U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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).
 
Gene (location): 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.
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.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
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.
Impaired renal concentrating ability
MedGen UID:
395351
Concept ID:
C1859819
Finding
A defect in the ability to concentrate the urine.
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.
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.
Delayed eruption of permanent teeth
MedGen UID:
340353
Concept ID:
C1849540
Finding
Delayed tooth eruption affecting the secondary dentition.
Dagger-shaped pulp calcifications
MedGen UID:
870616
Concept ID:
C4025067
Finding
Dagger-shaped calcifications in the dental pulp.

Professional guidelines

PubMed

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: 38892321Free PMC Article

Recent clinical studies

Diagnosis

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: 37985977Free PMC Article
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

Prognosis

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: 37985977Free PMC Article
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

Clinical prediction guides

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: 37985977Free PMC Article
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...