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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.
 
Gene (location): 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.
Enamel hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
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.
Yellow-brown discoloration of the teeth
MedGen UID:
350813
Concept ID:
C1863008
Finding

Recent clinical studies

Diagnosis

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