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 58 13 41 74
Ai2a4 58 12 76
Amelogenesis Imperfecta, Hypomaturation Type Iia4 30 6
Amelogenesis Imperfecta Pigmented Hypomaturation Type Iia4 76
Amelogenesis Imperfecta, Hypomaturation Type, 2a4 76
Amelogenesis Imperfecta Hypomaturation Type Iia4 12
Amelogenesis Imperfecta Hypomaturation Type 2a4 12
Amelogenesis Imperfecta, Type Iia4 58
Amelogenesis Imperfecta Type Iia4 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
amelogenesis imperfecta, hypomaturation type, iia4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110062
OMIM 58 614832
MeSH 45 D000567
ICD10 34 K00.5
UMLS 74 C3553830

Summaries for Amelogenesis Imperfecta, Hypomaturation Type, Iia4

UniProtKB/Swiss-Prot : 76 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

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

33
# Description HPO Frequency HPO Source Accession
1 amelogenesis imperfecta 33 HP:0000705
2 hypoplasia of dental enamel 33 HP:0006297
3 hypomineralization of enamel 33 HP:0006285

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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 NM_001206981.1(ODAPH): c.273C> T (p.His91=) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 76489485: 76489485
2 ODAPH NM_001206981.1(ODAPH): c.273C> T (p.His91=) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 75564275: 75564275
3 ODAPH NM_001206981.1(ODAPH): c.173C> A (p.Ala58Asp) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 75564175: 75564175
4 ODAPH NM_001206981.1(ODAPH): c.173C> A (p.Ala58Asp) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 76489385: 76489385
5 ODAPH NM_001206981.1(ODAPH): c.112-2A> T single nucleotide variant Pathogenic GRCh37 Chromosome 4, 76489322: 76489322
6 ODAPH NM_001206981.1(ODAPH): c.112-2A> 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 NM_001206981.1(ODAPH): c.51_56delGGTAACinsATGCTGGTTACTGGTA (p.Val18Cysfs) indel Pathogenic GRCh38 Chromosome 4, 75556133: 75556138
10 ODAPH NM_001206981.1(ODAPH): c.51_56delGGTAACinsATGCTGGTTACTGGTA (p.Val18Cysfs) 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 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
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41 LOVD
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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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