disease 10.0
25 hyperthyroidism 10.0
26 fatty liver disease 10.0
27 mediastinal endodermal sinus tumors 10.0
28 pain - chronic 10.0
29 familial colorectal cancer 10.0 MT-CO1 MT-CYB
30 kearns-sayre syndrome 9.9 MT-CO1 MT-CYB
31 mitochondrial encephalomyopathy 9.9 MT-CO1 MT-CYB
32 mitochondrial myopathy 9.9 MT-CO1 MT-CYB
33 osteogenesis imperfecta, type i 9.9 DLX3 DLX4
34 lactic acidosis 9.8 MT-CO1 MT-CYB
35 leber hereditary optic neuropathy 9.7 MT-CO1 MT-CYB

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

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

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 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 30 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
10
Hypoplastic-hypomaturation amelogenesis imperfecta with taurodontism: report of case. ( 1100695 )
1975

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

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 9.26 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

Sources for Amelogenesis Imperfecta, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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