MCID: HYP658
MIFTS: 26

Hypoplastic Amelogenesis Imperfecta

Categories: Oral diseases, Rare diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Hypoplastic Amelogenesis Imperfecta

MalaCards integrated aliases for Hypoplastic Amelogenesis Imperfecta:

Name: Hypoplastic Amelogenesis Imperfecta 59
Amelogenesis Imperfecta Local Hypoplastic Form 73
Amelogenesis Imperfecta Type 1 59

Characteristics:

Orphanet epidemiological data:

59
hypoplastic amelogenesis imperfecta
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant;

Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

Orphanet 59 ORPHA100031
UMLS via Orphanet 74 C0399367
ICD10 via Orphanet 34 K00.5
UMLS 73 C0399367

Summaries for Hypoplastic Amelogenesis Imperfecta

MalaCards based summary : Hypoplastic Amelogenesis Imperfecta, also known as amelogenesis imperfecta local hypoplastic form, is related to amelogenesis imperfecta and amelogenesis imperfecta, type ig. An important gene associated with Hypoplastic Amelogenesis Imperfecta is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. Related phenotypes are craniofacial and growth/size/body region

Related Diseases for Hypoplastic Amelogenesis Imperfecta

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



Diseases related to Hypoplastic Amelogenesis Imperfecta

Symptoms & Phenotypes for Hypoplastic Amelogenesis Imperfecta

MGI Mouse Phenotypes related to Hypoplastic Amelogenesis Imperfecta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.65 AMBN ENAM FAM20A LAMB3 LTBP3
2 growth/size/body region MP:0005378 9.63 AMBN DLX3 ENAM FAM20A LAMB3 LTBP3
3 respiratory system MP:0005388 9.26 LTBP3 FAM20A ITGB6 LAMB3
4 skeleton MP:0005390 9.02 AMBN ENAM FAM20A LAMB3 LTBP3

Drugs & Therapeutics for Hypoplastic Amelogenesis Imperfecta

Search Clinical Trials , NIH Clinical Center for Hypoplastic Amelogenesis Imperfecta

Genetic Tests for Hypoplastic Amelogenesis Imperfecta

Anatomical Context for Hypoplastic Amelogenesis Imperfecta

Publications for Hypoplastic Amelogenesis Imperfecta

Articles related to Hypoplastic Amelogenesis Imperfecta:

(show all 22)
# Title Authors Year
1
Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta. ( 28771955 )
2017
2
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. ( 28513613 )
2017
3
A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. ( 28130977 )
2017
4
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. ( 27843125 )
2016
5
Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta. ( 25769099 )
2015
6
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. ( 23632796 )
2014
7
Microtensile Bond Strength to Enamel Affected by Hypoplastic Amelogenesis Imperfecta. ( 24027770 )
2013
8
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. ( 21990045 )
2012
9
Overdenture as a restorative option for hypocalcified-hypoplastic amelogenesis imperfecta: a case report. ( 19430628 )
2009
10
Oral rehabilitation of a patient with hypoplastic amelogenesis imperfecta: a case report. ( 21309210 )
2008
11
Severely hypoplastic amelogenesis imperfecta with taurodontism. ( 17559453 )
2007
12
Progressive pre-eruptive crown resorption in autosomal recessive generalized hypoplastic amelogenesis imperfecta. ( 17142066 )
2007
13
Oral rehabilitation of a young adult with hypoplastic amelogenesis imperfecta: a clinical report. ( 16399268 )
2006
14
Case report: clinical management of hypoplastic amelogenesis imperfecta. ( 14529337 )
2003
15
Rough hypoplastic amelogenesis imperfecta with follicular hyperplasia. ( 1508515 )
1992
16
Enamel protein in smooth hypoplastic amelogenesis imperfecta. ( 1303537 )
1992
17
Characterization of the enamel ultrastructure and mineral content in hypoplastic amelogenesis imperfecta. ( 1745518 )
1991
18
Autosomal recessive rough hypoplastic amelogenesis imperfecta. A case report with clinical, light microscopic, radiographic, and electron microscopic observations. ( 3163135 )
1988
19
Dental management of hypoplastic Amelogenesis imperfecta with a simplified acid etch composite resin technique. ( 3078329 )
1987
20
Autosomal dominant smooth hypoplastic amelogenesis imperfecta. Report of a case. ( 4524833 )
1973
21
Demonstration of the lyon hypothesis in X-linked dominant hypoplastic amelogenesis imperfecta. ( 5173207 )
1971
22
Hypoplastic amelogenesis imperfecta: report of case. ( 5233412 )
1967

Variations for Hypoplastic Amelogenesis Imperfecta

ClinVar genetic disease variations for Hypoplastic Amelogenesis Imperfecta:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMB3 NM_000228.2(LAMB3): c.3446_3453delGACTGGAG (p.Gly1149Glufs) deletion Pathogenic rs869320747 GRCh37 Chromosome 1, 209788682: 209788689
2 LAMB3 NM_000228.2(LAMB3): c.3446_3453delGACTGGAG (p.Gly1149Glufs) deletion Pathogenic rs869320747 GRCh38 Chromosome 1, 209615337: 209615344
3 LAMB3 NM_000228.2(LAMB3): c.3431C> A (p.Ser1144Ter) single nucleotide variant Pathogenic rs869320671 GRCh38 Chromosome 1, 209615359: 209615359
4 LAMB3 NM_000228.2(LAMB3): c.3431C> A (p.Ser1144Ter) single nucleotide variant Pathogenic rs869320671 GRCh37 Chromosome 1, 209788704: 209788704
5 LAMB3 NM_000228.2(LAMB3): c.3394dupG (p.Glu1132Glyfs) duplication Pathogenic rs786201004 GRCh37 Chromosome 1, 209788741: 209788741
6 LAMB3 NM_000228.2(LAMB3): c.3394dupG (p.Glu1132Glyfs) duplication Pathogenic rs786201004 GRCh38 Chromosome 1, 209615396: 209615396
7 LAMB3 NM_000228.2(LAMB3): c.3383-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 209615408: 209615408
8 LAMB3 NM_000228.2(LAMB3): c.3383-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 209788753: 209788753
9 LAMB3 NM_000228.2(LAMB3): c.3340G> T (p.Glu1114Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 209616513: 209616513
10 LAMB3 NM_000228.2(LAMB3): c.3340G> T (p.Glu1114Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 209789858: 209789858

Expression for Hypoplastic Amelogenesis Imperfecta

Search GEO for disease gene expression data for Hypoplastic Amelogenesis Imperfecta.

Pathways for Hypoplastic Amelogenesis Imperfecta

Pathways related to Hypoplastic Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 ITGB6 LAMB3 LTBP3
2
Show member pathways
10.49 ITGB6 LTBP3

GO Terms for Hypoplastic Amelogenesis Imperfecta

Cellular components related to Hypoplastic Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.02 AMBN ENAM FAM20A LAMB3 LTBP3

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.33 AMBN ITGB6 LAMB3
2 odontogenesis of dentin-containing tooth GO:0042475 9.13 AMBN DLX3 ENAM
3 biomineral tissue development GO:0031214 8.8 AMBN ENAM FAM20A

Molecular functions related to Hypoplastic Amelogenesis Imperfecta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of tooth enamel GO:0030345 8.62 AMBN ENAM

Sources for Hypoplastic Amelogenesis Imperfecta

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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