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Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism(AIHHT; AI4)

MedGen UID:: 350816
•Concept ID:: C1863012
•: Disease or Syndrome

Synonym:	Amelogenesis imperfecta, type IV
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	DLX3 (17q21.33)

Monarch Initiative:	MONDO:0007093
OMIM®:	104510
Orphanet:	ORPHA100034

Definition

Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene. [from MONDO]

Clinical features

From HPO

Amelogenesis imperfecta

MedGen UID:: 240
•Concept ID:: C0002452
•: Congenital Abnormality

A developmental dysplasia of the dental enamel.

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Enamel hypoplasia

MedGen UID:: 3730
•Concept ID:: C0011351
•: Disease or Syndrome

Developmental hypoplasia of the dental enamel.

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Taurodontism

MedGen UID:: 75596
•Concept ID:: C0266039
•: Disease or Syndrome

Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.

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Yellow-brown discoloration of the teeth

MedGen UID:: 350813
•Concept ID:: C1863008
•: Finding

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Abnormality of head or neck
Abnormality of the musculoskeletal system
- Amelogenesis imperfecta

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAmelogenesis imperfecta

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of connective tissue
    - Abnormal odontoid tissue morphology
      - Abnormal dental enamel morphology
        Amelogenesis imperfecta
        Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Recent clinical studies

Diagnosis

Interradicular dentin dysplasia associated with amelogenesis imperfecta with taurodontism or trichodentoosseous syndrome: a diagnostic dilemma.

Hegde V, Srikanth K
Indian J Dent Res 2014 Mar-Apr;25(2):269-71. doi: 10.4103/0970-9290.135942. PMID: 24992867

Severely hypoplastic amelogenesis imperfecta with taurodontism.

Pavlic A, Lukinmaa PL, Nieminen P, Kiukkonen A, Alaluusua S
Int J Paediatr Dent 2007 Jul;17(4):259-66. doi: 10.1111/j.1365-263X.2007.00827.x. PMID: 17559453

Taurodontism of the mandibular first permanent molar distinguishes between the tricho-dento-osseous (TDO) syndrome and amelogenesis imperfecta.

Seow WK
Clin Genet 1993 May;43(5):240-6. doi: 10.1111/j.1399-0004.1993.tb03810.x. PMID: 8375104

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Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism(AIHHT; AI4)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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