MCID: AML024
MIFTS: 14

Amelogenesis Imperfecta, Type Iia1 malady

Genetic diseases (common) category

Aliases & Classifications for Amelogenesis Imperfecta, Type Iia1

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Amelogenesis Imperfecta, Type Iia1, Aliases & Descriptions:

Name: Amelogenesis Imperfecta, Type Iia1 45 10
 
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 45 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 204700

Summaries for Amelogenesis Imperfecta, Type Iia1

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OMIM:45 Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal... (204700) more...

MalaCards based summary: Amelogenesis Imperfecta, Type Iia1, is also known as amelogenesis imperfecta, hypomaturation type, iia1, and has symptoms including autosomal recessive inheritanceand amelogenesis imperfecta. An important gene associated with Amelogenesis Imperfecta, Type Iia1 is KLK4 (kallikrein-related peptidase 4).

Related Diseases for Amelogenesis Imperfecta, Type Iia1

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Symptoms for Amelogenesis Imperfecta, Type Iia1

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Symptoms by clinical synopsis from OMIM:

204700

Clinical features from OMIM:

204700

HPO human phenotypes related to Amelogenesis Imperfecta, Type Iia1:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 amelogenesis imperfecta HP:0000705

Drugs & Therapeutics for Amelogenesis Imperfecta, Type Iia1

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Drug clinical trials:

Search ClinicalTrials for Amelogenesis Imperfecta, Type Iia1

Search NIH Clinical Center for Amelogenesis Imperfecta, Type Iia1

Genetic Tests for Amelogenesis Imperfecta, Type Iia1

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Genetic tests related to Amelogenesis Imperfecta, Type Iia1:

id Genetic test Affiliating Genes
1 Amelogenesis Imperfecta, Hypomaturation Type, Iia120 22 KLK4

Anatomical Context for Amelogenesis Imperfecta, Type Iia1

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Animal Models for Amelogenesis Imperfecta, Type Iia1 or affiliated genes

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Publications for Amelogenesis Imperfecta, Type Iia1

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Variations for Amelogenesis Imperfecta, Type Iia1

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Expression for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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Search GEO for disease gene expression data for Amelogenesis Imperfecta, Type Iia1.

Pathways for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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Compounds for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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GO Terms for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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Products for genes affiliated with Amelogenesis Imperfecta, Type Iia1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Amelogenesis Imperfecta, Type Iia1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet