Phakomatoses, not elsewhere classified (Q85)
Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
Other congenital malformations (Q80-Q89)
- Q85 - Phakomatoses, not elsewhere classified NON-BILLABLE CODE
- Q85.0 - Neurofibromatosis (nonmalignant) NON-BILLABLE CODE
- Q85.00 - Neurofibromatosis, unspecified BILLABLE CODE
- Q85.01 - Neurofibromatosis, type 1 BILLABLE CODE
- Q85.02 - Neurofibromatosis, type 2 BILLABLE CODE
- Q85.03 - Schwannomatosis BILLABLE CODE
- Q85.09 - Other neurofibromatosis BILLABLE CODE
- Q85.1 - Tuberous sclerosis BILLABLE CODE
- Q85.8 - Other phakomatoses, not elsewhere classified NON-BILLABLE CODE NEW CODE
- Q85.81 - PTEN tumor syndrome BILLABLE CODE NEW CODE
- Q85.82 - Other Cowden syndrome BILLABLE CODE NEW CODE
- Q85.83 - Von Hippel-Lindau syndrome BILLABLE CODE NEW CODE
- Q85.89 - Other phakomatoses, not elsewhere classified BILLABLE CODE NEW CODE
- Q85.9 - Phakomatosis, unspecified BILLABLE CODE
Phakomatoses, not elsewhere classified (Q85)
Clinical Information for Phakomatoses, not elsewhere classified (Q85)
Tuberous Sclerosis - Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Tuberous Sclerosis Complex 1 Protein - An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 2 PROTEIN (TSC2) and other signaling factors to negatively regulate MTORC1 signaling and affect cell growth and proliferation. Structurally, it interacts with TSC2 through its N-terminal, which also contains GSK-3BETA phosphorylation sites and a RHO-KINASE activation domain. It also contains a C-terminal coiled-coil domain and ezrin-radixin-moesin (ERM) domain. Mutations in the TSC1 gene are associated with TUBEROUS SCLEROSIS.
Tuberous Sclerosis Complex 2 Protein - An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN (TSC1) and other signaling factors to negatively regulate MTORC1 and affect cell growth and proliferation. It can also function as GTPASE-ACTIVATING PROTEIN (GAP) for RHEB GTPASE to activate mTORC1 independent of its role in the complex. Structurally, it interacts with TSC1 through its N-terminus, which also contains a leucine zipper and coiled-coil region. It also has multiple phosphorylation sites for different cell signaling kinases, a central coiled-coil region, a C-terminal GAP domain and CALMODULIN binding domain. Mutations in the TSC2 gene are associated with TUBEROUS SCLEROSIS.
Proteus Syndrome - Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
Hamartoma - A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area.
Hamartoma Syndrome, Multiple - A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
Peutz-Jeghers Syndrome - A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Angiofibroma - A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)