AI1A
MCID: AML047
MIFTS: 22

Amelogenesis Imperfecta, Type Ia (AI1A)

Categories: Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta, Type Ia

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ia:

Name: Amelogenesis Imperfecta, Type Ia 58 30 6 41 74
Ai1a 58 12 76
Amelogenesis Imperfecta, Hypoplastic Type Ia 58 76
Amelogenesis Imperfecta Type Ia 12 76
Amelogenesis Imperfecta Hypoplastic Type Ia 12
Amelogenesis Imperfecta Type 1a 12
Amelogenesis Imperfecta 1a 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
teeth may undergo post-eruptive changes


HPO:

33
amelogenesis imperfecta, type ia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110054
OMIM 58 104530
MeSH 45 D000567
ICD10 34 K00.5
SNOMED-CT via HPO 70 263681008 51744007 78494001
UMLS 74 C4011403

Summaries for Amelogenesis Imperfecta, Type Ia

UniProtKB/Swiss-Prot : 76 Amelogenesis imperfecta 1A: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration.

MalaCards based summary : Amelogenesis Imperfecta, Type Ia, is also known as ai1a. An important gene associated with Amelogenesis Imperfecta, Type Ia is LAMB3 (Laminin Subunit Beta 3). Affiliated tissues include skin, and related phenotypes are taurodontia and amelogenesis imperfecta

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.

OMIM : 58 Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see Witkop, 1989). (104530)

Related Diseases for Amelogenesis Imperfecta, Type Ia

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ia

Human phenotypes related to Amelogenesis Imperfecta, Type Ia:

33
# Description HPO Frequency HPO Source Accession
1 taurodontia 33 occasional (7.5%) HP:0000679
2 amelogenesis imperfecta 33 HP:0000705
3 generalized microdontia 33 HP:0006311

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
amelogenesis imperfecta, hypoplastic
thin enamel
pitted enamel
grooved enamel
taurodontism (reported in 1 patient)
more
Skin Nails Hair Skin:
normal skin

Clinical features from OMIM:

104530

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ia

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Type Ia

Genetic Tests for Amelogenesis Imperfecta, Type Ia

Genetic tests related to Amelogenesis Imperfecta, Type Ia:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type Ia 30 LAMB3

Anatomical Context for Amelogenesis Imperfecta, Type Ia

MalaCards organs/tissues related to Amelogenesis Imperfecta, Type Ia:

42
Skin

Publications for Amelogenesis Imperfecta, Type Ia

Articles related to Amelogenesis Imperfecta, Type Ia:

# Title Authors Year
1
High-quality permanent draft genome sequence of Bradyrhizobium sp. Ai1a-2; a microsymbiont of Andira inermis discovered in Costa Rica. ( 26380037 )
2015
2
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. ( 23632796 )
2014
3
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. ( 23958762 )
2013
4
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. ( 16674655 )
2006

Variations for Amelogenesis Imperfecta, Type Ia

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ia:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMB3 NM_000228.2(LAMB3): c.3446_3453delGACTGGAG (p.Gly1149Glufs) deletion Pathogenic rs1553275034 GRCh37 Chromosome 1, 209788682: 209788689
2 LAMB3 NM_000228.2(LAMB3): c.3446_3453delGACTGGAG (p.Gly1149Glufs) deletion Pathogenic rs1553275034 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.1288+1G> T single nucleotide variant Likely pathogenic rs1186161867 GRCh38 Chromosome 1, 209628034: 209628034
8 LAMB3 NM_000228.2(LAMB3): c.1288+1G> T single nucleotide variant Likely pathogenic rs1186161867 GRCh37 Chromosome 1, 209801379: 209801379
9 LAMB3 NM_000228.2(LAMB3): c.1017T> G (p.Tyr339Ter) single nucleotide variant Pathogenic rs774174881 GRCh38 Chromosome 1, 209629852: 209629852
10 LAMB3 NM_000228.2(LAMB3): c.1017T> G (p.Tyr339Ter) single nucleotide variant Pathogenic rs774174881 GRCh37 Chromosome 1, 209803197: 209803197
11 LAMB3 NM_000228.2(LAMB3): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs80356680 GRCh38 Chromosome 1, 209650023: 209650023
12 LAMB3 NM_000228.2(LAMB3): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs80356680 GRCh37 Chromosome 1, 209823368: 209823368
13 LAMB3 NM_000228.2(LAMB3): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs80356682 GRCh38 Chromosome 1, 209625721: 209625721
14 LAMB3 NM_000228.2(LAMB3): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs80356682 GRCh37 Chromosome 1, 209799066: 209799066
15 LAMB3 NM_000228.2(LAMB3): c.3340G> T (p.Glu1114Ter) single nucleotide variant Pathogenic rs1553275195 GRCh37 Chromosome 1, 209789858: 209789858
16 LAMB3 NM_000228.2(LAMB3): c.3340G> T (p.Glu1114Ter) single nucleotide variant Pathogenic rs1553275195 GRCh38 Chromosome 1, 209616513: 209616513
17 LAMB3 NM_000228.2(LAMB3): c.3383-1G> A single nucleotide variant Pathogenic rs1553275070 GRCh37 Chromosome 1, 209788753: 209788753
18 LAMB3 NM_000228.2(LAMB3): c.3383-1G> A single nucleotide variant Pathogenic rs1553275070 GRCh38 Chromosome 1, 209615408: 209615408

Expression for Amelogenesis Imperfecta, Type Ia

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Ia.

Pathways for Amelogenesis Imperfecta, Type Ia

GO Terms for Amelogenesis Imperfecta, Type Ia

Sources for Amelogenesis Imperfecta, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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