MCID: HYP644
MIFTS: 24

Hypocalcified Amelogenesis Imperfecta

Categories: Oral diseases, Rare diseases

Aliases & Classifications for Hypocalcified Amelogenesis Imperfecta

MalaCards integrated aliases for Hypocalcified Amelogenesis Imperfecta:

Name: Hypocalcified Amelogenesis Imperfecta 59
Amelogenesis Imperfecta, Type 3 13 40
Amelogenesis Imperfecta Type 3 59

Characteristics:

Orphanet epidemiological data:

59
hypocalcified amelogenesis imperfecta
Inheritance: Autosomal dominant,Autosomal recessive;

Classifications:

Orphanet: 59  
Rare odontological diseases


External Ids:

Orphanet 59 ORPHA100032
ICD10 via Orphanet 34 K00.5
UMLS via Orphanet 74 C0399376

Summaries for Hypocalcified Amelogenesis Imperfecta

MalaCards based summary : Hypocalcified Amelogenesis Imperfecta, also known as amelogenesis imperfecta, type 3, is related to amelogenesis imperfecta, type iiia and amelogenesis imperfecta. An important gene associated with Hypocalcified Amelogenesis Imperfecta is FAM83H (Family With Sequence Similarity 83 Member H), and among its related pathways/superpathways are Degradation of the extracellular matrix and ECM proteoglycans. Related phenotype is craniofacial.

Related Diseases for Hypocalcified Amelogenesis Imperfecta

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



Diseases related to Hypocalcified Amelogenesis Imperfecta

Symptoms & Phenotypes for Hypocalcified Amelogenesis Imperfecta

MGI Mouse Phenotypes related to Hypocalcified Amelogenesis Imperfecta:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.02 AMBN AMTN ENAM MMP20 SLC24A4

Drugs & Therapeutics for Hypocalcified Amelogenesis Imperfecta

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Time Effects of a Berry Extract Upon Cerebral Blood Flow. Completed NCT01540123 Not Applicable

Search NIH Clinical Center for Hypocalcified Amelogenesis Imperfecta

Genetic Tests for Hypocalcified Amelogenesis Imperfecta

Anatomical Context for Hypocalcified Amelogenesis Imperfecta

Publications for Hypocalcified Amelogenesis Imperfecta

Articles related to Hypocalcified Amelogenesis Imperfecta:

(show all 17)
# Title Authors Year
1
A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families. ( 21504268 )
2012
2
Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation. ( 21702852 )
2011
3
Hardness and microshear bond strength to enamel and dentin of permanent teeth with hypocalcified amelogenesis imperfecta. ( 21470322 )
2011
4
Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation. ( 20160442 )
2010
5
Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta. ( 19825039 )
2009
6
Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta. ( 19220331 )
2009
7
Clinical success of deproteinization in hypocalcified amelogenesis imperfecta. ( 19169442 )
2009
8
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. ( 18252228 )
2008
9
Effect of deproteinization on composite bond strength in hypocalcified amelogenesis imperfecta. ( 16700741 )
2006
10
Dentine structure and mineralization in hypocalcified amelogenesis imperfecta: a quantitative X-ray histochemical study. ( 14996279 )
2004
11
Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta. ( 12887398 )
2003
12
Immunochemical and biochemical characteristics of enamel proteins in hypocalcified amelogenesis imperfecta. ( 9574951 )
1998
13
Enamel pretreatment with sodium hypochlorite to enhance bonding in hypocalcified amelogenesis imperfecta: case report and SEM analysis. ( 7854951 )
1994
14
The mineral composition and enamel ultrastructure of hypocalcified amelogenesis imperfecta. ( 8325967 )
1993
15
The treatment of hypocalcified amelogenesis imperfecta in a young adolescent. ( 6596421 )
1984
16
A kindred showing hypocalcified amelogenesis imperfecta: report of case. ( 4510007 )
1973
17
Hereditary hypocalcified amelogenesis imperfecta. Pedigree analysis. ( 4503458 )
1972

Variations for Hypocalcified Amelogenesis Imperfecta

ClinVar genetic disease variations for Hypocalcified Amelogenesis Imperfecta:

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAM83H NM_198488.3(FAM83H): c.973C> T (p.Arg325Ter) single nucleotide variant Pathogenic rs137854435 GRCh37 Chromosome 8, 144810658: 144810658
2 FAM83H NM_198488.3(FAM83H): c.973C> T (p.Arg325Ter) single nucleotide variant Pathogenic rs137854435 GRCh38 Chromosome 8, 143728488: 143728488
3 FAM83H NM_198488.3(FAM83H): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs137854436 GRCh37 Chromosome 8, 144810439: 144810439
4 FAM83H NM_198488.3(FAM83H): c.1192C> T (p.Gln398Ter) single nucleotide variant Pathogenic rs137854436 GRCh38 Chromosome 8, 143728269: 143728269
5 FAM83H NM_198488.3(FAM83H): c.1243G> T (p.Glu415Ter) single nucleotide variant Pathogenic rs137854437 GRCh37 Chromosome 8, 144810388: 144810388
6 FAM83H NM_198488.3(FAM83H): c.1243G> T (p.Glu415Ter) single nucleotide variant Pathogenic rs137854437 GRCh38 Chromosome 8, 143728218: 143728218
7 FAM83H NM_198488.3(FAM83H): c.891T> A (p.Tyr297Ter) single nucleotide variant Pathogenic rs137854438 GRCh37 Chromosome 8, 144810740: 144810740
8 FAM83H NM_198488.3(FAM83H): c.891T> A (p.Tyr297Ter) single nucleotide variant Pathogenic rs137854438 GRCh38 Chromosome 8, 143728570: 143728570
9 FAM83H NM_198488.3(FAM83H): c.1380G> A (p.Trp460Ter) single nucleotide variant Pathogenic rs137854439 GRCh37 Chromosome 8, 144810251: 144810251
10 FAM83H NM_198488.3(FAM83H): c.1380G> A (p.Trp460Ter) single nucleotide variant Pathogenic rs137854439 GRCh38 Chromosome 8, 143728081: 143728081
11 FAM83H NM_198488.3(FAM83H): c.2029C> T (p.Gln677Ter) single nucleotide variant Pathogenic rs137854440 GRCh37 Chromosome 8, 144809602: 144809602
12 FAM83H NM_198488.3(FAM83H): c.2029C> T (p.Gln677Ter) single nucleotide variant Pathogenic rs137854440 GRCh38 Chromosome 8, 143727432: 143727432
13 FAM83H NM_198488.3(FAM83H): c.1408C> T (p.Gln470Ter) single nucleotide variant Pathogenic rs137854441 GRCh37 Chromosome 8, 144810223: 144810223
14 FAM83H NM_198488.3(FAM83H): c.1408C> T (p.Gln470Ter) single nucleotide variant Pathogenic rs137854441 GRCh38 Chromosome 8, 143728053: 143728053
15 FAM83H NM_198488.3(FAM83H): c.860C> A (p.Ser287Ter) single nucleotide variant Pathogenic rs137854442 GRCh37 Chromosome 8, 144810771: 144810771
16 FAM83H NM_198488.3(FAM83H): c.860C> A (p.Ser287Ter) single nucleotide variant Pathogenic rs137854442 GRCh38 Chromosome 8, 143728601: 143728601
17 FAM83H NM_198488.3(FAM83H): c.2080G> T (p.Glu694Ter) single nucleotide variant Pathogenic rs137854443 GRCh37 Chromosome 8, 144809551: 144809551
18 FAM83H NM_198488.3(FAM83H): c.2080G> T (p.Glu694Ter) single nucleotide variant Pathogenic rs137854443 GRCh38 Chromosome 8, 143727381: 143727381
19 FAM83H NM_198488.3(FAM83H): c.1872_1873delCC (p.Leu625Alafs) deletion Pathogenic rs796065022 GRCh38 Chromosome 8, 143727588: 143727589
20 FAM83H NM_198488.3(FAM83H): c.1872_1873delCC (p.Leu625Alafs) deletion Pathogenic rs796065022 GRCh37 Chromosome 8, 144809758: 144809759
21 FAM83H NM_198488.3(FAM83H): c.923_924delTC (p.Leu308Argfs) deletion Pathogenic rs796065023 GRCh38 Chromosome 8, 143728537: 143728538
22 FAM83H NM_198488.3(FAM83H): c.923_924delTC (p.Leu308Argfs) deletion Pathogenic rs796065023 GRCh37 Chromosome 8, 144810707: 144810708
23 FAM83H NM_198488.3(FAM83H): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic rs137854444 GRCh37 Chromosome 8, 144810252: 144810252
24 FAM83H NM_198488.3(FAM83H): c.1379G> A (p.Trp460Ter) single nucleotide variant Pathogenic rs137854444 GRCh38 Chromosome 8, 143728082: 143728082
25 FAM83H NM_198488.3(FAM83H): c.1366C> T (p.Gln456Ter) single nucleotide variant Pathogenic rs387907056 GRCh37 Chromosome 8, 144810265: 144810265
26 FAM83H NM_198488.3(FAM83H): c.1366C> T (p.Gln456Ter) single nucleotide variant Pathogenic rs387907056 GRCh38 Chromosome 8, 143728095: 143728095
27 FAM83H NM_198488.3(FAM83H): c.2884C> T (p.Leu962=) single nucleotide variant Benign rs11136321 GRCh38 Chromosome 8, 143726577: 143726577
28 FAM83H NM_198488.3(FAM83H): c.2884C> T (p.Leu962=) single nucleotide variant Benign rs11136321 GRCh37 Chromosome 8, 144808747: 144808747
29 FAM83H NM_198488.3(FAM83H): c.1827C> T (p.Tyr609=) single nucleotide variant Benign rs13254035 GRCh38 Chromosome 8, 143727634: 143727634
30 FAM83H NM_198488.3(FAM83H): c.1827C> T (p.Tyr609=) single nucleotide variant Benign rs13254035 GRCh37 Chromosome 8, 144809804: 144809804
31 FAM83H NM_198488.3(FAM83H): c.926_927delTG (p.Val309Glyfs) deletion Pathogenic GRCh37 Chromosome 8, 144810704: 144810705
32 FAM83H NM_198488.3(FAM83H): c.926_927delTG (p.Val309Glyfs) deletion Pathogenic GRCh38 Chromosome 8, 143728534: 143728535

Expression for Hypocalcified Amelogenesis Imperfecta

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

Pathways for Hypocalcified Amelogenesis Imperfecta

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 DSPP ITGB6 MMP20
2 10.38 DSPP ITGB6

GO Terms for Hypocalcified Amelogenesis Imperfecta

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.13 AMBN AMTN ENAM
2 extracellular region GO:0005576 9.1 AMBN AMTN DSPP ENAM MMP20 TUFT1

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.54 AMBN AMTN ENAM
2 cellular protein metabolic process GO:0044267 9.5 AMBN AMTN ENAM
3 odontogenesis of dentin-containing tooth GO:0042475 9.43 AMBN AMTN ENAM
4 positive regulation of enamel mineralization GO:0070175 9.16 AMTN ENAM
5 amelogenesis GO:0097186 9.13 ENAM MMP20 SLC24A4
6 biomineral tissue development GO:0031214 9.1 AMBN AMTN DSPP ENAM FAM83H TUFT1

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of tooth enamel GO:0030345 8.8 AMBN ENAM TUFT1

Sources for Hypocalcified 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
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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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