AI2A4
MCID: AML039
MIFTS: 17

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 40 73
Ai2a4 57 12 75
Amelogenesis Imperfecta, Hypomaturation Type Iia4 29 6
Amelogenesis Imperfecta Pigmented Hypomaturation Type Iia4 75
Amelogenesis Imperfecta, Hypomaturation Type, 2a4 75
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
Inheritance:
autosomal recessive


HPO:

32
amelogenesis imperfecta, hypomaturation type, iia4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614832
Disease Ontology 12 DOID:0110062
ICD10 33 K00.5
MeSH 44 D000567
UMLS 73 C3553830

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 614832

Related Diseases for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Symptoms & Phenotypes for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 32 HP:0000705
2 hypoplasia of dental enamel 32 HP:0006297
3 hypomineralization of enamel 32 HP:0006285

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

Variations for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ODAPH NG_032974.1: g.13228C> T single nucleotide variant Pathogenic rs866941536 GRCh37 Chromosome 4, 76489485: 76489485
2 ODAPH NG_032974.1: g.13228C> T single nucleotide variant Pathogenic rs866941536 GRCh38 Chromosome 4, 75564275: 75564275
3 ODAPH NG_032974.1: g.13128C> A single nucleotide variant Pathogenic GRCh38 Chromosome 4, 75564175: 75564175
4 ODAPH NG_032974.1: g.13128C> A single nucleotide variant Pathogenic GRCh37 Chromosome 4, 76489385: 76489385
5 ODAPH NG_032974.1: g.13065A> T single nucleotide variant Pathogenic GRCh37 Chromosome 4, 76489322: 76489322
6 ODAPH NG_032974.1: g.13065A> T single nucleotide variant Pathogenic GRCh38 Chromosome 4, 75564112: 75564112
7 ODAPH NM_178497.3(C4orf26): c.318G> A single nucleotide variant Pathogenic rs146645381 GRCh37 Chromosome 4, 76489574: 76489574
8 ODAPH NM_178497.3(C4orf26): c.318G> A single nucleotide variant Pathogenic rs146645381 GRCh38 Chromosome 4, 75564364: 75564364
9 ODAPH NG_032974.1: g.5086_5091delGGTAACinsATGCTGGTTACTGGTA indel Pathogenic GRCh38 Chromosome 4, 75556133: 75556138
10 ODAPH NG_032974.1: g.5086_5091delGGTAACinsATGCTGGTTACTGGTA indel Pathogenic GRCh37 Chromosome 4, 76481343: 76481348

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 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
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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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