MCID: AML011
MIFTS: 22

Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Categories: Oral diseases, Rare diseases

Aliases & Classifications for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

MalaCards integrated aliases for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2:

Name: Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 58 54 6 74
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 2 12 15
Enamel Hypoplasia, X-Linked 58 54
Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly; Aih3, Formerly 58
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 74
Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly 58
Amelogenesis Imperfecta, Type Ie, X-Linked 2 58
Amelogenesis Imperfecta Type Ie X-Linked 2 12
Amelogenesis Imperfecta 3 Hypoplastic Type 12
X-Linked Enamel Hypoplasia 12
Aih3, Formerly 58
Aih3 12

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110059
OMIM 58 301201
ICD10 34 K00.5
MedGen 43 C1845051
SNOMED-CT via HPO 70 263934009 78494001

Summaries for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Disease Ontology : 12 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.

MalaCards based summary : Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2, also known as x-linked amelogenesis imperfecta hypoplastic/hypomaturation 2, is related to amelogenesis imperfecta, type ie and amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 is AIH3 (Amelogenesis Imperfecta 3, Hypomaturation Or Hypoplastic Type). Related phenotypes are amelogenesis imperfecta and Decreased hepcidin::fluc mRNA expression

Description from OMIM: 301201

Related Diseases for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Diseases related to Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type ie 32.3 AMELX TUFT1
2 amelogenesis imperfecta 29.8 AMBN AMELX FAM83H
3 cone-rod dystrophy and hearing loss 2 11.1
4 dental pulp necrosis 9.9 AMBN AMELX
5 dental fluorosis 9.9 AMBN AMELX
6 dentine erosion 9.7 AMBN TUFT1
7 amelogenesis imperfecta, type iiia 9.7 AMBN AMELX FAM83H
8 dental caries 9.6 AMELX TUFT1
9 hypocalcified amelogenesis imperfecta 9.5 AMBN FAM83H TUFT1
10 teeth hard tissue disease 9.2 AMBN AMELX FAM83H TUFT1

Graphical network of the top 20 diseases related to Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2:



Diseases related to Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Human phenotypes related to Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2:

33
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 33 HP:0000705

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Teeth:
amelogenesis imperfecta, hypoplastic

Clinical features from OMIM:

301201

GenomeRNAi Phenotypes related to Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 8.92 AMBN AMELX FAM83H TUFT1

Drugs & Therapeutics for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Genetic Tests for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Anatomical Context for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Publications for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Variations for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMELX NM_182680.1(AMELX): c.171G> C (p.Gln57His) single nucleotide variant not provided rs431825176 GRCh37 Chromosome X, 11316382: 11316382
2 AMELX NM_182680.1(AMELX): c.171G> C (p.Gln57His) single nucleotide variant not provided rs431825176 GRCh38 Chromosome X, 11298262: 11298262
3 AMELX NM_182680.1(AMELX): c.173G> A (p.Ser58Asn) single nucleotide variant not provided rs431825177 GRCh37 Chromosome X, 11316384: 11316384
4 AMELX NM_182680.1(AMELX): c.173G> A (p.Ser58Asn) single nucleotide variant not provided rs431825177 GRCh38 Chromosome X, 11298264: 11298264
5 AMELX NM_182680.1(AMELX): c.174C> A (p.Ser58Arg) single nucleotide variant not provided rs431825178 GRCh37 Chromosome X, 11316385: 11316385
6 AMELX NM_182680.1(AMELX): c.174C> A (p.Ser58Arg) single nucleotide variant not provided rs431825178 GRCh38 Chromosome X, 11298265: 11298265
7 FAM83H NM_198488.3(FAM83H): c.2250C> T (p.Gly750=) single nucleotide variant not provided rs431825179 GRCh37 Chromosome 8, 144809381: 144809381
8 FAM83H NM_198488.3(FAM83H): c.2250C> T (p.Gly750=) single nucleotide variant not provided rs431825179 GRCh38 Chromosome 8, 143727211: 143727211
9 FAM83H NM_198488.3(FAM83H): c.2765G> T (p.Arg922Leu) single nucleotide variant not provided rs431825180 GRCh37 Chromosome 8, 144808866: 144808866
10 FAM83H NM_198488.3(FAM83H): c.2765G> T (p.Arg922Leu) single nucleotide variant not provided rs431825180 GRCh38 Chromosome 8, 143726696: 143726696
11 FAM83H NM_198488.3(FAM83H): c.2766C> T (p.Arg922=) single nucleotide variant not provided rs431825181 GRCh37 Chromosome 8, 144808865: 144808865
12 FAM83H NM_198488.3(FAM83H): c.2766C> T (p.Arg922=) single nucleotide variant not provided rs431825181 GRCh38 Chromosome 8, 143726695: 143726695

Expression for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2.

Pathways for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

GO Terms for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

Biological processes related to Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.16 AMBN AMELX
2 odontogenesis of dentin-containing tooth GO:0042475 8.96 AMBN AMELX
3 biomineral tissue development GO:0031214 8.92 AMBN AMELX FAM83H TUFT1

Molecular functions related to Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.96 AMBN AMELX
2 structural constituent of tooth enamel GO:0030345 8.8 AMBN AMELX TUFT1

Sources for Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2

3 CDC
7 CNVD
9 Cosmic
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
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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