MCID: HYP658
MIFTS: 28

Hypoplastic Amelogenesis Imperfecta

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

Aliases & Classifications for Hypoplastic Amelogenesis Imperfecta

MalaCards integrated aliases for Hypoplastic Amelogenesis Imperfecta:

Name: Hypoplastic Amelogenesis Imperfecta 58
Amelogenesis Imperfecta Local Hypoplastic Form 71
Amelogenesis Imperfecta, Hypoplastic Type 6
Amelogenesis Imperfecta Type 1 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare odontological diseases


External Ids:

ICD10 via Orphanet 33 K00.5
UMLS via Orphanet 72 C0399367
Orphanet 58 ORPHA100031
UMLS 71 C0399367

Summaries for Hypoplastic Amelogenesis Imperfecta

MalaCards based summary : Hypoplastic Amelogenesis Imperfecta, also known as amelogenesis imperfecta local hypoplastic form, is related to junctional epidermolysis bullosa and hypercementosis. 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

Diseases in the Hypoplastic Amelogenesis Imperfecta family:

Amelogenesis Imperfecta Hypoplastic Type, Ig

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 junctional epidermolysis bullosa 30.1 LAMB3 ENAM
2 hypercementosis 30.0 ENAM AMBN
3 dental caries 29.8 ENAM AMBN
4 trichodentoosseous syndrome 29.4 FAM20A ENAM DLX3 AMBN
5 tooth agenesis 29.1 LTBP3 FAM20A ENAM DLX3 AMBN
6 amelogenesis imperfecta 28.5 RELT LTBP3 LAMB3 ITGB6 FAM20A ENAM
7 amelogenesis imperfecta, type if 11.6
8 amelogenesis imperfecta, type ig 11.6
9 dental anomalies and short stature 11.4
10 amelogenesis imperfecta, type iv 11.3
11 amelogenesis imperfecta local hypoplastic 11.3
12 amelogenesis imperfecta, type ia 11.3
13 amelogenesis imperfecta hypoplastic type, ig 11.3
14 epidermolysis bullosa 10.3
15 hair whorl 10.1
16 taurodontism 10.1
17 amelogenesis imperfecta, type ij 10.1
18 fibroma 10.1
19 dental pulp calcification 10.0 FAM20A ENAM
20 immunodeficiency 10 10.0 FAM20A AMBN
21 jalili syndrome 9.9 FAM20A ENAM
22 dentine erosion 9.9 ENAM AMBN
23 pulp degeneration 9.9 ENAM AMBN
24 gingival disease 9.9 FAM20A AMBN
25 enamel caries 9.9 ENAM AMBN
26 tooth erosion 9.9 ENAM AMBN
27 amelogenesis imperfecta, type ib 9.9 ENAM AMBN
28 dental fluorosis 9.8 ENAM AMBN
29 epidermolysis bullosa junctionalis with pyloric atresia 9.8 LAMB3 ITGB6
30 dentin dysplasia 9.8 ENAM AMBN
31 teeth hard tissue disease 9.5 FAM20A ENAM DLX3 AMBN
32 amelogenesis imperfecta, type iiia 9.5 ITGB6 ENAM AMBN

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 9.7 AMBN DLX3 ENAM FAM20A LAMB3 LTBP3
2 growth/size/body region MP:0005378 9.5 AMBN DLX3 ENAM FAM20A LAMB3 LTBP3
3 skeleton MP:0005390 9.1 AMBN ENAM FAM20A LAMB3 LTBP3 RELT

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 top 50) (show all 67)
# Title Authors PMID Year
1
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. 6 61
23632796 2014
2
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. 6
23958762 2013
3
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. 6
16674655 2006
4
Amelogenesis imperfecta with Class III malocclusion, reduced crown size and decreased OVD: A multi-disciplinary management and a 5-year follow-up. 61
32884771 2020
5
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. 61
30394349 2019
6
Dental caries and hypoplastic amelogenesis imperfecta: Clinical, structural, biochemical and molecular approaches. 61
31254603 2019
7
AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity. 61
31402633 2019
8
Hypoplastic amelogenesis imperfecta: Diagnosis approch. 61
31872417 2019
9
Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. 61
30120606 2019
10
Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta. 61
28771955 2018
11
An Interdisciplinary Approach for Hypoplastic Amelogenesis Imperfecta: A Case Report. 61
29988328 2018
12
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. 61
28513613 2017
13
Periodontal disease and FAM20A mutations. 61
28298625 2017
14
A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. 61
28130977 2017
15
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 61
27843125 2016
16
Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression. 61
27146352 2016
17
A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report. 61
26511208 2015
18
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. 61
25669657 2015
19
Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta. 61
25827751 2015
20
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. 61
25928877 2015
21
Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta. 61
25769099 2015
22
Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta. 61
26171361 2014
23
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. 61
24305999 2014
24
Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. 61
24992867 2014
25
A historical case of amelogenesis imperfecta: Giovanna of Austria, Grand Duchess of Tuscany (1547-1578). 61
24405030 2014
26
Microtensile bond strength to enamel affected by hypoplastic amelogenesis imperfecta. 61
24027770 2014
27
Enamelin is critical for ameloblast integrity and enamel ultrastructure formation. 61
24603688 2014
28
Amelogenesis imperfecta with multiple impacted teeth and skeletal class III malocclusion: complete mouth rehabilitation of a young adult. 61
24210728 2014
29
Functional and esthetic rehabilitation of mutilated dentition associated with amelogenesis imperfecta. 61
23858282 2012
30
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. 61
21990045 2012
31
Aesthetic composite veneers for an adult patient with amelogenesis imperfecta: a case report. 61
22238991 2011
32
Craniofacial characteristics and genotypes of amelogenesis imperfecta patients. 61
21068190 2011
33
Imaging evalution of the gingival fibromatosis and dental abnormalities syndrome. 61
21493880 2011
34
Amelogenesis Imperfecta: Full Mouth Rehabilitation in Deciduous Dentition. 61
27672261 2011
35
Oral rehabilitation of a young adult with amelogenesis imperfecta: a clinical report. 61
22131671 2010
36
Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report. 61
20640366 2010
37
Overdenture as a restorative option for hypocalcified-hypoplastic amelogenesis imperfecta: a case report. 61
19430628 2009
38
Pre-eruptive coronal resorption and congenitally missing teeth in a patient with amelogenesis imperfecta: a case report. 61
19421395 2009
39
Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. 61
18597613 2008
40
Amelogenesis imperfecta: report of a successful transitional treatment in the mixed dentition. 61
18647520 2008
41
Oral rehabilitation of a patient with hypoplastic amelogenesis imperfecta: a case report. 61
21309210 2008
42
Enamel dysplasia with hamartomatous atypical follicular hyperplasia: review of the literature and report of a case. 61
18561808 2008
43
Progressive pre-eruptive crown resorption in autosomal recessive generalized hypoplastic amelogenesis imperfecta. 61
17142066 2007
44
Severely hypoplastic amelogenesis imperfecta with taurodontism. 61
17559453 2007
45
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome. 61
16411202 2006
46
Oral rehabilitation of a young adult with hypoplastic amelogenesis imperfecta: a clinical report. 61
16399268 2006
47
Phenotype of ENAM mutations is dosage-dependent. 61
16246937 2005
48
Amelogenesis imperfecta: the multidisciplinary approach. A case report. 61
14765635 2004
49
Case report: clinical management of hypoplastic amelogenesis imperfecta. 61
14529337 2003
50
Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. 61
11330937 2001

Variations for Hypoplastic Amelogenesis Imperfecta

ClinVar genetic disease variations for Hypoplastic Amelogenesis Imperfecta:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMB3 NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) Deletion Pathogenic 180675 rs1553275034 1:209788682-209788689 1:209615337-209615344
2 LAMB3 NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter) SNV Pathogenic 180676 rs869320671 1:209788704-209788704 1:209615359-209615359
3 LAMB3 NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs) Duplication Pathogenic 180677 rs786201004 1:209788740-209788741 1:209615395-209615396
4 LAMB3 NM_000228.3(LAMB3):c.3383-1G>A SNV Pathogenic 393553 rs1553275070 1:209788753-209788753 1:209615408-209615408
5 LAMB3 NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) SNV Pathogenic 393554 rs1553275195 1:209789858-209789858 1:209616513-209616513
6 LAMB3 NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) SNV Pathogenic 14539 rs80356682 1:209799066-209799066 1:209625721-209625721
7 LAMB3 NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) SNV Pathogenic 372402 rs774174881 1:209803197-209803197 1:209629852-209629852
8 LAMB3 NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) SNV Pathogenic 14541 rs80356680 1:209823368-209823368 1:209650023-209650023
9 LAMB3 NM_000228.3(LAMB3):c.1288+1G>T SNV Likely pathogenic 551396 rs1186161867 1:209801379-209801379 1:209628034-209628034

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 LTBP3 LAMB3 ITGB6
2
Show member pathways
10.49 LTBP3 ITGB6

GO Terms for Hypoplastic Amelogenesis Imperfecta

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

# Name GO ID Score Top Affiliating Genes
1 odontogenesis of dentin-containing tooth GO:0042475 9.26 DLX3 AMBN
2 enamel mineralization GO:0070166 9.16 ITGB6 FAM20A
3 amelogenesis GO:0097186 8.96 RELT ENAM
4 biomineral tissue development GO:0031214 8.8 FAM20A ENAM AMBN

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 ENAM AMBN

Sources for Hypoplastic Amelogenesis Imperfecta

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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