AI4
MCID: AML020
MIFTS: 39

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 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 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 97)
# Related Disease Score Top Affiliating Genes
1 trichodentoosseous syndrome 11.9
2 amelogenesis imperfecta, type iiia 11.9
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 10.3
13 pediculus humanus capitis infestation 10.3 MT-CYB MT-CO1
14 mucocutaneous leishmaniasis 10.2 MT-CYB CD8A
15 oesophagostomiasis 10.2 MT-CYB MT-CO1
16 sparganosis 10.2 MT-CYB MT-CO1
17 mitochondrial myopathy, infantile, transient 10.2 MT-CYB MT-CO1
18 myiasis 10.2 MT-CYB MT-CO1
19 chronic meningitis 10.2 MT-CO1 ADCY4
20 thelaziasis 10.2 MT-CYB MT-CO1
21 pneumocystosis 10.2 MT-CYB CD8A
22 hepatocellular carcinoma 10.2
23 hair whorl 10.2
24 allergic rhinitis 10.2
25 dysentery 10.2
26 rhinitis 10.2
27 hyperthyroidism 10.2
28 allergic asthma 10.2
29 babesiosis 10.2 MT-CYB MT-CO1
30 alveolar echinococcosis 10.2 MT-CO1 CD8A
31 t cell deficiency 10.2 RAG1 CD8A
32 echinococcosis 10.2 MT-CO1 CD8A
33 myasthenic syndrome, congenital, 10 10.1 MT-CYB MT-CO1
34 brachydactyly, type c 10.1 G6PC2 CD8A
35 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1 10.1 MT-CYB CD8A
36 pthirus pubis infestation 10.1 MT-CYB MT-CO1
37 lice infestation 10.1 MT-CYB MT-CO1
38 autism 10.1
39 asthma 10.1
40 autism spectrum disorder 10.1
41 pollen allergy 10.1
42 dermatitis 10.1
43 lipid metabolism disorder 10.1
44 taeniasis 10.0 MT-CYB MT-CO1 CD8A
45 parasitic ectoparasitic infectious disease 10.0 MT-CYB MT-CO1
46 parasitic protozoa infectious disease 10.0 MT-CYB MT-CO1 CD8A
47 optic nerve disease 10.0 MT-CYB MT-CO1 CD8A
48 endometrial stromal tumor 10.0 MT-CYB MT-CO1
49 colorectal cancer 10.0
50 hypercholesterolemia, familial, 1 10.0

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 6 56
15666299 2005
2
DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. 6 56
18203197 2008
3
Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions. 56 61
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 (show top 50) (show all 67) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DLX3 NM_005220.3(DLX3):c.574del (p.Glu192fs)deletion Pathogenic 430607 rs1057518764 17:48069171-48069171 17:49991807-49991807
2 DLX3 NM_005220.3(DLX3):c.476G>T (p.Arg159Leu)SNV Pathogenic 430609 rs1555617226 17:48070804-48070804 17:49993440-49993440
3 DLX3 NM_005220.3(DLX3):c.559_560CT[1] (p.Tyr188fs)short repeat Pathogenic 9073 rs387906406 17:48069183-48069184 17:49991819-49991820
4 DLX3 NM_005220.3(DLX3):c.90T>C (p.Pro30=)SNV Conflicting interpretations of pathogenicity 193301 rs145424773 17:48072273-48072273 17:49994909-49994909
5 DLX3 NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys)SNV Conflicting interpretations of pathogenicity 289857 rs142563930 17:48069035-48069035 17:49991671-49991671
6 DLX3 NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr)SNV Conflicting interpretations of pathogenicity 290750 rs147702169 17:48072281-48072281 17:49994917-49994917
7 DLX3 NM_005220.3(DLX3):c.*1505G>ASNV Uncertain significance 323999 rs768920190 17:48067376-48067376 17:49990012-49990012
8 DLX3 NM_005220.3(DLX3):c.-62C>ASNV Uncertain significance 889646 17:48072424-48072424 17:49995060-49995060
9 DLX3 NM_005220.3(DLX3):c.-121C>TSNV Uncertain significance 889647 17:48072483-48072483 17:49995119-49995119
10 DLX3 NM_005220.3(DLX3):c.326-15G>TSNV Uncertain significance 888964 17:48070969-48070969 17:49993605-49993605
11 DLX3 NM_005220.3(DLX3):c.*83G>ASNV Uncertain significance 324019 rs886053134 17:48068798-48068798 17:49991434-49991434
12 DLX3 NM_005220.3(DLX3):c.846C>A (p.Asn282Lys)SNV Uncertain significance 324020 rs886053135 17:48068899-48068899 17:49991535-49991535
13 DLX3 NM_005220.3(DLX3):c.*548C>TSNV Uncertain significance 890607 17:48068333-48068333 17:49990969-49990969
14 DLX3 NM_005220.3(DLX3):c.746A>C (p.Asn249Thr)SNV Uncertain significance 892357 17:48068999-48068999 17:49991635-49991635
15 DLX3 NM_005220.3(DLX3):c.*1408G>ASNV Uncertain significance 891092 17:48067473-48067473 17:49990109-49990109
16 DLX3 NM_005220.3(DLX3):c.*1164A>GSNV Uncertain significance 892305 17:48067717-48067717 17:49990353-49990353
17 DLX3 NM_005220.3(DLX3):c.*1025G>TSNV Uncertain significance 888907 17:48067856-48067856 17:49990492-49990492
18 DLX3 NM_005220.3(DLX3):c.*812G>ASNV Uncertain significance 890602 17:48068069-48068069 17:49990705-49990705
19 DLX3 NM_005220.3(DLX3):c.*726T>CSNV Uncertain significance 890603 17:48068155-48068155 17:49990791-49990791
20 DLX3 NM_005220.3(DLX3):c.*437G>ASNV Uncertain significance 891160 17:48068444-48068444 17:49991080-49991080
21 DLX3 NM_005220.3(DLX3):c.*429C>GSNV Uncertain significance 891161 17:48068452-48068452 17:49991088-49991088
22 DLX3 NM_005220.3(DLX3):c.*75G>ASNV Uncertain significance 892355 17:48068806-48068806 17:49991442-49991442
23 DLX3 NM_005220.3(DLX3):c.140A>G (p.Gln47Arg)SNV Uncertain significance 324026 rs773002632 17:48072223-48072223 17:49994859-49994859
24 DLX3 NM_005220.3(DLX3):c.*1272T>CSNV Uncertain significance 324003 rs192378506 17:48067609-48067609 17:49990245-49990245
25 DLX3 NM_005220.3(DLX3):c.*1205A>CSNV Uncertain significance 324007 rs886053129 17:48067676-48067676 17:49990312-49990312
26 DLX3 NM_005220.3(DLX3):c.*821C>ASNV Uncertain significance 324014 rs886053131 17:48068060-48068060 17:49990696-49990696
27 DLX3 NM_005220.3(DLX3):c.-131C>GSNV Uncertain significance 324029 rs543871008 17:48072493-48072493 17:49995129-49995129
28 DLX3 NM_005220.3(DLX3):c.-135C>TSNV Uncertain significance 324033 rs532523216 17:48072497-48072497 17:49995133-49995133
29 DLX3 NM_005220.3(DLX3):c.-225G>ASNV Uncertain significance 324036 rs546133632 17:48072587-48072587 17:49995223-49995223
30 DLX3 NM_005220.3(DLX3):c.*714C>TSNV Uncertain significance 324015 rs886053132 17:48068167-48068167 17:49990803-49990803
31 DLX3 NM_005220.3(DLX3):c.-132C>ASNV Uncertain significance 324031 rs150591955 17:48072494-48072494 17:49995130-49995130
32 DLX3 NM_005220.3(DLX3):c.*1252C>GSNV Uncertain significance 324004 rs3803879 17:48067629-48067629 17:49990265-49990265
33 DLX3 NM_005220.3(DLX3):c.*988G>ASNV Uncertain significance 324011 rs555823151 17:48067893-48067893 17:49990529-49990529
34 DLX3 NM_005220.3(DLX3):c.*124C>ASNV Uncertain significance 324018 rs886053133 17:48068757-48068757 17:49991393-49991393
35 DLX3 NM_005220.3(DLX3):c.798G>A (p.Pro266=)SNV Uncertain significance 324021 rs569475772 17:48068947-48068947 17:49991583-49991583
36 DLX3 NM_005220.3(DLX3):c.698C>T (p.Pro233Leu)SNV Uncertain significance 324022 rs146899668 17:48069047-48069047 17:49991683-49991683
37 DLX3 NM_005220.3(DLX3):c.-131C>ASNV Uncertain significance 324030 rs543871008 17:48072493-48072493 17:49995129-49995129
38 DLX3 NM_005220.3(DLX3):c.-190C>TSNV Uncertain significance 324035 rs886053136 17:48072552-48072552 17:49995188-49995188
39 DLX3 NM_005220.3(DLX3):c.-37C>GSNV Likely benign 324027 rs375929276 17:48072399-48072399 17:49995035-49995035
40 DLX3 NM_005220.3(DLX3):c.636A>G (p.Ser212=)SNV Likely benign 888963 17:48069109-48069109 17:49991745-49991745
41 DLX3 NM_005220.3(DLX3):c.*1328T>GSNV Likely benign 324000 rs568427405 17:48067553-48067553 17:49990189-49990189
42 DLX3 NM_005220.3(DLX3):c.832G>A (p.Gly278Arg)SNV Likely benign 196407 rs151180891 17:48068913-48068913 17:49991549-49991549
43 DLX3 NM_005220.3(DLX3):c.465G>A (p.Ala155=)SNV Likely benign 324024 rs534788536 17:48070815-48070815 17:49993451-49993451
44 DLX3 NM_005220.3(DLX3):c.*1016G>CSNV Benign 324010 rs74607282 17:48067865-48067865 17:49990501-49990501
45 DLX3 NM_005220.3(DLX3):c.*928A>GSNV Benign 324013 rs12452477 17:48067953-48067953 17:49990589-49990589
46 DLX3 NM_005220.3(DLX3):c.402G>A (p.Thr134=)SNV Benign 259676 rs2303466 17:48070878-48070878 17:49993514-49993514
47 DLX3 NM_005220.3(DLX3):c.138C>T (p.Pro46=)SNV Benign 259675 rs33937843 17:48072225-48072225 17:49994861-49994861
48 DLX3 NM_005220.3(DLX3):c.736G>C (p.Asp246His)SNV Benign 892358 17:48069009-48069009 17:49991645-49991645
49 DLX3 NM_005220.3(DLX3):c.*527G>ASNV Benign 891159 17:48068354-48068354 17:49990990-49990990
50 DLX3 NM_005220.3(DLX3):c.*60G>ASNV Benign 892356 17:48068821-48068821 17:49991457-49991457

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 inner membrane GO:0005743 9.46 MT-CYB MT-CO1 MRPS5 COA3
2 integral component of mitochondrial inner membrane GO:0031305 9.26 MT-CYB COA3
3 mitochondrial respiratory chain complex III GO:0005750 8.96 MT-CYB MT-CO1
4 mitochondrial respiratory chain complex IV GO:0005751 8.62 MT-CO1 COA3

Biological processes related to Amelogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 respiratory electron transport chain GO:0022904 9.16 MT-CYB MT-CO1
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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