Dentinogenesis imperfecta type 3- MedGen UID:
- 97995
- •Concept ID:
- C0399378
- •
- Congenital Abnormality
Dentinogenesis imperfecta, Shields type III (DGI-III) is an autosomal dominant disorder of dentin formation. DGI presents clinically with gray to brownish-blue discoloration of the teeth and rapid attrition of the crowns, which are bulbous. There are no skeletal manifestations. Both deciduous and permanent teeth are affected (summary by MacDougall et al., 1999).
Tuberous sclerosis 1- MedGen UID:
- 344288
- •Concept ID:
- C1854465
- •
- Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Tuberous sclerosis 2- MedGen UID:
- 348170
- •Concept ID:
- C1860707
- •
- Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Epidermolysis bullosa, junctional 4, intermediate- MedGen UID:
- 382015
- •Concept ID:
- C2608084
- •
- Disease or Syndrome
Amelogenesis imperfecta type 1A- MedGen UID:
- 859840
- •Concept ID:
- C4011403
- •
- Disease or Syndrome
Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see Witkop, 1989).
Amelogenesis imperfecta type 1H- MedGen UID:
- 863994
- •Concept ID:
- C4015557
- •
- Disease or Syndrome
Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored (Wang et al., 2014 and Poulter et al., 2014).
Amelogenesis imperfecta type 1F- MedGen UID:
- 898597
- •Concept ID:
- C4225394
- •
- Disease or Syndrome
Amelogenesis imperfecta type IF (AI1F) is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness (Poulter et al. (2014)).