Biomaterial Database

The premature aging syndromes. 1996

K Pesce, and M J Rothe

Division of Dermatology, University of Connecticut Health Center, Farmington, USA.

UI	MeSH Term	Description	Entries
D011038	Rothmund-Thomson Syndrome	An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.	Poikiloderma Congenitale,Congenital Poikiloderma,Poikiloderma Atrophicans and Cataract,Poikiloderma Congenitale of Rothmund-Thomson,Poikiloderma of Rothmund-Thomson,Congenitale, Poikiloderma,Congenitales, Poikiloderma,Poikiloderma Congenitales,Poikiloderma of Rothmund Thomson,Rothmund Thomson Syndrome,Rothmund-Thomson Poikiloderma,Rothmund-Thomson Poikilodermas,Syndrome, Rothmund-Thomson
D011371	Progeria	An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature graying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.	Hutchinson-Gilford Syndrome,Hutchinson Gilford Progeria Syndrome,Hutchinson-Gilford Progeria Syndrome,Hutchinson Gilford Syndrome,Hutchinson-Gilford Progeria Syndromes,Progeria Syndrome, Hutchinson-Gilford,Progeria Syndromes, Hutchinson-Gilford
D003057	Cockayne Syndrome	A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.	Progeria-Like Syndrome,Cockayne Syndrome Type 3,Cockayne Syndrome Type C,Cockayne Syndrome, Group A,Cockayne Syndrome, Group B,Cockayne Syndrome, Group C,Cockayne Syndrome, Type A,Cockayne Syndrome, Type B,Cockayne Syndrome, Type C,Cockayne Syndrome, Type I,Cockayne Syndrome, Type II,Cockayne Syndrome, Type III,Dwarfism-Retinal Atrophy-Deafness Syndrome,Group A Cockayne Syndrome,Group B Cockayne Syndrome,Group C Cockayne Syndrome,Progeroid Nanism,Type A Cockayne Syndrome,Type B Cockayne Syndrome,Type C Cockayne Syndrome,Type I Cockayne Syndrome,Type II Cockayne Syndrome,Type III Cockayne Syndrome,Progeria Like Syndrome,Progeria-Like Syndromes,Syndrome, Cockayne,Syndrome, Progeria-Like
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000375	Aging	The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.	Senescence,Aging, Biological,Biological Aging
D001260	Ataxia Telangiectasia	An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).	Louis-Bar Syndrome,Ataxia Telangiectasia Syndrome,Ataxia-Telangiectasia,Telangiectasia, Cerebello-Oculocutaneous,Louis Bar Syndrome,Syndrome, Ataxia Telangiectasia,Syndrome, Louis-Bar
D001284	Atrophy	Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.	Atrophies
D012867	Skin	The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes
D014898	Werner Syndrome	An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.	Progeria, Adult,Adult Premature Aging Syndrome,Adult Progeria,Werner's Syndrome,Werners Syndrome,Syndrome, Werner,Syndrome, Werner's,Syndrome, Werners