AI1A
MCID: AML047
MIFTS: 35

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 56 29 6 39 71
Ai1a 56 12 73
Amelogenesis Imperfecta, Hypoplastic Type Ia 56 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:

56
Inheritance:
autosomal dominant

Miscellaneous:
teeth may undergo post-eruptive changes


HPO:

31
amelogenesis imperfecta, type ia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110054
OMIM 56 104530
OMIM Phenotypic Series 56 PS104500
MeSH 43 D000567
ICD10 32 K00.5
SNOMED-CT via HPO 68 263681008 51744007 78494001
UMLS 71 C4011403

Summaries for Amelogenesis Imperfecta, Type Ia

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 nephrolithiasis/osteoporosis, hypophosphatemic, 2 and proximal spinal muscular atrophy. An important gene associated with Amelogenesis Imperfecta, Type Ia is LAMB3 (Laminin Subunit Beta 3). Affiliated tissues include salivary gland and 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 : 56 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

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 31)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.3 SMN2 SMN1
2 proximal spinal muscular atrophy 10.3 SMN2 SMN1
3 autosomal recessive distal hereditary motor neuronopathy 10.2 SMN2 SMN1
4 anterior horn cell disease 10.2 SMN2 SMN1
5 pseudohyperkalemia, familial, 2, due to red cell leak 10.1 NR3C2 AGTR2
6 spinal muscular atrophy, distal, autosomal recessive, 1 10.1 SMN2 SMN1
7 dubowitz syndrome 10.0 SMN2 SMN1
8 adult brain stem glioma 10.0 H3-3B H3-3A
9 bone giant cell sarcoma 10.0 H3-3B H3-3A
10 malignant giant cell tumor 10.0 H3-3B H3-3A
11 spinal cord astrocytoma 10.0 H3-3B H3-3A
12 pneumoconiosis due to talc 10.0 H3-3B H3-3A
13 endometrial stromal sarcoma 10.0 SMN2 SMN1 CYP19A1
14 mental retardation, autosomal dominant 56 10.0 H3-3B H3-3A
15 clear cell chondrosarcoma 9.9 H3-3B H3-3A
16 spinal cord glioma 9.9 H3-3B H3-3A
17 spinal muscular atrophy with progressive myoclonic epilepsy 9.9 SMN2 SMN1
18 retinitis pigmentosa 46 9.7 LGALS4 HUWE1
19 alpha-thalassemia 9.7 H3-3B H3-3A G6PD
20 kunjin encephalitis 9.4 HUWE1 H3-3B H3-3A
21 congenital disorder of glycosylation, type il 9.4 HUWE1 H3-3B H3-3A
22 amelogenesis imperfecta, type if 9.4 HUWE1 H3-3B H3-3A
23 neurodegeneration with brain iron accumulation 6 9.4 HUWE1 H3-3B H3-3A
24 hypotrichosis 2 9.4 HUWE1 H3-3B H3-3A
25 mulibrey nanism 9.4 HUWE1 H3-3B H3-3A
26 pelizaeus-merzbacher disease 9.4 HUWE1 H3-3B H3-3A
27 actinomycosis 9.1 LGALS4 HUWE1 H3-3B H3-3A
28 griscelli syndrome, type 2 9.1 LGALS4 HUWE1 H3-3B H3-3A
29 stuttering 9.0 HUWE1 HHEX H3-3B H3-3A CYP19A1
30 hypotrichosis 1 8.6 PPIG LGALS4 HUWE1 H3-3B H3-3A
31 retinitis pigmentosa 7.8 SMN2 SMN1 RHO LGALS4 HUWE1 HHEX

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



Diseases related to Amelogenesis Imperfecta, Type Ia

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type Ia

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:

56
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:

40
Salivary Gland, Skin

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. 56 6
23632796 2014
2
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. 56 6
23958762 2013
3
Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. 56 6
16674655 2006
4
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 56
3150442 1988
5
Amelogenesis imperfecta: local hypoplastic type with pulpal calcification. 56
292722 1979
6
[A particular type of dominant hereditary enamel dysplasia?]. 56
265269 1977
7
Enamel hypoplasia and anomalies of the enamel. 56
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

Variations for Amelogenesis Imperfecta, Type Ia

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.124C>T (p.Arg42Ter)SNV Pathogenic 14541 rs80356680 1:209823368-209823368 1:209650023-209650023
3 LAMB3 NM_000228.3(LAMB3):c.3446_3453del (p.Gly1149fs)deletion Pathogenic 180675 rs1553275034 1:209788682-209788689 1:209615337-209615344
4 LAMB3 NM_000228.3(LAMB3):c.3431C>A (p.Ser1144Ter)SNV Pathogenic 180676 rs869320671 1:209788704-209788704 1:209615359-209615359
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.1017T>G (p.Tyr339Ter)SNV Pathogenic 372402 rs774174881 1:209803197-209803197 1:209629852-209629852
7 LAMB3 NM_000228.3(LAMB3):c.3383-1G>ASNV Pathogenic 393553 rs1553275070 1:209788753-209788753 1:209615408-209615408
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>TSNV Likely pathogenic 551396 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

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

# Name GO ID Score Top Affiliating Genes
1 SMN-Sm protein complex GO:0034719 9.26 SMN2 SMN1
2 Gemini of coiled bodies GO:0097504 9.16 SMN2 SMN1
3 SMN complex GO:0032797 8.96 SMN2 SMN1
4 Barr body GO:0001740 8.62 H3-3B H3-3A

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

# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.54 H3-3B H3-3A AMELX
2 import into nucleus GO:0051170 9.43 SMN2 SMN1
3 muscle cell differentiation GO:0042692 9.4 H3-3B H3-3A
4 DNA-templated transcription, termination GO:0006353 9.32 SMN2 SMN1
5 pericentric heterochromatin assembly GO:0031508 9.26 H3-3B H3-3A
6 regulation of centromere complex assembly GO:0090230 9.16 H3-3B H3-3A
7 negative regulation of chromosome condensation GO:1902340 8.96 H3-3B H3-3A
8 telomeric heterochromatin assembly GO:0031509 8.62 H3-3B H3-3A

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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