AI1F
MCID: AML050
MIFTS: 19

Amelogenesis Imperfecta, Type if (AI1F)

Categories: 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 58 30 6 41
Ai1f 58 12 76
Amelogenesis Imperfecta, Hypoplastic Type if 58 76
Amelogenesis Imperfecta Type if 12 76
Amelogenesis Imperfecta, Hypoplastic Type if; Ai1f 58
Amelogenesis Imperfecta Hypoplastic Type if 12
Amelogenesis Imperfecta Type 1f 12
Amelogenesis Imperfecta 1f 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
amelogenesis imperfecta, type if:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110065
OMIM 58 616270
MeSH 45 D000567
ICD10 34 K00.5

Summaries for Amelogenesis Imperfecta, Type if

UniProtKB/Swiss-Prot : 76 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 : 58 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

Human phenotypes related to Amelogenesis Imperfecta, Type if:

33
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 33 HP:0000705
2 abnormality of dental color 33 HP:0011073
3 dental enamel pits 33 HP:0009722
4 hypoplasia of dental enamel 33 HP:0006297

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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