AI1A
MCID: AML047
MIFTS: 25

Amelogenesis Imperfecta, Type Ia (AI1A)

Categories: Fetal diseases, 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 57 29 6 40 72
Ai1a 57 12 74
Amelogenesis Imperfecta, Hypoplastic Type Ia 57 74
Amelogenesis Imperfecta Type Ia 12 74
Amelogenesis Imperfecta Hypoplastic Type Ia 12
Amelogenesis Imperfecta Type 1a 12
Amelogenesis Imperfecta 1a 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
teeth may undergo post-eruptive changes


HPO:

32
amelogenesis imperfecta, type ia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110054
MeSH 44 D000567
ICD10 33 K00.5
UMLS 72 C4011403

Summaries for Amelogenesis Imperfecta, Type Ia

UniProtKB/Swiss-Prot : 74 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 salivary gland, 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 : 57 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:

32
# Description HPO Frequency HPO Source Accession
1 taurodontia 32 occasional (7.5%) HP:0000679
2 amelogenesis imperfecta 32 HP:0000705
3 generalized microdontia 32 HP:0006311

Symptoms via clinical synopsis from OMIM:

57
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 29 LAMB3

Anatomical Context for Amelogenesis Imperfecta, Type Ia

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

41
Skin, Salivary Gland

Publications for Amelogenesis Imperfecta, Type Ia

Articles related to Amelogenesis Imperfecta, Type Ia:

(show all 11)
# Title Authors PMID Year
1
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. 8 71
23632796 2014
2
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. 8 71
23958762 2013
3
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. 8 71
16674655 2006
4
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 8
3150442 1988
5
Amelogenesis imperfecta: local hypoplastic type with pulpal calcification. 8
292722 1979
6
[A particular type of dominant hereditary enamel dysplasia?]. 8
265269 1977
7
Enamel hypoplasia and anomalies of the enamel. 8
162891 1975
8
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 38
30046887 2018
9
Structural characterization of core-bradavidin in complex with biotin. 38
28426764 2017
10
High-quality permanent draft genome sequence of Bradyrhizobium sp. Ai1a-2; a microsymbiont of Andira inermis discovered in Costa Rica. 38
26380037 2015
11
Amelogenesis imperfecta: a clinician's challenge. 38
22565521 2012

Variations for Amelogenesis Imperfecta, Type Ia

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LAMB3 NM_000228.3(LAMB3): c.3394dup (p.Glu1132fs) duplication Pathogenic rs786201004 1:209788741-209788741 1:209615396-209615396
2 LAMB3 NM_000228.3(LAMB3): c.3431C> A (p.Ser1144Ter) single nucleotide variant Pathogenic rs869320671 1:209788704-209788704 1:209615359-209615359
3 LAMB3 NM_000228.3(LAMB3): c.3446_3453del (p.Gly1149fs) deletion Pathogenic rs1553275034 1:209788682-209788689 1:209615337-209615344
4 LAMB3 NM_000228.3(LAMB3): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs80356680 1:209823368-209823368 1:209650023-209650023
5 LAMB3 NM_000228.3(LAMB3): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs80356682 1:209799066-209799066 1:209625721-209625721
6 LAMB3 NM_000228.3(LAMB3): c.3340G> T (p.Glu1114Ter) single nucleotide variant Pathogenic rs1553275195 1:209789858-209789858 1:209616513-209616513
7 LAMB3 NM_000228.3(LAMB3): c.3383-1G> A single nucleotide variant Pathogenic rs1553275070 1:209788753-209788753 1:209615408-209615408
8 LAMB3 NM_000228.3(LAMB3): c.1017T> G (p.Tyr339Ter) single nucleotide variant Pathogenic rs774174881 1:209803197-209803197 1:209629852-209629852
9 LAMB3 NM_000228.3(LAMB3): c.1288+1G> T single nucleotide variant Likely pathogenic rs1186161867 1:209801379-209801379 1:209628034-209628034

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
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49 NCI
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51 NDF-RT
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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