AI2A6
MCID: AML058
MIFTS: 17

Amelogenesis Imperfecta, Hypomaturation Type, Iia6 (AI2A6)

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 57 72
Amelogenesis Imperfecta, Hypomaturation Type Iia6 29 6
Ai2a6 57 72
Amelogenesis Imperfecta, Hypomaturation Type, 2a6 72

Characteristics:

OMIM®:

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


HPO:

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


Classifications:



External Ids:

OMIM® 57 617217
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
SNOMED-CT via HPO 68 258211005

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Amelogenesis Imperfecta, Hypomaturation Type, Iia6, is also known as amelogenesis imperfecta, hypomaturation type iia6. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia6 is GPR68 (G Protein-Coupled Receptor 68). Related phenotype is anterior open-bite malocclusion.

UniProtKB/Swiss-Prot : 72 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

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

31
# Description HPO Frequency HPO Source Accession
1 anterior open-bite malocclusion 31 HP:0009102

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
hypomineralized enamel
creamy opaque enamel (primary and secondary dentition)
yellowish-brown discoloration over time
localized surface roughness
enamel fractures
more

Clinical features from OMIM®:

617217 (Updated 20-May-2021)

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 29 GPR68

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Articles related to Amelogenesis Imperfecta, Hypomaturation Type, Iia6:

# Title Authors PMID Year
1
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. 57 6
27693231 2016
2
Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 57
3150442 1988

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPR68 NM_001177676.2(GPR68):c.235C>T (p.Gln79Ter) SNV Pathogenic 997521 GRCh37: 14:91701160-91701160
GRCh38: 14:91234816-91234816
2 GPR68 NM_001177676.2(GPR68):c.409del (p.Ala137fs) Deletion Pathogenic 1034004 GRCh37: 14:91700986-91700986
GRCh38: 14:91234642-91234642
3 GPR68 NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro) SNV Pathogenic 268086 rs1057517672 GRCh37: 14:91701174-91701174
GRCh38: 14:91234830-91234830
4 GPR68 NM_001177676.2(GPR68):c.386_835del (p.Phe129_Asn278del) Deletion Pathogenic 268084 rs1555409827 GRCh37: 14:91700560-91701009
GRCh38: 14:91234216-91234665
5 GPR68 NM_001177676.2(GPR68):c.667_668del (p.Lys223fs) Deletion Pathogenic 268085 rs1057517671 GRCh37: 14:91700727-91700728
GRCh38: 14:91234383-91234384

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

72
# Symbol AA change Variation ID SNP ID
1 GPR68 p.Leu74Pro VAR_077874 rs105751767

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
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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