MCID: AML020
MIFTS: 37

Amelogenesis Imperfecta, Type Iv

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

Aliases & Classifications for Amelogenesis Imperfecta, Type Iv

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Iv:

Name: Amelogenesis Imperfecta, Type Iv 53 28 69
Amelogenesis Imperfecta Type 4 12 55 14
Aihht 53 12 71
Ai4 53 12 71
Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism 53 13
Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type with Taurodontism 12 71
Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism; Aihht 53
Hypomaturation-Hypoplastic Amelogenesis Imperfecta with Taurodontism 55
Amelogenesis Imperfecta Hypoplastic-Hypomaturation with Taurodontism 36
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:

55

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
amelogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare odontological diseases


External Ids:

OMIM 53 104510
Disease Ontology 12 DOID:0110053
ICD10 32 K00.5
Orphanet 55 ORPHA100034
UMLS via Orphanet 70 C0399373 C1863012
ICD10 via Orphanet 33 K00.5
MedGen 39 C1863012
MeSH 41 D000567
KEGG 36 H00618
SNOMED-CT via HPO 65 263681008 51744007 78494001
UMLS 69 C1863012

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, hypomaturation type, iia1, and has symptoms including taurodontia and amelogenesis imperfecta. 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

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 24)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iiia 11.5
2 amelogenesis imperfecta, hypomaturation type, iia1 11.3
3 amelogenesis imperfecta, hypomaturation type, iia2 11.3
4 epileptic encephalopathy, early infantile, 51 11.0
5 taurodontism 10.6
6 amelogenesis imperfecta 10.6
7 graves disease 1 10.2
8 trichodentoosseous syndrome 10.1
9 dentin dysplasia 10.1
10 hypoplastic amelogenesis imperfecta 10.1
11 sparganosis 10.1 MT-CO1 MT-CYB
12 lice infestation 10.1 MT-CO1 MT-CYB
13 taeniasis 10.1 MT-CO1 MT-CYB
14 myasthenic syndrome, congenital, 10 10.1 MT-CO1 MT-CYB
15 familial colorectal cancer 10.0 MT-CO1 MT-CYB
16 osteogenesis imperfecta, type i 10.0 DLX3 DLX4
17 parasitic protozoa infectious disease 9.9 MT-CO1 MT-CYB
18 mitochondrial encephalomyopathy 9.9 MT-CO1 MT-CYB
19 episodic pain syndrome, familial, 1 9.9
20 thyroiditis 9.9
21 hyperthyroidism 9.9
22 chronic pain 9.9
23 ring chromosome y syndrome 9.9
24 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

Symptoms via clinical synopsis from OMIM:

53
Teeth:
amelogenesis imperfecta, hypomaturation-hypoplasia type
taurodontism


Clinical features from OMIM:

104510

Human phenotypes related to Amelogenesis Imperfecta, Type Iv:

31
# Description HPO Frequency HPO Source Accession
1 taurodontia 31 HP:0000679
2 amelogenesis imperfecta 31 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inspiratory Support Improves Preoxygenation in Healthy Subjects Completed NCT00922753
2 Pharmacodynamic Profile of 'Blackadder' Blackcurrant Juice Effects Upon the Monoamine Axis in Humans Completed NCT02962752
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 28 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

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 hydrogen ion transmembrane transport GO:1902600 9.26 MT-CO1 MT-CYB
2 response to nutrient GO:0007584 9.16 APOA1 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:

# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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