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Charcot-Marie-Tooth disease type 4C

Locus: 5q23-q33

Keywords

Agents

• Autoantibodies (1)
• Bacterias (22)
• Chemical agents (7)
• clinicobiological syndrome (1)
• Fungi (11)
• Helminths (6)
• Hypomethylated in tumors (1)
• Infectious agents (129)
• Infectious process (1)
• Insects (1)
• Nematodes (1)
• Parasites (18)
• Physical agents (3)
• Protozoans (3)
• Toxins (4)
• Vectors (3)
• Virus (30)

Banner types

• Head banner (2)
• Sidebar banner (4)

Clinical

• Biological sign (2)
• Biological syndromes (7)
• Clinical signs (4)
• Clinical syndromes (49)
• Clinicobiological syndrome (2)
• Functional signs (2)
• Medical procedure (5)
• Radiologic anomalies (2)
• Surgical procedures (4)

Cytogenetics

• Cancer loci (1)
• Carcinoma-associated translocations (2)
• Chromosomal anomalies (24)
• Chromosomal lesions (2)
• Fragile sites (2)
• Gene amplification (1)
• Leukemia-associated translocations (3)
• Regional amplifications (5)
• Sarcoma-associated translocations (2)
• Tumoral chromosomal anomalies (13)

Disease

• Association (1)
• Disease (1038)
• Disease group (age related) (4)
• Disease group (etiology) (102)
• Disease group (localization) (32)
• Disease group (mechanisms) (29)
• Disease group (molecular) (30)
• Disease group (semiology) (15)
• Disease localization (137)
• Disease subtype (25)
• Group of diseases (191)
• Pediatric diseases (4)

Diseases (Etiology)

• Allograft rejection (1)
• Chromosomal diseases (14)
• Complex disease (3)
• Drug-induced diseases (2)
• Environnemental diseases (1)
• Etiology unknown (3)
• Fungal diseases (1)
• Infectious diseases (106)
• Microdeletion syndrome (2)
• Monogenic disease (426)
• Multifactorial diseases (3)
• Multigenic disease (2)
• Parasitic disease (4)
• Senescence (3)
• Toxic diseases (1)
• Tumoral diseases (3)
• Unknown etiology (13)
• Viral diseases (3)

General

• Administration (5)
• Biographies (14)
• Case studies (1)
• Companies (1)
• Concept (61)
• Contributors (1)
• En cours (10)
• Field (40)
• History (3)
• Journal (41)
• Macroscopy (3)
• Medical education (11)
• Pediatric pathology (4)
• Project (2)
• Resident course (7)
• Society (1)
• Student course (8)
• Synopsis (2)
• Technique (125)
• Terminology (1)
• Therapeutics (2)
• Website (10)

Malformations

• Deformations (41)
• Developmental anomaly (4)
• Disruptions (2)
• Dysmorphology (54)
• Fetal anomalies (15)
• Malformation localization (1)
• Malformation subtype (5)
• Malformations (306)
• Malformative associations (19)
• Malformative disease (1)
• Malformative groups (80)
• Malformative lesions (19)
• Malformative sequences (6)
• Malformatives syndromes (38)
• Tissular malformations (36)
• Vascular malformations (3)
• Visceral malformations (33)

Molecular

• amino acids (5)
• Carbohydrates (7)
• Chemical element (3)
• Developmental pathways (1)
• Genes (6)
• Genomic anomalies (3)
• Glycosaminoglycans (3)
• Ions (3)
• Lipids (17)
• Metabolic pathways (11)
• miRNAs (3)
• Molecualr anomalies (1)
• Molecular anatomy (1)
• Molecular complex (11)
• Molecular function (51)
• Molecular groups (93)
• Molecular lesions (9)
• Molecular medicine (41)
• Molecular processes (39)
• Molecular structure (5)
• Molecules (95)
• Nucleic acids (33)
• Proteoglycans (1)
• References (2)
• Signaling pathways (33)

Morphological anomalies

• Artefact (1)
• Cellular anomalies (7)
• Cellular lesions (35)
• Cyst (1)
• Lesional group (108)
• Lesional syndrome (416)
• Macroscopical anomaly (49)
• Macroscopical lesions (296)
• Macroscopical syndromes (14)
• Microscopical anomaly (2)
• Microscopical lesions (230)
• Pathogenesis (1)
• Pathological cells (8)
• Pathological processes (46)
• Procedures (1)
• Tissular anomaly (25)
• Tissular lesions (134)
• Ultrastructural lesions (5)

Pathological groups

• etiological (1)
• functional (1)
• local (1)
• molecular (1)

Physiological

• Anatomical component (76)
• Cell subtype (1)
• Cell subtypes (24)
• Cells (84)
• Cellular components (100)
• Cellular functions (88)
• Cellular groups (14)
• Cellular processes (26)
• Cellular systems (4)
• Chromosomal regions (9)
• Chromosomes (3)
• Developmental processes (82)
• Developmental structures (32)
• Fetal organs (48)
• Individuals (2)
• Organ components (98)
• Organ functions (8)
• Organs (48)
• Regions (12)
• System component (3)
• Systemic functions (15)
• Systemic processes (1)
• Systems (13)
• Tissues (9)
• Tissular components (111)
• Tissular functions (23)
• Tissular processes (3)

Physiopathological pathways

• Atopia - Allergy (1)
• Autoimmune diseases (8)
• Connective tissue diseases (1)
• Dysfunctional diseases (15)
• Dysimmune diseases (26)
• Endocrine disease (6)
• Immunodeficiency (31)
• Infection predisposition (1)
• Inflammatory diseases (13)
• Malformative diseases (75)
• Metabolic disease (112)
• Neurodegenerative disease (8)
• Toxic diseases (4)
• Tumoral diseases (13)
• Tumoral predisposition (14)
• Vascular diseases (8)

Proteins

• Activated in tumors (7)
• Amplified in tumors (25)
• Autoimmunity targets (8)
• Biomarkers (1)
• Cancer gene (123)
• CDs (16)
• Deleted in human disease (1)
• Diagnostic antibodies (2)
• Druggable (2)
• Functional proteic groups (45)
• Fusion proteins (50)
• Human evolution (2)
• Hypermethylated in tumors (1)
• IHC marker (30)
• Inactivated in tumors (14)
• Involved in translocations (137)
• Malformation genes (38)
• Mutant protein (4)
• Mutated in human diseases (606)
• Mutated in tumors (20)
• Overexpressed in tumors (38)
• Proteic complexes (64)
• Proteic domains (2)
• Protein family (305)
• Protein groups (56)
• Protein subfamily (3)
• Protein superfamilies (62)
• Proteins (1521)
• Putative cancer genes (3)
• Tumor suppressor protein (47)
• Underexpressed in tumors (5)
• Variants in disease predisposition (51)

Therapeutics

• Drugs (31)
• Group of drugs (1)
• Small molecule (2)
• Targeted therapy (2)
• Therapeutic monoclonal antibodies (1)
• Therapeutics (15)

Tumors

• Architectural pattern (16)
• Benign tumors (7)
• Carcinomas (12)
• Cytological pattern (4)
• Leukemias (13)
• Lymphomas (2)
• Malignant tumors (10)
• Multigenic tumorigenesis (3)
• Orphan tumors (15)
• Pediatric tumors (17)
• Rare tumors (1)
• Sarcomas (3)
• Sof tissue tumor (23)
• Translocation-associated tumors (24)
• Tumor (570)
• Tumoral cells (5)
• Tumoral groups (272)
• Tumoral localization (234)
• Tumoral subtypes (198)

Videos

• Biology videos (141)
• Endoscopy videos (21)
• Histology videos (111)
• Histopathology videos (123)
• Laparoscopy videos (1)
• Physiopathology videos (3)
• Tumoral predisposition (7)

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