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Amelogenesis imperfecta type 1G(AI1G)

MedGen UID:: 419162
•Concept ID:: C2931783
•: Disease or Syndrome

Synonyms:	Absent enamel, nephrocalcinosis and apparently normal calcium metabolism; AI1G; Amelogenesis imperfecta and gingival fibromatosis syndrome; Amelogenesis imperfecta and nephrocalcinosis; Amelogenesis imperfecta hypoplastic type, IG; Amelogenesis imperfecta nephrocalcinosis; AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND NEPHROCALCINOSIS; AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS; Amelogenesis imperfecta, type IG; Amelogenesis imperfecta-gingival hyperplasia syndrome; Enamel renal syndrome; ENAMEL-RENAL-GINGIVAL SYNDROME; Generalized enamel hypoplasia and renal dysfunction
SNOMED CT:	Enamel-renal syndrome (109477002); Amelogenesis imperfecta, nephrocalcinosis and impaired renal concentration (109477002); Enamel renal syndrome (109477002); Amelogenesis imperfecta and nephrocalcinosis (109477002); McGibbon Lubinsky syndrome (109477002)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	FAM20A (17q24.2)

Monarch Initiative:	MONDO:0008771
OMIM®:	204690
Orphanet:	ORPHA1031

Definition

Amelogenesis imperfecta and gingival fibromatosis syndrome is an autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth (Martelli-Junior et al., 2008). [from OMIM]

Clinical features

From HPO

Gingival fibromatosis

MedGen UID:: 42017
•Concept ID:: C0016049
•: Finding

The presence of fibrosis of the gingiva.

See: Feature record | Search on this feature

Enuresis

MedGen UID:: 8649
•Concept ID:: C0014394
•: Disease or Syndrome

Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.

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Nephrocalcinosis

MedGen UID:: 10222
•Concept ID:: C0027709
•: Disease or Syndrome

Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.

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Polyuria

MedGen UID:: 19404
•Concept ID:: C0032617
•: Sign or Symptom

An increased rate of urine production.

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Renal insufficiency

MedGen UID:: 332529
•Concept ID:: C1565489
•: Disease or Syndrome

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.

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Impaired renal concentrating ability

MedGen UID:: 395351
•Concept ID:: C1859819
•: Finding

A defect in the ability to concentrate the urine.

See: Feature record | Search on this feature

Overgrowth

MedGen UID:: 376550
•Concept ID:: C1849265
•: Finding

Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.

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Amelogenesis imperfecta

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

A developmental dysplasia of the dental enamel.

See: Feature record | Search on this feature

Gingival overgrowth

MedGen UID:: 87712
•Concept ID:: C0376480
•: Finding

Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.

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Delayed eruption of permanent teeth

MedGen UID:: 340353
•Concept ID:: C1849540
•: Finding

Delayed tooth eruption affecting the secondary dentition.

See: Feature record | Search on this feature

Dagger-shaped pulp calcifications

MedGen UID:: 870616
•Concept ID:: C4025067
•: Finding

Dagger-shaped calcifications in the dental pulp.

See: Feature record | Search on this feature

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Abnormality of head or neck
Abnormality of the genitourinary system
Abnormality of the musculoskeletal system
- Amelogenesis imperfecta
Growth abnormality
- Overgrowth
Neoplasm
- Gingival fibromatosis

Term Hierarchy

GTR
MeSH
Orphanet

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
        Amelogenesis imperfecta type 1G

Follow this link to review classifications for Amelogenesis imperfecta type 1G in Orphanet.

Professional guidelines

PubMed

AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.

Wang SK, Zhang H, Lin HC, Wang YL, Lin SC, Seymen F, Koruyucu M, Simmer JP, Hu JC
Int J Mol Sci 2024 Jun 1;25(11) doi: 10.3390/ijms25116132. PMID: 38892321 Free PMC Article

See all (1)

Recent clinical studies

Diagnosis

Mini-implant assisted palate expansion and digital design in junctional epidermolysis bullosa and amelogenesis imperfecta: Case report.

Véliz S, Olivares A, Krämer S
Spec Care Dentist 2024 Nov-Dec;44(6):1572-1580. Epub 2024 Jul 21 doi: 10.1111/scd.13044. PMID: 39034598

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977 Free PMC Article

Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.

Kantaputra P, Guven Y, Aksu B, Kalayci T, Doğan C, Intachai W, Olsen B, Tongsima S, Ngamphiw C, Noppakun K
J Am Dent Assoc 2022 Jul;153(7):668-676. Epub 2022 Mar 5 doi: 10.1016/j.adaj.2021.12.009. PMID: 35260236

See all (3)

Prognosis

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977 Free PMC Article

Molecular characterization of amelogenesis imperfecta in Chinese patients.

Song YL, Wang CN, Zhang CZ, Yang K, Bian Z
Cells Tissues Organs 2012;196(3):271-9. Epub 2012 Mar 13 doi: 10.1159/000334210. PMID: 22414746

See all (2)

Clinical prediction guides

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977 Free PMC Article

Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4.

Molecular characterization of amelogenesis imperfecta in Chinese patients.

Song YL, Wang CN, Zhang CZ, Yang K, Bian Z
Cells Tissues Organs 2012;196(3):271-9. Epub 2012 Mar 13 doi: 10.1159/000334210. PMID: 22414746

See all (3)

MedGen

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Amelogenesis imperfecta type 1G(AI1G)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

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