AI1A
MCID: AML047
MIFTS: 20

Amelogenesis Imperfecta, Type Ia (AI1A)

Categories: Genetic diseases, Oral diseases, Rare diseases, Nephrological diseases, Fetal 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 73
Ai1a 57 12 75
Amelogenesis Imperfecta, Hypoplastic Type Ia 57 75
Amelogenesis Imperfecta Type Ia 12 75
Amelogenesis Imperfecta Hypoplastic Type Ia 12
Amelogenesis Imperfecta Type 1a 12
Amelogenesis Imperfecta 1a 75

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:

OMIM 57 104530
Disease Ontology 12 DOID:0110054
ICD10 33 K00.5
MeSH 44 D000567
SNOMED-CT via HPO 69 263681008 51744007 78494001
UMLS 73 C4011403

Summaries for Amelogenesis Imperfecta, Type Ia

UniProtKB/Swiss-Prot : 75 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

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)

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

Related Diseases for Amelogenesis Imperfecta, Type Ia

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ia

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

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

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

Publications for Amelogenesis Imperfecta, Type Ia

Variations for Amelogenesis Imperfecta, Type Ia

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMB3 NM_000228.2(LAMB3): c.3446_3453delGACTGGAG (p.Gly1149Glufs) deletion Pathogenic rs869320747 GRCh37 Chromosome 1, 209788682: 209788689
2 LAMB3 NM_000228.2(LAMB3): c.3446_3453delGACTGGAG (p.Gly1149Glufs) deletion Pathogenic rs869320747 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.3383-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 209615408: 209615408
8 LAMB3 NM_000228.2(LAMB3): c.3383-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 209788753: 209788753
9 LAMB3 NM_000228.2(LAMB3): c.3340G> T (p.Glu1114Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 209616513: 209616513
10 LAMB3 NM_000228.2(LAMB3): c.3340G> T (p.Glu1114Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 209789858: 209789858

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 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
50 NCIt
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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