AI4
MCID: AML020
MIFTS: 35

Amelogenesis Imperfecta, Type Iv (AI4)

Categories: Fetal diseases, 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 57 29 6 40 72
Amelogenesis Imperfecta Type 4 12 59 15
Aihht 57 12 74
Ai4 57 12 74
Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism 57 13
Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type with Taurodontism 12 74
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 74
Amelogenesis Imperfecta Hypomineralization Type 74
Amelogenesis Imperfecta with Taurodontism 74
Amelogenesis Imperfecta Type Iv 74
Amelogenesis Imperfecta 4 74
Ait 74

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:

Disease Ontology 12 DOID:0110053
KEGG 37 H00618
MeSH 44 D000567
ICD10 33 K00.5
ICD10 via Orphanet 34 K00.5
UMLS via Orphanet 73 C0399373 C1863012
Orphanet 59 ORPHA100034
MedGen 42 C1863012
UMLS 72 C1863012

Summaries for Amelogenesis Imperfecta, Type Iv

KEGG : 37
Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) is a condition characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia, AIHHT patients do not show hair and bone abnormalities. AIHHT is an autosomal dominant trait.

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. Affiliated tissues include bone and salivary gland, and related phenotypes are taurodontia and amelogenesis imperfecta

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

UniProtKB/Swiss-Prot : 74 Amelogenesis imperfecta 4: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.

More information from OMIM: 104510 PS104500

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 Ij
Amelogenesis Imperfecta, Type Iiib Amelogenesis Imperfecta, Type Iiic
Amelogenesis Imperfecta Type 2a1

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 trichodentoosseous syndrome 11.9
2 amelogenesis imperfecta, type iiia 11.8
3 amelogenesis imperfecta, hypomaturation type, iia2 11.6
4 amelogenesis imperfecta, hypomaturation type, iia1 11.6
5 epileptic encephalopathy, early infantile, 51 11.3
6 taurodontism 10.8
7 amelogenesis imperfecta 10.8
8 hypoplastic amelogenesis imperfecta 10.5
9 dentin dysplasia 10.3
10 amelogenesis imperfecta hypomaturation type 10.3
11 graves disease 1 10.3
12 rapidly involuting congenital hemangioma 10.2
13 hair whorl 10.2
14 allergic rhinitis 10.2
15 rhinitis 10.2
16 hyperthyroidism 10.2
17 allergic asthma 10.2
18 hepatocellular carcinoma 10.1
19 autism 10.1
20 autism spectrum disorder 10.1
21 pollen allergy 10.1
22 dysentery 10.1
23 hypothyroidism 10.1
24 sparganosis 10.1 MT-CYB MT-CO1
25 pediculus humanus capitis infestation 10.0 MT-CYB MT-CO1
26 osteogenesis imperfecta, type i 10.0 DLX4 DLX3
27 myasthenic syndrome, congenital, 10 10.0 MT-CYB MT-CO1
28 leber optic atrophy 10.0 MT-CYB MT-CO1
29 parasitic protozoa infectious disease 10.0 MT-CYB MT-CO1
30 colorectal cancer 9.9
31 hypercholesterolemia, familial, 1 9.9
32 panencephalitis, subacute sclerosing 9.9
33 asthma 9.9
34 ventricular fibrillation, paroxysmal familial, 1 9.9
35 hepatitis c virus 9.9
36 microvascular complications of diabetes 5 9.9
37 hydrops, lactic acidosis, and sideroblastic anemia 9.9
38 exanthem 9.9
39 multinodular goiter 9.9
40 pervasive developmental disorder 9.9
41 alpha chain disease 9.9
42 ptosis 9.9
43 cerebral artery occlusion 9.9
44 mumps 9.9
45 borderline personality disorder 9.9
46 listeriosis 9.9
47 fungal meningitis 9.9
48 goiter 9.9
49 avoidant personality disorder 9.9
50 personality disorder 9.9

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:

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

Symptoms via clinical synopsis from OMIM:

57
Teeth:
amelogenesis imperfecta, hypomaturation-hypoplasia type
taurodontism

Clinical features from OMIM:

104510

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iv

Search Clinical Trials , 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

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Iv:

41
Bone, Salivary Gland

Publications for Amelogenesis Imperfecta, Type Iv

Articles related to Amelogenesis Imperfecta, Type Iv:

# Title Authors PMID Year
1
DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. 38 8 71
15666299 2005
2
DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. 8 71
18203197 2008
3
Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. 38 8
10466415 1999
4
Analysis of the tricho-dento-osseous syndrome genotype and phenotype. 8
9382143 1997
5
Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. 8
8375104 1993
6
Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? 8
2387085 1990
7
Amelogenesis imperfecta: autosomal dominant hypomaturation-hypoplasia type with taurodontism. 8
3422811 1988
8
Amelogenesis imperfecta with taurodontism. 8
292959 1979
9
DLX3 mutation in a new family and its phenotypic variations. 38
18362318 2008
10
Severely hypoplastic amelogenesis imperfecta with taurodontism. 38
17559453 2007

Variations for Amelogenesis Imperfecta, Type Iv

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iv:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DLX3 NM_005220.3(DLX3): c.559_560CT[1] (p.Tyr188fs) short repeat Pathogenic rs387906406 17:48069183-48069184 17:49991819-49991820
2 DLX3 NM_005220.3(DLX3): c.476G> T (p.Arg159Leu) single nucleotide variant Pathogenic rs1555617226 17:48070804-48070804 17:49993440-49993440
3 DLX3 NM_005220.3(DLX3): c.574del (p.Glu192fs) deletion Pathogenic rs1057518764 17:48069171-48069171 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 10.56 MT-CYB MT-CO1

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-CYB MT-CO1
2 mitochondrial respiratory chain complex III GO:0005750 8.62 MT-CYB MT-CO1

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 MT-CYB APOA1
2 animal organ regeneration GO:0031100 9.16 MT-CYB APOA1
3 response to copper ion GO:0046688 8.96 MT-CYB MT-CO1
4 electron transport coupled proton transport GO:0015990 8.62 MT-CYB MT-CO1

Sources for Amelogenesis Imperfecta, Type Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....