Amelogenesis imperfecta, hypomaturation type, iia1

Preferred Label : Amelogenesis imperfecta, hypomaturation type, iia1;

Symbol : AI2A1;

CISMeF acronym : AI2A1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amelogenesis imperfecta, pigmented hypomaturation type, 1;

Description : Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kallikrein-4 gene (KLK4, 603767.0001);

Prefixed ID : #204700;

Détails

Origin ID

204700;

UMLS CUI

C2673922;

Broader ORDO disease(s)
- Hypomaturation amelogenesis imperfecta [ORDO Disease]
CISMeF manual mappings
- amelogenesis imperfecta type 2A1 [DO Concept]
Currated CISMeF NLP mapping
- amelogenesis imperfecta, hypomaturation type, Iia1 [MeSH concept]
- amelogenesis imperfecta, hypomaturation type, Iia1 [MeSH Supplementary Concept]
DO Cross reference
- amelogenesis imperfecta type 2A1 [DO Concept]
Genes related to phenotype
- Kallikrein-related peptidase 4 [OMIM gene]
HPO term(s)
- Abnormal dental enamel morphology [HPO term]
- Amelogenesis imperfecta [HPO term]
- Anterior open-bite malocclusion [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
ORDO concept(s)
- Amelogenesis imperfecta [ORDO Disease]
- Hypomaturation amelogenesis imperfecta [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- amelogenesis imperfecta type 2A1 [DO Concept]
- amelogenesis imperfecta, hypomaturation type, Iia1 [MeSH Supplementary Concept]
- amelogenesis imperfecta, hypomaturation type, Iia1 [MeSH concept]

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