Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
AI1A
MCID: AML047
MIFTS: 33

Amelogenesis Imperfecta, Type Ia (AI1A)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Amelogenesis Imperfecta, Type Ia

About this section

MalaCards integrated aliases for Amelogenesis Imperfecta, Type Ia:

Name: Amelogenesis Imperfecta, Type Ia 57 29 6 39 71
Ai1a 57 12 73
Amelogenesis Imperfecta, Hypoplastic Type Ia 57 73
Amelogenesis Imperfecta Type 1a 12 15
Amelogenesis Imperfecta Type Ia 12 73
Amelogenesis Imperfecta Hypoplastic Type Ia 12
Amelogenesis Imperfecta 1a 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
teeth may undergo post-eruptive changes


HPO:

31
amelogenesis imperfecta, type ia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Oral diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110054
OMIM® 57 104530
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
ICD10 32 K00.5
SNOMED-CT via HPO 68 263681008 51744007 78494001
UMLS 71 C4011403
Sources

Summaries for Amelogenesis Imperfecta, Type Ia

About this section
UniProtKB/Swiss-Prot : 73 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, also known as ai1a, is related to ovarian gonadoblastoma and gender identity disorder. An important gene associated with Amelogenesis Imperfecta, Type Ia is LAMB3 (Laminin Subunit Beta 3), and among its related pathways/superpathways are Pathways in cancer and Ovarian steroidogenesis. 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) (Updated 05-Mar-2021)

Sources

Related Diseases for Amelogenesis Imperfecta, Type Ia

About this section

Diseases in the Amelogenesis Imperfecta family:

Amelogenesis Imperfecta, Type Ib Amelogenesis Imperfecta, Type Iv
Amelogenesis Imperfecta, Type Ia Amelogenesis Imperfecta, Type Iiia
Amelogenesis Imperfecta, Type Ic Amelogenesis Imperfecta, Type Ig
Amelogenesis Imperfecta, Type Ie Amelogenesis Imperfecta, Type Ih
Amelogenesis Imperfecta, Type if Amelogenesis Imperfecta, Type Ij
Amelogenesis Imperfecta, Type Iiib Amelogenesis Imperfecta, Type Iiic
Amelogenesis Imperfecta Type 2a1

Diseases related to Amelogenesis Imperfecta, Type Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 ovarian gonadoblastoma 10.0 KIT AMELX
2 gender identity disorder 10.0 CYP19A1 AMELX
3 juvenile nasopharyngeal angiofibroma 9.9 KIT CYP19A1
4 teeth hard tissue disease 9.9 CYP19A1 AMELX
5 leydig cell tumor 9.8 KIT CYP19A1
6 benign fibrous mesothelioma 9.8 KIT ALK
7 maxillary sinus benign neoplasm 9.8 KIT ALK
8 liver leiomyoma 9.8 KIT ALK
9 pleural lipoma 9.8 KIT ALK
10 acute maxillary sinusitis 9.8 PPIG ALK
11 perineurioma 9.8 KIT ALK
12 pseudosarcomatous fibromatosis 9.8 KIT ALK
13 pleomorphic carcinoma 9.8 KIT ALK
14 pericardium disease 9.8 KIT ALK
15 mesenchymal cell neoplasm 9.8 KIT ALK
16 large cell neuroendocrine carcinoma 9.7 KIT ALK
17 sarcomatoid carcinoma 9.7 KIT ALK
18 mucinous adenocarcinoma 9.7 KIT ALK
19 fibrous histiocytoma 9.6 KIT ALK
20 amelogenesis imperfecta 9.6 LGALS4 LAMB3 CYP19A1 AMELX
21 skeletal muscle cancer 9.6 KIT ALK
22 muscle cancer 9.5 KIT ALK

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta, Type Ia:



Diseases related to Amelogenesis Imperfecta, Type Ia
Sources

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ia

About this section

Human phenotypes related to Amelogenesis Imperfecta, Type Ia:

31
# Description HPO Frequency HPO Source Accession
1 taurodontia 31 occasional (7.5%) HP:0000679
2 amelogenesis imperfecta 31 HP:0000705
3 generalized microdontia 31 HP:0006311

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Amelogenesis Imperfecta, Type Ia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 ALK CYP19A1 KIT RHO
Sources

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Ia

About this section

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

Sources

Genetic Tests for Amelogenesis Imperfecta, Type Ia

About this section

Genetic tests related to Amelogenesis Imperfecta, Type Ia:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type Ia 29 LAMB3
Sources

Anatomical Context for Amelogenesis Imperfecta, Type Ia

About this section
Sources

Publications for Amelogenesis Imperfecta, Type Ia

About this section

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. 6 57
23632796 2014
2
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. 57 6
23958762 2013
3
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. 6 57
16674655 2006
4
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 57
3150442 1988
5
Amelogenesis imperfecta: local hypoplastic type with pulpal calcification. 57
292722 1979
6
[A particular type of dominant hereditary enamel dysplasia?]. 57
265269 1977
7
Enamel hypoplasia and anomalies of the enamel. 57
162891 1975
8
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018
9
Structural characterization of core-bradavidin in complex with biotin. 61
28426764 2017
10
High-quality permanent draft genome sequence of Bradyrhizobium sp. Ai1a-2; a microsymbiont of Andira inermis discovered in Costa Rica. 61
26380037 2015
11
Amelogenesis imperfecta: a clinician's challenge. 61
22565521 2012
Sources

Variations for Amelogenesis Imperfecta, Type Ia

About this section

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type Ia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMB3 NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) SNV Pathogenic 14539 rs80356682 1:209799066-209799066 1:209625721-209625721
2 LAMB3 NM_000228.3(LAMB3):c.3340G>T (p.Glu1114Ter) SNV Pathogenic 393554 rs1553275195 1:209789858-209789858 1:209616513-209616513
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.3394dup (p.Glu1132fs) Duplication Pathogenic 180677 rs786201004 1:209788740-209788741 1:209615395-209615396
5 LAMB3 NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter) SNV Pathogenic 180676 rs869320671 1:209788704-209788704 1:209615359-209615359
6 LAMB3 NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs) Deletion Pathogenic 180675 rs1553275034 1:209788682-209788689 1:209615337-209615344
7 LAMB3 NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter) SNV Pathogenic 14541 rs80356680 1:209823368-209823368 1:209650023-209650023
8 LAMB3 NM_000228.3(LAMB3):c.1017T>G (p.Tyr339Ter) SNV Pathogenic 372402 rs774174881 1:209803197-209803197 1:209629852-209629852
9 LAMB3 NM_000228.3(LAMB3):c.1288+1G>T SNV Likely pathogenic 551396 rs1186161867 1:209801379-209801379 1:209628034-209628034
Sources

Expression for Amelogenesis Imperfecta, Type Ia

About this section
Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Ia.
Sources

Pathways for Amelogenesis Imperfecta, Type Ia

About this section

Pathways related to Amelogenesis Imperfecta, Type Ia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 36
11.65 LAMB3 KIT ALK ADCY4
2
Ovarian steroidogenesis 36
10.86 CYP19A1 ADCY4
3
Differentiation Pathway 1
10.64 KIT ALK
Sources

GO Terms for Amelogenesis Imperfecta, Type Ia

About this section

Biological processes related to Amelogenesis Imperfecta, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 8.8 KIT AMELX ALK

Molecular functions related to Amelogenesis Imperfecta, Type Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.62 KIT ALK
Sources

Sources for Amelogenesis Imperfecta, Type Ia

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....