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 56 29 6 39 71
Amelogenesis Imperfecta Type 4 12 58 15
Aihht 56 12 73
Ai4 56 12 73
Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism 56 13
Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type with Taurodontism 12 73
Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism; Aihht 56
Hypomaturation-Hypoplastic Amelogenesis Imperfecta with Taurodontism 58
Amelogenesis Imperfecta Hypoplastic-Hypomaturation with Taurodontism 36
Amelogenesis Imperfecta 2 Hypocalcification Type 73
Amelogenesis Imperfecta Hypomineralization Type 73
Amelogenesis Imperfecta with Taurodontism 73
Amelogenesis Imperfecta Type Iv 73
Amelogenesis Imperfecta 4 73
Ait 73

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
amelogenesis imperfecta, type iv:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0110053
OMIM 56 104510
OMIM Phenotypic Series 56 PS104500
KEGG 36 H00618
MeSH 43 D000567
ICD10 32 K00.5
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 72 C0399373 C1863012
Orphanet 58 ORPHA100034
MedGen 41 C1863012
SNOMED-CT via HPO 68 263681008 51744007 78494001
UMLS 71 C1863012

Summaries for Amelogenesis Imperfecta, Type Iv

KEGG : 36 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 amelogenesis imperfecta, type iiia 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 Primary immunodeficiency. 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 : 73 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 99)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iiia 32.3 TMBIM6 SUPV3L1 AMTN
2 amelogenesis imperfecta 30.7 TUFT1 DLX3 AMTN
3 trichodentoosseous syndrome 11.9
4 amelogenesis imperfecta, hypomaturation type, iia2 11.6
5 amelogenesis imperfecta, hypomaturation type, iia1 11.6
6 epileptic encephalopathy, early infantile, 51 11.3
7 taurodontism 10.8
8 hypoplastic amelogenesis imperfecta 10.5
9 dentin dysplasia 10.3
10 amelogenesis imperfecta hypomaturation type 10.3
11 hantavirus pulmonary syndrome 10.3 MT-CYB CD8A
12 mucocutaneous leishmaniasis 10.3 MT-CYB CD8A
13 graves disease 1 10.3
14 pediculus humanus capitis infestation 10.3 MT-CYB MT-CO1
15 immunodeficiency with hyper-igm, type 3 10.3 RAG1 CD8A
16 sparganosis 10.3 MT-CYB MT-CO1
17 myiasis 10.3 MT-CYB MT-CO1
18 mitochondrial myopathy, infantile, transient 10.3 MT-CYB MT-CO1
19 angiostrongyliasis 10.3 MT-CYB MT-CO1
20 pediculus humanus corporis infestation 10.3 MT-CYB MT-CO1
21 pneumocystosis 10.2 MT-CYB CD8A
22 allergic rhinitis 10.2
23 rhinitis 10.2
24 rapidly involuting congenital hemangioma 10.2
25 babesiosis 10.2 MT-CYB MT-CO1
26 brachydactyly, type c 10.2 G6PC2 CD8A
27 t cell deficiency 10.2 RAG1 CD8A
28 hair whorl 10.2
29 hepatocellular carcinoma 10.2
30 hyperthyroidism 10.2
31 allergic asthma 10.2
32 taeniasis 10.2 MT-CO1 CD8A
33 myasthenic syndrome, congenital, 10 10.2 MT-CYB MT-CO1
34 lice infestation 10.1 MT-CYB MT-CO1
35 alveolar echinococcosis 10.1 MT-CO1 CD8A
36 echinococcosis 10.1 MT-CO1 CD8A
37 bronchopneumonia 10.1 CD8A CBWD3 CBWD1
38 autism spectrum disorder 10.1
39 pollen allergy 10.1
40 dysentery 10.1
41 hypothyroidism 10.1
42 asthma 10.1
43 autism 10.1
44 lipid metabolism disorder 10.1
45 familial colorectal cancer 10.0 MT-CYB MT-CO1
46 parasitic protozoa infectious disease 10.0 MT-CYB MT-CO1 CD8A
47 parasitic ectoparasitic infectious disease 10.0 MT-CYB MT-CO1
48 splenic disease 10.0 MT-CYB CD8A
49 autoimmune lymphoproliferative syndrome 10.0 MT-CYB MT-CO1 CD8A
50 asthma-related traits 4 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:

31
# Description HPO Frequency HPO Source Accession
1 taurodontia 31 HP:0000679
2 amelogenesis imperfecta 31 HP:0000705

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 61 56 6
15666299 2005
2
DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. 56 6
18203197 2008
3
Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. 61 56
10466415 1999
4
Analysis of the tricho-dento-osseous syndrome genotype and phenotype. 56
9382143 1997
5
Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta. 56
8375104 1993
6
Amelogenesis imperfecta with taurodontism and the tricho-dento-osseous syndrome: separate conditions or a spectrum of disease? 56
2387085 1990
7
Amelogenesis imperfecta: autosomal dominant hypomaturation-hypoplasia type with taurodontism. 56
3422811 1988
8
Amelogenesis imperfecta with taurodontism. 56
292959 1979
9
DLX3 mutation in a new family and its phenotypic variations. 61
18362318 2008
10
Severely hypoplastic amelogenesis imperfecta with taurodontism. 61
17559453 2007

Variations for Amelogenesis Imperfecta, Type Iv

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Iv:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DLX3 NM_005220.3(DLX3):c.476G>T (p.Arg159Leu)SNV Pathogenic 430609 rs1555617226 17:48070804-48070804 17:49993440-49993440
2 DLX3 NM_005220.3(DLX3):c.574del (p.Glu192fs)deletion Pathogenic 430607 rs1057518764 17:48069171-48069171 17:49991807-49991807
3 DLX3 NM_005220.3(DLX3):c.559_560CT[1] (p.Tyr188fs)short repeat Pathogenic 9073 rs387906406 17:48069183-48069184 17:49991819-49991820

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 10.2 RAG1 CD8A

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 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 biomineral tissue development GO:0031214 9.16 TUFT1 AMTN
2 response to copper ion GO:0046688 8.96 MT-CYB MT-CO1
3 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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