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Enamel-renal syndrome(AI1G)

MedGen UID:
419162
Concept ID:
C2931783
Disease or Syndrome
Synonyms: AI1G; Amelogenesis imperfecta and gingival fibromatosis syndrome; Amelogenesis imperfecta and nephrocalcinosis; Amelogenesis imperfecta hypoplastic type, IG; AMELOGENESIS IMPERFECTA, HYPOPLASTIC, AND NEPHROCALCINOSIS; AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS; AMELOGENESIS IMPERFECTA, TYPE IG; ENAMEL-RENAL-GINGIVAL SYNDROME
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Enamel-renal syndrome (109477002); Lubinsky syndrome (109477002); Amelogenesis imperfecta, nephrocalcinosis and impaired renal concentration (109477002); Enamel renal syndrome (109477002); Amelogenesis imperfecta and nephrocalcinosis (109477002); McGibbon Lubinsky syndrome (109477002)
 
Gene (location): FAM20A (17q24.2)
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

Enuresis
MedGen UID:
8649
Concept ID:
C0014394
Sign or Symptom
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.
Nephropathy
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
Your kidneys are two bean-shaped organs, each about the size of your fists. They are located near the middle of your back, just below the rib cage. Inside each kidney about a million tiny structures called nephrons filter blood. They remove waste products and extra water, which become urine. The urine flows through tubes called ureters to your bladder, which stores the urine until you go to the bathroom. . Most kidney diseases attack the nephrons. This damage may leave kidneys unable to remove wastes. Causes can include genetic problems, injuries, or medicines. You are at greater risk for kidney disease if you have diabetes, high blood pressure, or a close family member with kidney disease. Chronic kidney disease damages the nephrons slowly over several years. Other kidney problems include:. -Cancer. -Cysts. -Stones. -Infections. Your doctor can run tests to find out if you have kidney disease. If your kidneys fail completely, a kidney transplant or dialysis can replace the work your kidneys normally do. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Nephrocalcinosis
MedGen UID:
10222
Concept ID:
C0027709
Disease or Syndrome
A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Polyuria
MedGen UID:
19404
Concept ID:
C0032617
Sign or Symptom
An increased rate of urine production.
Renal failure syndrome
MedGen UID:
11177
Concept ID:
C0035078
Disease or Syndrome
Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
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.
Abnormality of calcium-phosphate metabolism
MedGen UID:
867642
Concept ID:
C4022031
Finding
Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Abnormality of dental enamel
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.
Hyperplasia of gingiva
MedGen UID:
4894
Concept ID:
C0017566
Pathologic Function
Hyperplasia of the gingiva (FMA:59762, 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.
Late tooth eruption
MedGen UID:
68678
Concept ID:
C0239174
Pathologic Function
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Overgrowth
MedGen UID:
376550
Concept ID:
C1849265
Finding
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
Delayed eruption of permanent teeth
MedGen UID:
340353
Concept ID:
C1849540
Finding
Delayed tooth eruption affecting the secondary dentition.
Abnormality of dental enamel
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.
Abnormality of dental color
MedGen UID:
869132
Concept ID:
C4023551
Finding
A developmental defect of tooth color.
Dagger-shaped pulp calcifications
MedGen UID:
870616
Concept ID:
C4025067
Finding
Dagger-shaped calcifications in the dental pulp.
Amelogenesis imperfecta
MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
A developmental dysplasia of the dental enamel.
Abnormality of dental enamel
MedGen UID:
867426
Concept ID:
C4021800
Anatomical Abnormality
An abnormality of the dental enamel.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEnamel-renal syndrome
Follow this link to review classifications for Enamel-renal syndrome in Orphanet.

Recent clinical studies

Etiology

de la Dure-Molla M, Quentric M, Yamaguti PM, Acevedo AC, Mighell AJ, Vikkula M, Huckert M, Berdal A, Bloch-Zupan A
Orphanet J Rare Dis 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84. [Epub ahead of print] PMID: 24927635Free PMC Article
Wang SK, Reid BM, Dugan SL, Roggenbuck JA, Read L, Aref P, Taheri AP, Yeganeh MZ, Simmer JP, Hu JC
J Dent Res 2014 Jan;93(1):42-8. Epub 2013 Nov 6 doi: 10.1177/0022034513512653. [Epub ahead of print] PMID: 24196488Free PMC Article

Diagnosis

Ashkenazi M, Rafe Z, Sarnat H, Levin L
Pediatr Dent 2014 May-Jun;36(3):250-3. PMID: 24960394
de la Dure-Molla M, Quentric M, Yamaguti PM, Acevedo AC, Mighell AJ, Vikkula M, Huckert M, Berdal A, Bloch-Zupan A
Orphanet J Rare Dis 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84. [Epub ahead of print] PMID: 24927635Free PMC Article
Kantaputra PN, Kaewgahya M, Khemaleelakul U, Dejkhamron P, Sutthimethakorn S, Thongboonkerd V, Iamaroon A
Am J Med Genet A 2014 Jan;164A(1):1-9. Epub 2013 Nov 20 doi: 10.1002/ajmg.a.36187. [Epub ahead of print] PMID: 24259279
Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC
PLoS Genet 2013;9(2):e1003302. Epub 2013 Feb 28 doi: 10.1371/journal.pgen.1003302. PMID: 23468644Free PMC Article
Fu XJ, Nozu K, Goji K, Ikeda K, Kamioka I, Fujita T, Kaito H, Nishio H, Iijima K, Matsuo M
Nephrol Dial Transplant 2006 Oct;21(10):2959-62. Epub 2006 Jun 24 doi: 10.1093/ndt/gfl328. [Epub ahead of print] PMID: 16799168

Prognosis

Wang SK, Reid BM, Dugan SL, Roggenbuck JA, Read L, Aref P, Taheri AP, Yeganeh MZ, Simmer JP, Hu JC
J Dent Res 2014 Jan;93(1):42-8. Epub 2013 Nov 6 doi: 10.1177/0022034513512653. [Epub ahead of print] PMID: 24196488Free PMC Article

Clinical prediction guides

de la Dure-Molla M, Quentric M, Yamaguti PM, Acevedo AC, Mighell AJ, Vikkula M, Huckert M, Berdal A, Bloch-Zupan A
Orphanet J Rare Dis 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84. [Epub ahead of print] PMID: 24927635Free PMC Article
Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, Daggag H, Baqain ZH, Hu JC
PLoS Genet 2013;9(2):e1003302. Epub 2013 Feb 28 doi: 10.1371/journal.pgen.1003302. PMID: 23468644Free PMC Article

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