AIH
MCID: AML005
MIFTS: 22

Amelogenesis Imperfecta Hypomaturation Type (AIH)

Categories: Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta Hypomaturation Type

MalaCards integrated aliases for Amelogenesis Imperfecta Hypomaturation Type:

Name: Amelogenesis Imperfecta Hypomaturation Type 20 70
Hypomaturation Amelogenesis Imperfecta 58
Amelogenesis Imperfecta Type 2 58
Aih 20

Characteristics:

Orphanet epidemiological data:

58
hypomaturation amelogenesis imperfecta
Inheritance: Autosomal recessive,X-linked dominant;

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

MESH via Orphanet 45 C536606
ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 71 C0399372
Orphanet 58 ORPHA100033
UMLS 70 C0399372

Summaries for Amelogenesis Imperfecta Hypomaturation Type

MalaCards based summary : Amelogenesis Imperfecta Hypomaturation Type, also known as hypomaturation amelogenesis imperfecta, is related to amelogenesis imperfecta, hypomaturation type, iia2 and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta Hypomaturation Type is WDR72 (WD Repeat Domain 72). Related phenotype is craniofacial.

Related Diseases for Amelogenesis Imperfecta Hypomaturation Type

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

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, hypomaturation type, iia2 32.6 WDR72 ODAPH MMP20
2 amelogenesis imperfecta 28.2 WDR72 SLC24A4 ODAPH MMP20 KLK4 GPR68
3 amelogenesis imperfecta, hypomaturation type, iia3 12.0
4 amelogenesis imperfecta, hypomaturation type, iia4 12.0
5 amelogenesis imperfecta, hypomaturation type, iia5 11.9
6 amelogenesis imperfecta, hypomaturation type, iia1 11.9
7 amelogenesis imperfecta, hypomaturation type, iia6 11.9
8 amelogenesis imperfecta, type ie 11.6
9 autoimmune hepatitis 11.6
10 amelogenesis imperfecta type 2a1 11.4
11 autoimmune hepatitis type 2 11.0
12 autoimmune hepatitis type 1 11.0
13 primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome 10.9
14 seronegative autoimmune hepatitis 10.9
15 primary biliary cholangitis 10.3
16 hepatitis 10.3
17 liver cirrhosis 10.3
18 cholangitis 10.3
19 taurodontism 10.2
20 sclerosing cholangitis 10.1
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
22 cholangitis, primary sclerosing 10.0
23 infertility 10.0
24 amelogenesis imperfecta, type ic 10.0 MMP20 AMELX
25 enamel caries 10.0 MMP20 AMELX
26 hypercementosis 10.0 MMP20 AMELX
27 enamel erosion 10.0 MMP20 AMELX
28 jalili syndrome 10.0 WDR72 MMP20
29 papillary craniopharyngioma 10.0 MMP20 AMELX
30 pulmonary hypertension, primary, 1 9.9
31 scleroderma, familial progressive 9.9
32 hepatitis c virus 9.9
33 pulmonary hypertension 9.9
34 inflammatory bowel disease 9.9
35 non-alcoholic steatohepatitis 9.9
36 endometriosis 9.9
37 ulcerative colitis 9.9
38 cryptogenic cirrhosis 9.9
39 immunodeficiency 9 9.9 WDR72 ODAPH
40 dental fluorosis 9.9 MMP20 AMELX
41 dentin dysplasia 9.9 MMP20 AMELX
42 ameloblastoma 9.8 MMP20 AMELX
43 hashimoto thyroiditis 9.8
44 thrombocytopenic purpura, autoimmune 9.8
45 celiac disease 1 9.8
46 tubulin, beta 9.8
47 human immunodeficiency virus type 1 9.8
48 membranous nephropathy 9.8
49 hyperprolactinemia 9.8
50 cholangiocarcinoma 9.8

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta Hypomaturation Type:



Diseases related to Amelogenesis Imperfecta Hypomaturation Type

Symptoms & Phenotypes for Amelogenesis Imperfecta Hypomaturation Type

MGI Mouse Phenotypes related to Amelogenesis Imperfecta Hypomaturation Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 KLK4 MMP20 SLC24A4 WDR72

Drugs & Therapeutics for Amelogenesis Imperfecta Hypomaturation Type

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

Genetic Tests for Amelogenesis Imperfecta Hypomaturation Type

Anatomical Context for Amelogenesis Imperfecta Hypomaturation Type

Publications for Amelogenesis Imperfecta Hypomaturation Type

Articles related to Amelogenesis Imperfecta Hypomaturation Type:

(show all 32)
# Title Authors PMID Year
1
Correction to: Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant. 61
32895769 2020
2
Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant. 61
32034543 2020
3
Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. 61
28473773 2017
4
Noninvasive esthetic treatment for hypomaturation amelogenesis imperfecta: a case report. 61
27814261 2016
5
Critical roles for WDR72 in calcium transport and matrix protein removal during enamel maturation. 61
26247047 2015
6
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation. 61
25442250 2015
7
Compositional, structural and mechanical comparisons of normal enamel and hypomaturation enamel. 61
25172537 2014
8
Evolution of Klk4 and enamel maturation in eutherians. 61
25153384 2014
9
Exonal deletion of SLC24A4 causes hypomaturation amelogenesis imperfecta. 61
24532815 2014
10
Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth. 61
21196691 2011
11
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. 61
19853237 2009
12
Hypomaturation enamel defects in Klk4 knockout/LacZ knockin mice. 61
19578120 2009
13
Premature stop codon in MMP20 causing amelogenesis imperfecta. 61
18096894 2008
14
MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. 61
16246936 2005
15
MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. 61
15744043 2005
16
Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. 61
15235027 2004
17
Inheritance pattern and elemental composition of enamel affected by hypomaturation amelogenesis imperfecta. 61
12489199 2002
18
Microabrasion of teeth with discoloration resembling hypomaturation enamel defects: four-year follow up. 61
11314349 2000
19
Mutational analysis of X-linked amelogenesis imperfecta in multiple families. 61
10669095 2000
20
Hypomaturation amelogenesis imperfecta: account of a family with an X-linked inheritance pattern. 61
10863398 1999
21
The enamel proteins in human amelogenesis imperfecta. 61
9134127 1997
22
The protein of pigmented Polynesian dental enamel. 61
8215996 1993
23
Enamel ultrastructure in pigmented hypomaturation amelogenesis imperfecta. 61
1432732 1992
24
X-linked (recessive) hypomaturation amelogenesis imperfecta: a prosthodontic, genetic, and histopathologic report. 61
1800740 1991
25
Alteration of enamel proteins in hypomaturation amelogenesis imperfecta. 61
2674234 1989
26
Analysis of a kindred with amelogenesis imperfecta. 61
3925102 1985
27
A clinical, genetic, and ultrastructural study of snow-capped teeth: amelogenesis imperfecta, hypomaturation type. 61
6947186 1981
28
X-linked recessive hypomaturation amelogenesis imperfecta: report of case. 61
6946128 1981
29
X-linked hypomaturation amelogenesis imperfecta: a case report. 61
6932309 1980
30
Hypoplastic-hypomaturation amelogenesis imperfecta with taurodontism: report of case. 61
1100695 1975
31
Autosomal recessive pigmented hypomaturation amelogenesis imperfecta. Report of a kindred. 61
4516465 1973
32
Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta. 61
4623931 1972

Variations for Amelogenesis Imperfecta Hypomaturation Type

Expression for Amelogenesis Imperfecta Hypomaturation Type

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

Pathways for Amelogenesis Imperfecta Hypomaturation Type

GO Terms for Amelogenesis Imperfecta Hypomaturation Type

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix disassembly GO:0022617 9.33 WDR72 MMP20 KLK4
2 protein catabolic process GO:0030163 9.32 MMP20 KLK4
3 enamel mineralization GO:0070166 9.26 WDR72 AMELX
4 biomineral tissue development GO:0031214 9.13 WDR72 KLK4 AMELX
5 amelogenesis GO:0097186 8.8 SLC24A4 MMP20 KLK4

Sources for Amelogenesis Imperfecta Hypomaturation Type

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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