MCID: AML008
MIFTS: 11

Amelogenesis Imperfecta Local Hypoplastic

Categories: Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta Local Hypoplastic

MalaCards integrated aliases for Amelogenesis Imperfecta Local Hypoplastic:

Name: Amelogenesis Imperfecta Local Hypoplastic 20 6
Local Hypoplastic Amelogenesis Imperfecta 20

Classifications:



Summaries for Amelogenesis Imperfecta Local Hypoplastic

MalaCards based summary : Amelogenesis Imperfecta Local Hypoplastic, also known as local hypoplastic amelogenesis imperfecta, is related to amelogenesis imperfecta, type ic and hypoplastic amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta Local Hypoplastic is LAMB3 (Laminin Subunit Beta 3).

Related Diseases for Amelogenesis Imperfecta Local Hypoplastic

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

# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type ic 11.7
2 hypoplastic amelogenesis imperfecta 11.4
3 amelogenesis imperfecta, type ia 10.2
4 amelogenesis imperfecta 10.2

Symptoms & Phenotypes for Amelogenesis Imperfecta Local Hypoplastic

Drugs & Therapeutics for Amelogenesis Imperfecta Local Hypoplastic

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta Local Hypoplastic

Genetic Tests for Amelogenesis Imperfecta Local Hypoplastic

Anatomical Context for Amelogenesis Imperfecta Local Hypoplastic

Publications for Amelogenesis Imperfecta Local Hypoplastic

Articles related to Amelogenesis Imperfecta Local Hypoplastic:

# 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
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
Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients. 61
11330937 2001
5
Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. 61
11037750 2000
6
Cloning, characterization and immunolocalization of human ameloblastin. 61
10946765 2000
7
Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21. 61
9027503 1997
8
Amelogenesis imperfecta: local hypoplastic type with pulpal calcification. 61
292722 1979

Variations for Amelogenesis Imperfecta Local Hypoplastic

ClinVar genetic disease variations for Amelogenesis Imperfecta Local Hypoplastic:

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.3383-1G>A SNV Pathogenic 393553 rs1553275070 1:209788753-209788753 1:209615408-209615408
4 LAMB3 NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) SNV Pathogenic 14539 rs80356682 1:209799066-209799066 1:209625721-209625721
5 LAMB3 NM_000228.3(LAMB3):c.3394dup (p.Glu1132fs) Duplication Pathogenic 180677 rs786201004 1:209788740-209788741 1:209615395-209615396
6 LAMB3 NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) SNV Pathogenic 14541 rs80356680 1:209823368-209823368 1:209650023-209650023
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.3340G>T (p.Glu1114Ter) SNV Pathogenic 393554 rs1553275195 1:209789858-209789858 1:209616513-209616513
9 LAMB3 NM_000228.3(LAMB3):c.1288+1G>T SNV Likely pathogenic 551396 rs1186161867 1:209801379-209801379 1:209628034-209628034

Expression for Amelogenesis Imperfecta Local Hypoplastic

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

Pathways for Amelogenesis Imperfecta Local Hypoplastic

GO Terms for Amelogenesis Imperfecta Local Hypoplastic

Sources for Amelogenesis Imperfecta Local Hypoplastic

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
Content
Loading form....