AIH3
MCID: AML011
MIFTS: 26

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 20 70
X-Linked Amelogenesis Imperfecta Hypoplastic/hypomaturation 2 12 6 15
Enamel Hypoplasia, X-Linked 57 20
Amelogenesis Imperfecta 3, Hypoplastic Type, Formerly; Aih3, Formerly 57
Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 1 70
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 (Updated 20-May-2021)
Inheritance:
x-linked


HPO:

31
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110059
OMIM® 57 301201
OMIM Phenotypic Series 57 PS104500
ICD10 32 K00.5
MedGen 41 C1845051
SNOMED-CT via HPO 68 263934009 78494001
UMLS 70 C1845051 C1845052

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). Affiliated tissues include bone, and related phenotype is amelogenesis imperfecta.

More information from OMIM: 301201 PS104500

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

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:

31
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 31 HP:0000705

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
amelogenesis imperfecta, hypoplastic

Clinical features from OMIM®:

301201 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Amelogenesis Imperfecta, Hypoplastic/hypomaturation, X-Linked 2:

40
Bone

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

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

# Title Authors PMID Year
1
Genetic heterogeneity in X-linked amelogenesis imperfecta. 57
1358807 1992
2
Molecular biology of hereditary enamel defects. 61
9189626 1997
3
Clinical features of a family with X-linked amelogenesis imperfecta mapping to a new locus (AIH3) on the long arm of the X chromosome. 61
8361730 1993

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARHGAP6 , AMELX NM_001142.2(AMELX):c.129G>C (p.Gln43His) SNV not provided 96976 rs431825176 GRCh37: X:11316382-11316382
GRCh38: X:11298262-11298262
2 ARHGAP6 , AMELX NM_001142.2(AMELX):c.131G>A (p.Ser44Asn) SNV not provided 96977 rs431825177 GRCh37: X:11316384-11316384
GRCh38: X:11298264-11298264
3 ARHGAP6 , AMELX NM_001142.2(AMELX):c.132C>A (p.Ser44Arg) SNV not provided 96978 rs431825178 GRCh37: X:11316385-11316385
GRCh38: X:11298265-11298265
4 FAM83H NM_198488.4(FAM83H):c.2250C>T (p.Gly750=) SNV not provided 96979 rs431825179 GRCh37: 8:144809381-144809381
GRCh38: 8:143727211-143727211
5 FAM83H NM_198488.4(FAM83H):c.2765G>T (p.Arg922Leu) SNV not provided 96980 rs431825180 GRCh37: 8:144808866-144808866
GRCh38: 8:143726696-143726696
6 FAM83H NM_198488.4(FAM83H):c.2766C>T (p.Arg922=) SNV not provided 96981 rs431825181 GRCh37: 8:144808865-144808865
GRCh38: 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

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.8 AMTN AMELX AMBN

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 cell adhesion GO:0007155 9.5 AMTN AMELX AMBN
2 post-translational protein modification GO:0043687 9.43 AMTN AMELX AMBN
3 cellular protein metabolic process GO:0044267 9.33 AMTN AMELX AMBN
4 odontogenesis of dentin-containing tooth GO:0042475 9.13 AMTN AMELX AMBN
5 biomineral tissue development GO:0031214 8.92 TUFT1 AMTN AMELX AMBN

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 AMELX AMBN
2 structural constituent of tooth enamel GO:0030345 8.8 TUFT1 AMELX AMBN

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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