MCID: AML058
MIFTS: 14

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 57 75
Amelogenesis Imperfecta, Hypomaturation Type Iia6 29 6
Ai2a6 57 75
Amelogenesis Imperfecta, Hypomaturation Type, 2a6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
amelogenesis imperfecta, hypomaturation type, iia6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617217
MeSH 44 D000567
SNOMED-CT via HPO 69 258211005 67289000

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)

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 : 75 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 anterior open bite 32 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 29 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:

75
# 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 GRCh38 Chromosome 14, 91234216: 91234665
2 GPR68 NM_001177676.1(GPR68): c.386_835del450 (p.Phe129_Asn278del) deletion Pathogenic 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
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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