Create issue ticket

56 Possible Causes for Absent Pulp Chambers, Mutation in the FAM20A Gene, Yellow-Brown Discoloration of the Teeth

  • Amelogenesis imperfecta Type 1C

    . shape and size of crown and root are relatively normal density, obliteration of pulp chamber presence of periapical radiolucency without pulpal involvement Gingival Health[de.slideshare.net] discoloration of the teeth Associated Genes ENAM (Withdrawn symbols: AIH2 ) Mouse Orthologs Enam (Withdrawn symbols: abte ) Source OMIM:204650 (names, synonyms, disease associated[mousephenotype.org] The currently known genes associated with this phenotype include AMELX , ENAM , LAMB3 , and FAM20A .[pocketdentistry.com]

  • Amelogenesis Imperfecta Type 1G with Nephrocalcinosis

    discoloration of the teeth Delayed eruption of permanent teeth Anterior open bite Enuresis nocturna Abnormality of dental color Abnormality of calcium-phosphate metabolism[mendelian.co] […] in the FAM20A gene on chromosome 17q24.[malacards.org] […] phenotypes are gingival overgrowth and renal insufficiency Disease Ontology : 12 An amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation[malacards.org]

    Missing: Absent Pulp Chambers
  • Amelogenesis Imperfecta Type 1E

    In general, symptoms include: smaller-than-normal teeth yellow or brown discoloration of the teeth teeth that are prone to damage and breakage sensitive teeth open bite malocclusion[healthline.com] Amelogenesis imperfecta is also inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM, MMP20, KLK4, FAM20A, C4orf26[en.wikipedia.org] In all three types of DI, the teeth have a variable blue-gray to yellow-brown discoloration that appears opalescent because of the defective, abnormally colored dentin shining[mchoralhealth.org]

    Missing: Absent Pulp Chambers
  • Dentinogenesis Imperfecta Type 1

    […] root canals Absent root tooth Amber colored teeth Misaligned teeth Recurring dental abscess Blue sclera Enamel separation from the ivory Very small pulp chambers Very small[medicalsubstance.com] In general, symptoms include: smaller-than-normal teeth yellow or brown discoloration of the teeth teeth that are prone to damage and breakage sensitive teeth open bite malocclusion[healthline.com] This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent.[diseaseinfosearch.org]

    Missing: Mutation in the FAM20A Gene
  • Kohlschütter-Tönz Syndrome

    discoloration of the teeth Yellow-brown discolored teeth 0006286 30%-79% of people have these symptoms Hypohidrosis Decreased ability to sweat Decreased sweating Sweating[rarediseases.info.nih.gov] […] retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Seizures Seizure 0001250 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Yellow-brown[rarediseases.info.nih.gov]

    Missing: Absent Pulp Chambers Mutation in the FAM20A Gene
  • Uremia

    In ERS patients, the teeth present with yellow-brown discolorations.[tandfonline.com] ERS seems to be associated with recessive mutations in FAM20A, which is a gene that is normally expressed by osteoblasts, ameloblasts (during the secretion stage), and odontoblasts[tandfonline.com]

    Missing: Absent Pulp Chambers
  • Amelogenesis Imperfecta

    In general, symptoms include: smaller-than-normal teeth yellow or brown discoloration of the teeth teeth that are prone to damage and breakage sensitive teeth open bite malocclusion[healthline.com] […] and identified a homozygous mutation in the FAM20A gene (c.34_35delCT), already reported in a family with this syndrome.[ncbi.nlm.nih.gov] Both the primary and permanent dentitions in the proband and sibling (ages 9 and 10 years) were similarly affected showing a yellow brown discoloration (fig 1B).[doi.org]

    Missing: Absent Pulp Chambers
  • Amelo-Onycho-Hypohidrotic Syndrome

    : hypocalicifed-hypoplastic enamel yellow-brown tooth discoloration marked delay in eruption of permanent teeth Skin Nails Hair Nails: onycholysis Skin Nails Hair Hair: normal[malacards.org] discoloration of the teeth Yellow-brown discolored teeth 0006286 30%-79% of people have these symptoms Abnormality of dental morphology Abnormality of dental shape Abnormally[rarediseases.info.nih.gov] ) HP:0001231 5 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682 6 onycholysis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001806 7 yellow-brown[malacards.org]

    Missing: Absent Pulp Chambers Mutation in the FAM20A Gene
  • Jalili Syndrome

    Appearance of the teeth in the two affected brothers. ( A - C ): Yellow-brown discolored primary teeth of the elder boy at the age of 6 years; white arrow points at the maxillary[journals.plos.org] Little is known about the consequences of mutations in FAM20A gene.[bmcoralhealth.biomedcentral.com] At the time of eruption, the pulp chambers of the permanent molars appeared rather large ( Figure 1-E ), but once teeth had arrived in occlusion, the size of the pulp cavities[journals.plos.org]

    Missing: Absent Pulp Chambers
  • Premature Tooth Eruption

    However, dental radiographs will indicate the enamel and pulp chamber changes already mentioned.[pocketdentistry.com] Tooth discoloration – In preemie babies who had very high bilirubin levels (jaundice) in the NICU, a preemie baby’s teeth can grow in with yellow or brown discoloration which[monbaby.com] A yellow or brown color is seen only on the primary teeth and cannot be removed by brushing or having them cleaned by the dentist.[prematurity.org]

    Missing: Mutation in the FAM20A Gene