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Familial Partial Lipodystrophy
Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat. As the body is unable to store fat correctly this leads to fat around all the vital organs and in the blood (triglycerides). This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications. Types Presentation Type 1 is believed to be underdiagnosed. Genetics A mutations in a number of genes have been associated with this condition. Mutations associated with FPL have been reported in ''LMNA'' (lamin A/C), ''PPARG'' (PPARγ), ''AKT2'' (AKT serine/threonine kinase 2), ''PLIN1'' (perilipin-1), and '' CIDEC'' (cell-death-induc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Subcutaneous Tissues
The subcutaneous tissue (), also called the hypodermis, hypoderm (), subcutis, superficial fascia, is the lowermost layer of the integumentary system in vertebrates. The types of cells found in the layer are fibroblasts, adipose cells, and macrophages. The subcutaneous tissue is derived from the mesoderm, but unlike the dermis, it is not derived from the mesoderm's dermatome region. It consists primarily of loose connective tissue, and contains larger blood vessels and nerves than those found in the dermis. It is a major site of fat storage in the body. In arthropods, a hypodermis can refer to an epidermal layer of cells that secretes the chitinous cuticle. The term also refers to a layer of cells lying immediately below the epidermis of plants. Structure * Fibrous bands anchoring the skin to the deep fascia * Collagen and elastin fibers attaching it to the dermis * Fat is absent from the eyelids, clitoris, penis, much of pinna, and scrotum * Blood vessels on route to the dermi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acanthosis Nigricans
Acanthosis nigricans is a medical sign characterised by brown-to-black, poorly defined, velvety hyperpigmentation of the skin. It is usually found in body folds, such as the posterior and lateral folds of the neck, the armpits, groin, navel, forehead and other areas. It is associated with endocrine dysfunction, especially insulin resistance and hyperinsulinaemia, as seen in diabetes mellitus. This activates the insulin-like growth factor receptors, which leads to proliferation of keratinocytes, fibroblasts and other cells in the skin. Activation of other growth factor receptors such as fibroblast growth factor receptors or epidermal growth factor receptor can also be responsible. Signs and symptoms Acanthosis nigricans may present with thickened, velvety, relatively darker areas of skin on the neck, armpit and in skin folds. Causes It typically occurs in individuals younger than age 40, is associated with insulin resistance, Type 2 diabetes, obesity or endocrinopathies, s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lipodystrophy
Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, ''lipoatrophy ("lipo" is Greek for "fat", and "dystrophy" is Greek for "abnormal or degenerative condition")'', is used when describing the loss of fat from one area (usually the face). This condition is also characterized by a lack of circulating leptin which may lead to osteosclerosis. The absence of fat tissue is associated with insulin resistance, hypertriglyceridemia, non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome. Types Lipodystrophy can be divided into the following types: *Congenital lipodystrophy syndromes **Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) **Familial partial lipodystrophy **Marfanoid–progeroid–lipodystrophy syndrome ** Chronic atypical neutrophilic d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AGPAT2
1-acyl-sn-glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the ''AGPAT2'' gene. Function This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. It is a type of lipodystophy diso ..., a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. References External links * Further reading * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xanthoma
A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis) is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states. They are cutaneous manifestations of lipidosis in which lipids accumulate in large foam cells within the skin. They are associated with hyperlipidemias, both primary and secondary types. Tendon xanthomas are associated with type II hyperlipidemia, chronic biliary tract obstruction, primary biliary cirrhosis, sitosterolemia and the rare metabolic disease cerebrotendineous xanthomatosis. Palmar xanthomata and tuberoeruptive xanthomata (over knees and elbows) occur in type III hyperlipidemia. Etymology The term xanthoma stems from Greek ξανθός (xanthós) 'yellow', and -ωμα -oma, a suffix forming nouns indicating a mass or tumor. Types Xanthelasma A xanthelasma is a sharply demarcated yellowish collection of cholesterol underneath the skin, usually on or around the eyelids. Strictly, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiomyopathy
Cardiomyopathy is a group of diseases that affect the heart muscle. Early on there may be few or no symptoms. As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. An irregular heart beat and fainting may occur. Those affected are at an increased risk of sudden cardiac death. Types of cardiomyopathy include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular dysplasia, and Takotsubo cardiomyopathy (broken heart syndrome). In hypertrophic cardiomyopathy the heart muscle enlarges and thickens. In dilated cardiomyopathy the ventricles enlarge and weaken. In restrictive cardiomyopathy the ventricle stiffens. In many cases, the cause cannot be determined. Hypertrophic cardiomyopathy is usually inherited, whereas dilated cardiomyopathy is inherited in about one third of cases. Dilated cardiomyopathy may also result from alcohol, heavy m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polycystic Ovary Syndrome
Polycystic ovary syndrome, or PCOS, is the most common endocrine disorder in women of reproductive age. The syndrome is named after the characteristic cysts which may form on the ovaries, though it is important to note that this is a sign and not the underlying cause of the disorder. Women with PCOS may experience irregular menstrual periods, heavy periods, excess hair, acne, pelvic pain, difficulty getting pregnant, and patches of thick, darker, velvety skin. The primary characteristics of this syndrome include: hyperandrogenism, anovulation, insulin resistance, and neuroendocrine disruption. A review of the international evidence found that the prevalence of PCOS could be as high as 26% among some populations, though ranges between 4% and 18% are reported for general populations. Despite its high prevalence, the exact cause of PCOS remains uncertain and there is no known cure. Definition Two definitions are commonly used: * NIH : In 1990 a consensus workshop sponsore ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
OMIM
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes. Versions and history OMIM is the online continuation of Dr. Victor A. McKusick's ''Mendelian Inheritance in Man'' (MIM), which was published in 12 editions between 1966 and 1998.McKusick, V. A. ''Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes.'' Baltimore, MD: Johns Hopkins University Press, 1st ed, 1996; 2nd ed, 1969; 3rd ed, 1971; 4th ed, 1975; 5th ed, 1978; 6th ed, 1983; 7th ed, 1986; 8th ed, 1988; 9th ed, 1990; 10th ed, 1992. Nearly all of the 1,486 entries in the first edition of MIM discussed phenotypes. MIM/OMIM is produced and curated at the Johns Hopkins School of Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PLIN1
Perilipin, also known as lipid droplet-associated protein, Perilipin 1, or PLIN, is a protein that, in humans, is encoded by the ''PLIN'' gene. The perilipins are a family of proteins that associate with the surface of lipid droplets. Phosphorylation of perilipin is essential for the mobilization of fats in adipose tissue. Perilipin family of proteins Perilipin is part of a gene family with six currently-known members. In vertebrates, closely related genes include adipophilin (also known as adipose differentiation-related protein or ''Perilipin 2''), TIP47 (''Perilipin 3''), ''Perilipin 4'' and ''Perilipin 5'' (also called MLDP, LSDP5, or OXPAT). Insects express related proteins, LSD1 and LSD2, in fat bodies. The yeast ''Saccharomyces cerevisiae'' expresses PLN1 (formerly PET10), that stabilizes lipid droplets and aids in their assembly. Evolution The perilipins are considered to have their origins in a common ancestral gene which, during the first and second vertebrate gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AKT2
AKT2, also known as RAC-beta serine/threonine-protein kinase, is an enzyme that in humans is encoded by the ''AKT2'' gene. It influences metabolite storage as part of the insulin signal transduction pathway. Function This gene is a putative oncogene encoding a protein belonging to the AKT subfamily of serine/threonine kinases that contain SH2-like (Src homology 2-like) domains. The encoded protein is a general protein kinase capable of phosphorylating several known proteins. AKT2 has important roles in controlling glycogenesis, gluconeogenesis, and glucose transport as part of the insulin signal transduction pathway. Clinical significance The gene was shown to be amplified and overexpressed in 2 of 8 ovarian carcinoma cell lines and 2 of 15 primary ovarian tumors. Overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. Mice lacking Akt2 have a normal body mass, but display a profound diabetic phenotype, indicating that A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
