AI2A4
MCID: AML039
MIFTS: 18

Amelogenesis Imperfecta, Hypomaturation Type, Iia4 (AI2A4)

Categories: Genetic diseases, Oral diseases

Aliases & Classifications for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

MalaCards integrated aliases for Amelogenesis Imperfecta, Hypomaturation Type, Iia4:

Name: Amelogenesis Imperfecta, Hypomaturation Type, Iia4 57 13 39 70
Ai2a4 57 12 72
Amelogenesis Imperfecta, Hypomaturation Type Iia4 29 6
Amelogenesis Imperfecta Pigmented Hypomaturation Type Iia4 72
Amelogenesis Imperfecta, Hypomaturation Type, 2a4 72
Amelogenesis Imperfecta Hypomaturation Type Iia4 12
Amelogenesis Imperfecta Hypomaturation Type 2a4 12
Amelogenesis Imperfecta, Type Iia4 57
Amelogenesis Imperfecta Type Iia4 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
amelogenesis imperfecta, hypomaturation type, iia4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110062
OMIM® 57 614832
OMIM Phenotypic Series 57 PS104500
MeSH 44 D000567
ICD10 32 K00.5
UMLS 70 C3553830

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

UniProtKB/Swiss-Prot : 72 Amelogenesis imperfecta, hypomaturation type, 2A4: 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.

MalaCards based summary : Amelogenesis Imperfecta, Hypomaturation Type, Iia4, is also known as ai2a4. An important gene associated with Amelogenesis Imperfecta, Hypomaturation Type, Iia4 is ODAPH (Odontogenesis Associated Phosphoprotein). Related phenotypes are amelogenesis imperfecta and hypoplasia of dental enamel

Disease Ontology : 12 An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21.

More information from OMIM: 614832 PS104500

Related Diseases for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Human phenotypes related to Amelogenesis Imperfecta, Hypomaturation Type, Iia4:

31
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 31 HP:0000705
2 hypoplasia of dental enamel 31 HP:0006297
3 hypomineralization of enamel 31 HP:0006285

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Teeth:
amelogenesis imperfecta
hypomineralized enamel
yellowish brown enamel
enamel hypoplasia, mild developmental
enamel volume loss, posteruptive
more

Clinical features from OMIM®:

614832 (Updated 05-Apr-2021)

Drugs & Therapeutics for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Search Clinical Trials , NIH Clinical Center for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Genetic Tests for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Genetic tests related to Amelogenesis Imperfecta, Hypomaturation Type, Iia4:

# Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type Iia4 29 ODAPH

Anatomical Context for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Publications for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Articles related to Amelogenesis Imperfecta, Hypomaturation Type, Iia4:

# Title Authors PMID Year
1
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. 6 57
22901946 2012

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

ClinVar genetic disease variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ODAPH NM_001206981.2(ODAPH):c.273C>T (p.His91=) SNV Pathogenic 37216 rs866941536 GRCh37: 4:76489485-76489485
GRCh38: 4:75564275-75564275
2 ODAPH NM_001206981.2(ODAPH):c.173C>A (p.Ala58Asp) SNV Pathogenic 37217 rs1560562738 GRCh37: 4:76489385-76489385
GRCh38: 4:75564175-75564175
3 ODAPH NM_001206981.2(ODAPH):c.112-2A>T SNV Pathogenic 37218 rs1560562630 GRCh37: 4:76489322-76489322
GRCh38: 4:75564112-75564112
4 ODAPH NM_001206981.2(ODAPH):c.51_56delinsATGCTGGTTACTGGTA (p.Val18fs) Indel Pathogenic 37220 rs1560558455 GRCh37: 4:76481343-76481348
GRCh38: 4:75556133-75556138
5 ODAPH NM_178497.3(C4orf26):c.318G>A SNV Pathogenic 37219 rs146645381 GRCh37: 4:76489574-76489574
GRCh38: 4:75564364-75564364

Expression for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Search GEO for disease gene expression data for Amelogenesis Imperfecta, Hypomaturation Type, Iia4.

Pathways for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

GO Terms for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Sources for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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