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Amelogenesis imperfecta - hypoplastic autosomal dominant - local(AI1B)

MedGen UID:: 97993
•Concept ID:: C0399368
•: Disease or Syndrome

Synonyms:	AI1B; Amelogenesis imperfecta type 1B; Amelogenesis Imperfecta, Type IB; ENAMEL HYPOPLASIA, HEREDITARY LOCALIZED
SNOMED CT:	Amelogenesis imperfecta - hypoplastic autosomal dominant - local (234961008)

Gene (location): Gene(s) directly associated with this condition or phenotype.	ENAM (4q13.3)

Monarch Initiative:	MONDO:0007092
OMIM®:	104500

Definition

Amelogenesis imperfecta type IB (AI1B) is an autosomal dominant disorder of tooth enamel biomineralization resulting in enamel hypoplasia (summary by Brookes et al., 2017). [from OMIM]

Additional description

From MedlinePlus Genetics
Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.

Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body. https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta

Clinical features

From HPO

Amelogenesis imperfecta

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

A developmental dysplasia of the dental enamel.

See: Feature record | Search on this feature

Abnormality of the musculoskeletal system
- Amelogenesis imperfecta

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAmelogenesis imperfecta

Abnormality of the musculoskeletal system
- Abnormality of connective tissue
  - Abnormal odontoid tissue morphology
    - Abnormal dental enamel morphology
      - Amelogenesis imperfecta
        Amelogenesis imperfecta type 1
        Amelogenesis imperfecta - hypoplastic autosomal dominant - local

Recent clinical studies

Etiology

The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation.

Shore RC, Bäckman B, Elcock C, Brook AH, Brookes SJ, Kirkham J
Cells Tissues Organs 2010;191(4):301-6. Epub 2009 Nov 14 doi: 10.1159/000258703. PMID: 19923784

Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta.

Hart PS, Wright JT, Savage M, Kang G, Bensen JT, Gorry MC, Hart TC
Eur J Oral Sci 2003 Aug;111(4):326-31. doi: 10.1034/j.1600-0722.2003.00046.x. PMID: 12887398

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.

Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ
Hum Mol Genet 2001 Aug 1;10(16):1673-7. doi: 10.1093/hmg/10.16.1673. PMID: 11487571

Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21.

Kärrman C, Bäckman B, Dixon M, Holmgren G, Forsman K
Genomics 1997 Jan 15;39(2):164-70. doi: 10.1006/geno.1996.4485. PMID: 9027503

Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4Q.

Kärrman C, Bäckman B, Holmgren G, Forsman K
Arch Oral Biol 1996 Aug-Sep;41(8-9):893-900. doi: 10.1016/s0003-9969(96)00010-6. PMID: 9022927

See all (7)

Diagnosis

The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation.

Shore RC, Bäckman B, Elcock C, Brook AH, Brookes SJ, Kirkham J
Cells Tissues Organs 2010;191(4):301-6. Epub 2009 Nov 14 doi: 10.1159/000258703. PMID: 19923784

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E
J Med Genet 2003 Dec;40(12):900-6. doi: 10.1136/jmg.40.12.900. PMID: 14684688 Free PMC Article

See all (2)

Prognosis

The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation.

Shore RC, Bäckman B, Elcock C, Brook AH, Brookes SJ, Kirkham J
Cells Tissues Organs 2010;191(4):301-6. Epub 2009 Nov 14 doi: 10.1159/000258703. PMID: 19923784

See all (1)

Clinical prediction guides

The structure and composition of deciduous enamel affected by local hypoplastic autosomal dominant amelogenesis imperfecta resulting from an ENAM mutation.

Shore RC, Bäckman B, Elcock C, Brook AH, Brookes SJ, Kirkham J
Cells Tissues Organs 2010;191(4):301-6. Epub 2009 Nov 14 doi: 10.1159/000258703. PMID: 19923784

Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.

Pavlic A, Petelin M, Battelino T
Arch Oral Biol 2007 Mar;52(3):209-17. Epub 2006 Nov 27 doi: 10.1016/j.archoralbio.2006.10.010. PMID: 17125728

Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta.

Nusier M, Yassin O, Hart TC, Samimi A, Wright JT
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004 Feb;97(2):220-30. doi: 10.1016/j.tripleo.2003.08.007. PMID: 14970781

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.

Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ
Hum Mol Genet 2001 Aug 1;10(16):1673-7. doi: 10.1093/hmg/10.16.1673. PMID: 11487571

Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta.

Chosack A, Eidelman E, Wisotski I, Cohen T
Oral Surg Oral Med Oral Pathol 1979 Feb;47(2):148-56. doi: 10.1016/0030-4220(79)90170-1. PMID: 284277

See all (5)

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Amelogenesis imperfecta - hypoplastic autosomal dominant - local(AI1B)

Definition

Additional description

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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