MCID: AML058
MIFTS: 18

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 54 24 71
Amelogenesis Imperfecta, Hypomaturation Type, 2a6 71
Amelogenesis Imperfecta, Hypomaturation Type Iia6 29
Gpr68 24
Ai2a6 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 54 617217
MedGen 40 CN239111
MeSH 42 D000567

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

OMIM : 54
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, also known as amelogenesis imperfecta, hypomaturation type, 2a6, is related to amelogenesis imperfecta and amelogenesis imperfecta hypomaturation type. 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

Diseases related to Amelogenesis Imperfecta, Hypomaturation Type, Iia6 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta 11.5
2 amelogenesis imperfecta hypomaturation type 11.1
3 cerebellar medulloblastoma 10.9
4 cerebellum cancer 10.9
5 rectal prolapse 10.9
6 pancreatitis 9.8

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta, Hypomaturation Type, Iia6:



Diseases related to Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia6

Symptoms via clinical synopsis from OMIM:

54

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:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type Iia6 29
2 Amelogenesis Imperfecta, Hypomaturation Type, Iia6 24

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
id Symbol AA change Variation ID SNP ID
1 GPR68 p.Leu74Pro VAR_077874

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

6
id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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