MCID: AML058
MIFTS: 15

Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Categories: Genetic diseases

Aliases & Classifications for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

MalaCards integrated aliases for Amelogenesis Imperfecta, Hypomaturation Type, Iia6:

Name: Amelogenesis Imperfecta, Hypomaturation Type, Iia6 53 71
Ai2a6 53 71
Amelogenesis Imperfecta, Hypomaturation Type, 2a6 71
Amelogenesis Imperfecta, Hypomaturation Type Iia6 28

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
amelogenesis imperfecta, hypomaturation type, iia6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 617217
MeSH 41 D000567
SNOMED-CT via HPO 65 258211005 67289000

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

OMIM : 53 Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989). (617217)

MalaCards based summary : Amelogenesis Imperfecta, Hypomaturation Type, Iia6, is also known as ai2a6, and has symptoms including anterior open bite An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia6 is GPR68 (G Protein-Coupled Receptor 68).

UniProtKB/Swiss-Prot : 71 Amelogenesis imperfecta, hypomaturation type, 2A6: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

Related Diseases for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Teeth:
creamy opaque enamel (primary and secondary dentition)
yellowish-brown discoloration over time
hypomineralized enamel
localized surface roughness
enamel fractures
more

Clinical features from OMIM:

617217

Human phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia6:

31
# Description HPO Frequency HPO Source Accession
1 anterior open bite 31 HP:0200095

Drugs & Therapeutics for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Genetic Tests for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Genetic tests related to Amelogenesis Imperfecta, Hypomaturation Type, Iia6:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type Iia6 28 GPR68

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

UniProtKB/Swiss-Prot genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia6:

71
# Symbol AA change Variation ID SNP ID
1 GPR68 p.Leu74Pro VAR_077874 rs1057517672Amelogenesis

ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPR68 NM_001177676.1(GPR68): c.386_835del450 (p.Phe129_Asn278del) deletion Pathogenic GRCh37 Chromosome 14, 91700560: 91701009
2 GPR68 NM_001177676.1(GPR68): c.667_668delAA (p.Lys223Glyfs) deletion Pathogenic rs1057517671 GRCh37 Chromosome 14, 91700727: 91700728
3 GPR68 NM_001177676.1(GPR68): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057517672 GRCh38 Chromosome 14, 91234830: 91234830

Expression for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Hypomaturation Type, Iia6.

Pathways for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

GO Terms for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Sources for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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