MCID: HYP658
MIFTS: 25

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 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 hypercementosis and junctional epidermolysis bullosa. 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. Affiliated tissues include salivary gland, and 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 29)
# Related Disease Score Top Affiliating Genes
1 hypercementosis 30.2 ENAM AMBN
2 junctional epidermolysis bullosa 30.2 LAMB3 ENAM
3 dental caries 29.9 ENAM AMBN
4 trichodentoosseous syndrome 29.3 FAM20A ENAM DLX3 AMBN
5 tooth agenesis 28.9 LTBP3 FAM20A ENAM DLX3 AMBN
6 amelogenesis imperfecta 27.6 RELT LTBP3 LAMB3 ITGB6 FAM20A ENAM
7 amelogenesis imperfecta, type ig 12.3
8 amelogenesis imperfecta, type iv 11.9
9 amelogenesis imperfecta, type ia 11.8
10 dental anomalies and short stature 11.6
11 amelogenesis imperfecta local hypoplastic 11.5
12 amelogenesis imperfecta hypoplastic type, ig 11.5
13 epidermolysis bullosa 10.4
14 hair whorl 10.2
15 taurodontism 10.2
16 amelogenesis imperfecta, type ij 10.2
17 fibroma 10.2
18 dental pulp calcification 10.0 FAM20A ENAM
19 jalili syndrome 10.0 FAM20A ENAM
20 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 9.9 ENAM AMBN
21 enamel caries 9.9 ENAM AMBN
22 amelogenesis imperfecta, type ib 9.9 ENAM AMBN
23 gingival disease 9.9 FAM20A AMBN
24 dental fluorosis 9.9 ENAM AMBN
25 dentin dysplasia 9.8 ENAM AMBN
26 epidermolysis bullosa junctionalis with pyloric atresia 9.7 LAMB3 ITGB6
27 suppurative periapical periodontitis 9.6 FAM20A DLX3 AMBN
28 amelogenesis imperfecta, type iiia 9.3 ITGB6 ENAM AMBN
29 teeth hard tissue disease 9.3 FAM20A ENAM DLX3 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 AMBN ENAM FAM20A LAMB3 LTBP3 RELT
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

MalaCards organs/tissues related to Hypoplastic Amelogenesis Imperfecta:

40
Salivary Gland

Publications for Hypoplastic Amelogenesis Imperfecta

Articles related to Hypoplastic Amelogenesis Imperfecta:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families. 61
30394349 2019
2
Dental caries and hypoplastic amelogenesis imperfecta: Clinical, structural, biochemical and molecular approaches. 61
31254603 2019
3
AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity. 61
31402633 2019
4
Hypoplastic amelogenesis imperfecta: Diagnosis approch. 61
31872417 2019
5
Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta. 61
30120606 2019
6
Mineral features of connective dental hard tissues in hypoplastic amelogenesis imperfecta. 61
28771955 2018
7
An Interdisciplinary Approach for Hypoplastic Amelogenesis Imperfecta: A Case Report. 61
29988328 2018
8
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. 61
28513613 2017
9
A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. 61
28130977 2017
10
Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 61
27843125 2016
11
Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression. 61
27146352 2016
12
A rare association--amelogenesis imperfecta, platispondyly and bicytopenia: a case report. 61
26511208 2015
13
Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta. 61
25827751 2015
14
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. 61
25669657 2015
15
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. 61
25928877 2015
16
Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta. 61
25769099 2015
17
Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta. 61
26171361 2014
18
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. 61
24305999 2014
19
Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma. 61
24992867 2014
20
A historical case of amelogenesis imperfecta: Giovanna of Austria, Grand Duchess of Tuscany (1547-1578). 61
24405030 2014
21
Microtensile bond strength to enamel affected by hypoplastic amelogenesis imperfecta. 61
24027770 2014
22
Enamelin is critical for ameloblast integrity and enamel ultrastructure formation. 61
24603688 2014
23
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. 61
23632796 2014
24
Amelogenesis imperfecta with multiple impacted teeth and skeletal class III malocclusion: complete mouth rehabilitation of a young adult. 61
24210728 2014
25
Functional and esthetic rehabilitation of mutilated dentition associated with amelogenesis imperfecta. 61
23858282 2012
26
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. 61
21990045 2012
27
Aesthetic composite veneers for an adult patient with amelogenesis imperfecta: a case report. 61
22238991 2011
28
Craniofacial characteristics and genotypes of amelogenesis imperfecta patients. 61
21068190 2011
29
Imaging evalution of the gingival fibromatosis and dental abnormalities syndrome. 61
21493880 2011
30
Amelogenesis Imperfecta: Full Mouth Rehabilitation in Deciduous Dentition. 61
27672261 2011
31
Oral rehabilitation of a young adult with amelogenesis imperfecta: a clinical report. 61
22131671 2010
32
Overdenture as a restorative option for hypocalcified-hypoplastic amelogenesis imperfecta: a case report. 61
19430628 2009
33
Pre-eruptive coronal resorption and congenitally missing teeth in a patient with amelogenesis imperfecta: a case report. 61
19421395 2009
34
Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family. 61
18597613 2008
35
Amelogenesis imperfecta: report of a successful transitional treatment in the mixed dentition. 61
18647520 2008
36
Oral rehabilitation of a patient with hypoplastic amelogenesis imperfecta: a case report. 61
21309210 2008
37
Enamel dysplasia with hamartomatous atypical follicular hyperplasia: review of the literature and report of a case. 61
18561808 2008
38
Progressive pre-eruptive crown resorption in autosomal recessive generalized hypoplastic amelogenesis imperfecta. 61
17142066 2007
39
Severely hypoplastic amelogenesis imperfecta with taurodontism. 61
17559453 2007
40
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome. 61
16411202 2006
41
Oral rehabilitation of a young adult with hypoplastic amelogenesis imperfecta: a clinical report. 61
16399268 2006
42
Phenotype of ENAM mutations is dosage-dependent. 61
16246937 2005
43
Amelogenesis imperfecta: the multidisciplinary approach. A case report. 61
14765635 2004
44
Case report: clinical management of hypoplastic amelogenesis imperfecta. 61
14529337 2003
45
Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. 61
11330937 2001
46
Dental findings in Morquio syndrome (mucopolysaccharidoses type IVa). 61
11204070 2000
47
Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. 61
11037750 2000
48
Cloning, characterization and immunolocalization of human ameloblastin. 61
10946765 2000
49
The enamel proteins in human amelogenesis imperfecta. 61
9134127 1997
50
Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21. 61
9027503 1997

Variations for Hypoplastic Amelogenesis Imperfecta

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 amelogenesis GO:0097186 9.16 RELT ENAM
2 odontogenesis of dentin-containing tooth GO:0042475 9.13 ENAM DLX3 AMBN
3 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
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
Content
Loading form....