AI2A6
MCID: AML058
MIFTS: 15

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 58 76
Amelogenesis Imperfecta, Hypomaturation Type Iia6 30 6
Ai2a6 58 76
Amelogenesis Imperfecta, Hypomaturation Type, 2a6 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amelogenesis imperfecta, hypomaturation type, iia6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 617217
MeSH 45 D000567
SNOMED-CT via HPO 70 258211005 67289000

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

OMIM : 58 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 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.

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 anterior open bite 33 HP:0200095

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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 Year
1
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. ( 27693231 )
2016

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

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

76
# Symbol AA change Variation ID SNP ID
1 GPR68 p.Leu74Pro VAR_077874 rs105751767

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 rs1555409827 GRCh38 Chromosome 14, 91234216: 91234665
2 GPR68 NM_001177676.1(GPR68): c.386_835del450 (p.Phe129_Asn278del) deletion Pathogenic rs1555409827 GRCh37 Chromosome 14, 91700560: 91701009
3 GPR68 NM_001177676.1(GPR68): c.667_668delAA (p.Lys223Glyfs) deletion Pathogenic rs1057517671 GRCh37 Chromosome 14, 91700727: 91700728
4 GPR68 NM_001177676.1(GPR68): c.667_668delAA (p.Lys223Glyfs) deletion Pathogenic rs1057517671 GRCh38 Chromosome 14, 91234383: 91234384
5 GPR68 NM_001177676.1(GPR68): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057517672 GRCh38 Chromosome 14, 91234830: 91234830
6 GPR68 NM_001177676.1(GPR68): c.221T> C (p.Leu74Pro) single nucleotide variant Pathogenic rs1057517672 GRCh37 Chromosome 14, 91701174: 91701174

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
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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
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47 MGI
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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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