AI1F
MCID: AML050
MIFTS: 20

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 40
Ai1f 57 12 75
Amelogenesis Imperfecta, Hypoplastic Type if 57 75
Amelogenesis Imperfecta Type if 12 75
Amelogenesis Imperfecta, Hypoplastic Type if; Ai1f 57
Amelogenesis Imperfecta Hypoplastic Type if 12
Amelogenesis Imperfecta Type 1f 12
Amelogenesis Imperfecta 1f 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
amelogenesis imperfecta, type if:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616270
Disease Ontology 12 DOID:0110065
ICD10 33 K00.5
MeSH 44 D000567

Summaries for Amelogenesis Imperfecta, Type if

UniProtKB/Swiss-Prot : 75 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 amelogenesis imperfecta and abnormality of dental color

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)

Related Diseases for Amelogenesis Imperfecta, Type if

Symptoms & Phenotypes for Amelogenesis Imperfecta, Type if

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Amelogenesis Imperfecta, Type if:

32
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 32 HP:0000705
2 abnormality of dental color 32 HP:0011073
3 dental enamel pits 32 HP:0009722
4 hypoplasia of dental enamel 32 HP:0006297

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

Variations for Amelogenesis Imperfecta, Type if

ClinVar genetic disease variations for Amelogenesis Imperfecta, Type if:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AMBN NM_016519.5(AMBN): c.294+139_531+478del deletion Pathogenic GRCh38 Chromosome 4, 70599785: 70602132
2 AMBN NM_016519.5(AMBN): c.294+139_531+478del deletion Pathogenic GRCh37 Chromosome 4, 71465502: 71467849
3 AMBN NM_016519.5(AMBN): c.532-1G> C single nucleotide variant Pathogenic rs146238585 GRCh37 Chromosome 4, 71468340: 71468340
4 AMBN NM_016519.5(AMBN): c.532-1G> C single nucleotide variant Pathogenic rs146238585 GRCh38 Chromosome 4, 70602623: 70602623

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 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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