AI2A1
MCID: AML013
MIFTS: 24

Amelogenesis Imperfecta, Hypomaturation Type, Iia1 (AI2A1)

Categories: Genetic diseases

Aliases & Classifications for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

MalaCards integrated aliases for Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

Name: Amelogenesis Imperfecta, Hypomaturation Type, Iia1 57 29 6 39 70
Amelogenesis Imperfecta, Type Iia1 57 13
Ai2a1 57 72
Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1 57
Amelogenesis Imperfecta Pigmented Hypomaturation Type 1 72
Amelogenesis Imperfecta, Hypomaturation Type, 2a1 72
Amelogenesis Imperfecta 2 Hypocalcification Type 72
Amelogenesis Imperfecta Hypomineralization Type 72
Aiph 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
detailed clinical information provided for 2 klk-mutation-positive families (last curated march 2015)


HPO:

31
amelogenesis imperfecta, hypomaturation type, iia1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 204700
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
MedGen 41 C2673922
SNOMED-CT via HPO 68 258211005 78494001 80967001
UMLS 70 C2673922

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

OMIM® : 57 Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989). (204700) (Updated 20-May-2021)

MalaCards based summary : Amelogenesis Imperfecta, Hypomaturation Type, Iia1, also known as amelogenesis imperfecta, type iia1, is related to amelogenesis imperfecta, type iiia and amelogenesis imperfecta type 2a1. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia1 is KLK4 (Kallikrein Related Peptidase 4). Affiliated tissues include endothelial, breast and prostate, and related phenotypes are anterior open-bite malocclusion and carious teeth

UniProtKB/Swiss-Prot : 72 Amelogenesis imperfecta, hypomaturation type, 2A1: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

Related Diseases for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Diseases related to Amelogenesis Imperfecta, Hypomaturation Type, Iia1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type iiia 11.6
2 amelogenesis imperfecta type 2a1 11.5
3 amelogenesis imperfecta, hypomaturation type, iia2 11.4
4 amelogenesis imperfecta, type iv 11.4

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Human phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

31
# Description HPO Frequency HPO Source Accession
1 anterior open-bite malocclusion 31 very rare (1%) HP:0009102
2 carious teeth 31 HP:0000670
3 amelogenesis imperfecta 31 HP:0000705

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
caries
enamel is of normal thickness
yellow brown discolored teeth
normal size and shape of teeth
excessive sensitivity to hot and cold
more

Clinical features from OMIM®:

204700 (Updated 20-May-2021)

Drugs & Therapeutics for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Genetic Tests for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Genetic tests related to Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia1 29 KLK4

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

MalaCards organs/tissues related to Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

40
Endothelial, Breast, Prostate

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Articles related to Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

(show all 37)
# Title Authors PMID Year
1
Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing. 6 57
23355523 2013
2
Amelogenesis imperfecta: genotype-phenotype studies in 71 families. 6 57
21597265 2011
3
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. 6 57
15235027 2004
4
A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities. 6
28611678 2017
5
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. 57
15744043 2005
6
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 57
3150442 1988
7
Autosomal recessive pigmented hypomaturation amelogenesis imperfecta. Report of a kindred. 57
4516465 1973
8
Magnetothermally Triggered Free-Radical Generation for Deep-Seated Tumor Treatment. 61
33769824 2021
9
GRPr-mediated photothermal and thermodynamic dual-therapy for prostate cancer with synergistic anti-apoptosis mechanism. 61
33595022 2021
10
CuFeSe2-based thermo-responsive multifunctional nanomaterial initiated by a single NIR light for hypoxic cancer therapy. 61
33242320 2021
11
NIR-triggered thermo-responsive biodegradable hydrogel with combination of photothermal and thermodynamic therapy for hypoxic tumor. 61
33363627 2020
12
Early therapy with corticosteroid and surfactant for acute idiopathic pulmonary hemorrhage in infants: Two case reports. 61
32481307 2020
13
Crimes Against Women: From Violence to Homicide. 61
32046602 2020
14
A two-step precise targeting nanoplatform for tumor therapy via the alkyl radicals activated by the microenvironment of organelles. 61
31672622 2020
15
Hyperthermia and Controllable Free Radical Coenhanced Synergistic Therapy in Hypoxia Enabled by Near-Infrared-II Light Irradiation. 61
31609581 2019
16
Microsurgical Clipping of Distal Basilar Trunk Aneurysm during Adenosine-Induced Profound Hypotension. 61
31903365 2019
17
Localized Free Radicals Burst Triggered by NIR-II Light for Augmented Low-Temperature Photothermal Therapy. 61
31558017 2019
18
Hypoxia-Irrelevant Photonic Thermodynamic Cancer Nanomedicine. 61
30624041 2019
19
Preparation and Characterization of Ophthalmic Polymer Containing Pyridine Group and Platinum Nanoparticles with Initiator Behavior Using Photo and Thermal Polymerization. 61
29954527 2018
20
Near-Infrared-Triggered in Situ Gelation System for Repeatedly Enhanced Photothermal Brachytherapy with a Single Dose. 61
30148960 2018
21
A Case Study of the NCRP 156 Wound Model of Embedded DU Using Data From Urine Uranium Concentrations of Wounded Veterans. 61
29369940 2018
22
Characterization of covalent modifications of HDL apoproteins by endogenous oxidized phospholipids. 61
29155052 2018
23
Hetero-dinuclear complexes of 3d metals with a bridging dinitrogen ligand: theoretical prediction of the characteristic features of geometry and spin multiplicity. 61
27476719 2016
24
Near-Infrared-Light-Assisted Photothermal Polymerization for Transdermal Hydrogelation and Cell Delivery. 61
27109186 2016
25
CASPT2 study of inverse sandwich-type dinuclear 3d transition metal complexes of ethylene and dinitrogen molecules: similarities and differences in geometry, electronic structure, and spin multiplicity. 61
26041561 2015
26
Synthesis and characterization of a novel graft copolymer of partially carboxymethylated guar gum and N-vinylformamide. 61
25439961 2015
27
CASPT2 study of inverse sandwich-type dinuclear Cr(I) and Fe(I) complexes of the dinitrogen molecule: significant differences in spin multiplicity and coordination structure between these two complexes. 61
24475871 2014
28
Theoretical study of inverted sandwich type complexes of 4d transition metal elements: interesting similarities to and differences from 3d transition metal complexes. 61
22283332 2012
29
Inverted sandwich type dinuclear chromium(I) complex and its analogues of scandium(I), titanium(I), vanadium(I), manganese(I), and iron(I): theoretical study of electronic structure and bonding nature. 61
20038121 2010
30
Overoxidation of peroxiredoxins in vivo in cultured human umbilical vein endothelial cells and in damaging light-exposed mouse retinal tissues. 61
18434018 2008
31
Acceleration of lipid peroxidation in alpha-tocopherol transfer protein-knockout mice following the consumption of drinking water containing a radical initiator. 61
18781058 2008
32
Cytotoxic effect of formaldehyde with free radicals via increment of cellular reactive oxygen species. 61
15840437 2005
33
Application of water-soluble radical initiator, 2,2'-azobis[2-(2-imidazolin-2-yl)propane] dihydrochloride, to a study of oxidative stress. 61
15190934 2004
34
Acute idiopathic pulmonary hemorrhage among infants. Recommendations from the Working Group for Investigation and Surveillance. 61
15017372 2004
35
Clinical validity of new ultrasound methods in the differential diagnosis of breast diseases. 61
14965715 2002
36
Pulmonary hemorrhage in deceased infants: baseline data for further study of infant mortality. 61
11394757 2001
37
Impaired Na+,K+ATPase activity in red blood cells in euthyroid women treated with levothyroxine after total thyroidectomy for Graves' disease. 61
9781620 1998

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KLK4 NM_004917.4(KLK4):c.458G>A (p.Trp153Ter) SNV Pathogenic 6079 rs104894704 GRCh37: 19:51411852-51411852
GRCh38: 19:50908596-50908596
2 KLK4 NM_004917.4(KLK4):c.632del (p.Leu211fs) Deletion Pathogenic 288110 rs556734208 GRCh37: 19:51410323-51410323
GRCh38: 19:50907067-50907067
3 KLK4 NM_004917.4(KLK4):c.245del (p.Gly82fs) Deletion Pathogenic 189294 rs786204825 GRCh37: 19:51412065-51412065
GRCh38: 19:50908809-50908809

Expression for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Hypomaturation Type, Iia1.

Pathways for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

GO Terms for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

Sources for Amelogenesis Imperfecta, Hypomaturation Type, Iia1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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