AI1F
MCID: AML050
MIFTS: 22

Amelogenesis Imperfecta, Type if (AI1F)

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

Aliases & Classifications for Amelogenesis Imperfecta, Type if

MalaCards integrated aliases for Amelogenesis Imperfecta, Type if:

Name: Amelogenesis Imperfecta, Type if 57 29 6 39
Ai1f 57 12 72
Amelogenesis Imperfecta, Hypoplastic Type if 57 72
Amelogenesis Imperfecta Type 1f 12 15
Amelogenesis Imperfecta Type if 12 72
Amelogenesis Imperfecta, Hypoplastic Type if; Ai1f 57
Amelogenesis Imperfecta Hypoplastic Type if 12
Amelogenesis Imperfecta 1f 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous costa rican family has been reported (last curated march 2015)


HPO:

31
amelogenesis imperfecta, type if:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110065
OMIM® 57 616270
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
ICD10 32 K00.5

Summaries for Amelogenesis Imperfecta, Type if

UniProtKB/Swiss-Prot : 72 Amelogenesis imperfecta 1F: 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. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition.

MalaCards based summary : Amelogenesis Imperfecta, Type if, is also known as ai1f. An important gene associated with Amelogenesis Imperfecta, Type if is AMBN (Ameloblastin). Related phenotypes are abnormality of dental color and amelogenesis imperfecta

Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13.

OMIM® : 57 Amelogenesis imperfecta type IF is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness (Poulter et al. (2014)). (616270) (Updated 20-May-2021)

Related Diseases for Amelogenesis Imperfecta, Type if

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type if

Human phenotypes related to Amelogenesis Imperfecta, Type if:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of dental color 31 HP:0011073
2 amelogenesis imperfecta 31 HP:0000705
3 hypoplasia of dental enamel 31 HP:0006297
4 dental enamel pits 31 HP:0009722

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
amelogenesis imperfecta, hypoplastic
pitted enamel
discolored teeth
abnormal prismatic structure of enamel seen on scanning electron microscopy

Clinical features from OMIM®:

616270 (Updated 20-May-2021)

Drugs & Therapeutics for Amelogenesis Imperfecta, Type if

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

Genetic Tests for Amelogenesis Imperfecta, Type if

Genetic tests related to Amelogenesis Imperfecta, Type if:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Type if 29 AMBN

Anatomical Context for Amelogenesis Imperfecta, Type if

Publications for Amelogenesis Imperfecta, Type if

Articles related to Amelogenesis Imperfecta, Type if:

# Title Authors PMID Year
1
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. 57 6
26502894 2016
2
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. 57 6
24858907 2014

Variations for Amelogenesis Imperfecta, Type if

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type if:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMBN NM_016519.6(AMBN):c.294+140_531+479del Deletion Pathogenic 183689 GRCh37: 4:71465502-71467849
GRCh38: 4:70599785-70602132
2 AMBN NM_016519.6(AMBN):c.532-1G>C SNV Pathogenic 372171 rs146238585 GRCh37: 4:71468340-71468340
GRCh38: 4:70602623-70602623
3 AMBN NM_016519.6(AMBN):c.1267_1268del (p.Leu423fs) Microsatellite Pathogenic 1033823 GRCh37: 4:71472366-71472367
GRCh38: 4:70606649-70606650
4 AMBN NM_016519.6(AMBN):c.181C>T (p.Gln61Ter) SNV Pathogenic 1033824 GRCh37: 4:71464118-71464118
GRCh38: 4:70598401-70598401
5 AMBN NM_016519.6(AMBN):c.209C>G (p.Ser70Ter) SNV Pathogenic 1033825 GRCh37: 4:71465278-71465278
GRCh38: 4:70599561-70599561
6 AMBN NM_016519.6(AMBN):c.882C>A (p.His294Gln) SNV Likely benign 780465 rs113506649 GRCh37: 4:71471985-71471985
GRCh38: 4:70606268-70606268

Expression for Amelogenesis Imperfecta, Type if

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

Pathways for Amelogenesis Imperfecta, Type if

GO Terms for Amelogenesis Imperfecta, Type if

Sources for Amelogenesis Imperfecta, Type if

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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