AIH3
MCID: AML011
MIFTS: 24

Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2 (AIH3)

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 57 53 6 73
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 2 12 15
Enamel Hypoplasia, X-Linked 57 53
Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly; Aih3, Formerly 57
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 73
Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly 57
Amelogenesis Imperfecta, Type Ie, X-Linked 2 57
Amelogenesis Imperfecta-3, Hypoplastic Type 13
Amelogenesis Imperfecta Type Ie X-Linked 2 12
Amelogenesis Imperfecta 3 Hypoplastic Type 12
X-Linked Enamel Hypoplasia 12
Aih3, Formerly 57
Aih3 12

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 301201
Disease Ontology 12 DOID:0110059
ICD10 33 K00.5
MedGen 42 C1845051
SNOMED-CT via HPO 69 78494001 263934009

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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 amelogenesis imperfecta, type ie 32.3 AMELX AMELY TUFT1
2 amelogenesis imperfecta 29.5 AMBN AMELX AMELY FAM83H
3 perrault syndrome 1 11.1
4 enamel caries 10.0 AMELX AMELY
5 epulis 10.0 AMELX AMELY
6 freemartinism 10.0 AMELX AMELY
7 retinitis pigmentosa 59 10.0 AMELX AMELY
8 tooth resorption 10.0 AMELX AMELY
9 peptic ulcer perforation 9.9 AMELX AMELY
10 dental fluorosis 9.9 AMBN AMELX
11 dentine erosion 9.8 AMBN TUFT1
12 dental caries 9.8 AMELX TUFT1
13 amelogenesis imperfecta, type iiia 9.8 AMBN AMELX FAM83H
14 dental pulp necrosis 9.7 AMBN AMELX AMELY
15 hypocalcified amelogenesis imperfecta 9.7 AMBN FAM83H TUFT1
16 teeth hard tissue disease 9.4 AMBN AMELX AMELY 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
amelogenesis imperfecta, hypoplastic


Clinical features from OMIM:

301201

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

32
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 32 HP:0000705

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

26
# 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 biomineral tissue development GO:0031214 9.02 AMBN AMELX AMELY FAM83H TUFT1
2 odontogenesis of dentin-containing tooth GO:0042475 8.96 AMBN AMELX

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 8.92 AMBN AMELX AMELY TUFT1

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

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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