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Transient Neonatal Diabetes Mellitus
Transient neonatal diabetes mellitus (TNDM) is a form of neonatal diabetes Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce or use insulin. NDM is a kind of diabetes that is monogenic (regulated by a single gene) and arises in the first 6 months of life. Infants do ... presenting at birth that is not permanent. This disease is considered to be a type of maturity onset diabetes of the young (MODY). Types Cause This condition has to do with genetics and is often associated with having an added Chromosome 7 gene (mostly from the paternal side). The form on chromosome 6 can involve imprinting. Diagnosis Management See also * Permanent neonatal diabetes mellitus References Further reading GeneReview/NIH/UW entry on 6q24-Related Transient Neonatal Diabetes Mellitush1> External links {{DEFAULTSORT:Transient Neonatal Diabetes Mellitus Types of diabetes Neonatology ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neonatal Diabetes
Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce or use insulin. NDM is a kind of diabetes that is monogenic (regulated by a single gene) and arises in the first 6 months of life. Infants do not produce enough insulin, leading to an increase in glucose accumulation. It is a rare disease, occurring in only one in 100,000 to 500,000 live births. NDM can be mistaken for the much more common type 1 diabetes, but type 1 diabetes usually occurs later than the first 6 months of life. There are two types of NDM: permanent neonatal diabetes mellitus (PNDM), a lifelong condition, and transient neonatal diabetes mellitus (TNDM), a form of diabetes that disappears during the infant stage but may reappear later in life. Specific genes that can cause NDM have been identified. [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maturity Onset Diabetes Of The Young
Maturity or immaturity may refer to: * Adulthood or age of majority * Maturity model ** Capability Maturity Model, in software engineering, a model representing the degree of formality and optimization of processes in an organization * Developmental age, the age of an embryo as measured from the point of fertilization * Mature technology, a technology has been in use and development for long enough that most of its initial problems have been overcome * Maturity (finance), indicating the final date for payment of principal and interest * Maturity (geology), rock, source rock, and hydrocarbon generation * Maturity (psychological), the attainment of one's final level of psychological functioning and the integration of their personality into an organized whole * Maturity (sedimentology), the proximity of a sedimentary deposit from its source * Sexual maturity, the stage when an organism can reproduce, though this is distinct from adulthood See also * Evolution Evolution is t ... [...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 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] |
ZFP57
Zinc finger protein 57 homolog (ZFP57), also known as zinc finger protein 698 (ZNF698), is a protein that in humans is encoded by the ''ZFP57'' gene. Function The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Clinical significance Mutations in the ZFP57 gene may be associated with transient neonatal diabetes mellitus Transient neonatal diabetes mellitus (TNDM) is a form of neonatal diabetes Neonatal diabetes mellitus (NDM) is a disease that affects an infant and their body's ability to produce or use insulin. NDM is a kind of diabetes that is monogenic (regula .... References Further reading * * * * * * * {{gene-6-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PLAGL1
Zinc finger protein PLAGL1 is a protein that in humans is encoded by the ''PLAGL1'' gene. Function This gene encodes a C2H2 zinc finger protein with transactivation and DNA-binding activity. This gene has been shown to exhibit antiproliferative activities and is a tumor suppressor gene candidate. Many transcript variants encoding two different isoforms have been found for this gene. Interactions PLAGL1 has been shown to interact with P53 p53, also known as tumor protein p53, cellular tumor antigen p53 (UniProt name), or transformation-related protein 53 (TRP53) is a regulatory transcription factor protein that is often mutated in human cancers. The p53 proteins (originally thou .... References Further reading * * * * * * * * * * * * * * * {{gene-6-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ABCC8
ATP-binding cassette transporter sub-family C member 8 is a protein that in humans is encoded by the ''ABCC8'' gene. ''ABCC8'' orthologs have been identified in all mammals for which complete genome data are available. The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II (neonatal d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KCNJ11
Kir6.2 is a major subunit of the ATP-sensitive K+ channel, a lipid-gated inward-rectifier potassium ion channel. The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism. Structure It is an integral membrane protein. The protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor (SUR) to constitute the ATP-sensitive K+ channel. Pathology Mutations in this gene are a cause of congenital hyperinsulinism (CHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM). See also * Inward-rectifier potassium ion channel * Potassium channel Potassium channels are the most widely distributed type of ion channel found in virtually all organisms. The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genomic Imprinting
Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed or not, depending on whether they are inherited from the female or male parent. Genes can also be partially imprinted. Partial imprinting occurs when alleles from both parents are differently expressed rather than complete expression and complete suppression of one parent's allele. Forms of genomic imprinting have been demonstrated in fungi, plants and animals. In 2014, there were about 150 imprinted genes known in mice and about half that in humans. As of 2019, 260 imprinted genes have been reported in mice and 228 in humans. Genomic imprinting is an inheritance process independent of the classical Mendelian inheritance. It is an epigenetic process that involves DNA methylation and histone methylation without altering the genetic sequence. These epigenetic marks are established ("imprinted") in the germline (sperm or egg cells) of the parents and are maintained through mitotic cell divisions in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Permanent Neonatal Diabetes Mellitus
Permanent neonatal diabetes mellitus (PNDM) is a newly identified and potentially treatable form of monogenic diabetes. This type of neonatal diabetes is caused by activating mutations of the '' KCNJ11'' gene, which codes for the Kir6.2 subunit of the beta cell KATP channel. This disease is considered to be a type of maturity onset diabetes of the young (MODY). Signs and symptoms Cause It can be associated with '' GCK'', '' KCNJ11'', '' INS'', and ''ABCC8''. Diagnosis This results in congenital impairment of insulin release, although in the past, this was always being thought to be unusually early type 1 diabetes mellitus. The insulin deficiency results in intrauterine growth retardation with birth weight small for gestational age. The diabetes is usually diagnosed in the first 3 months of life due to continuing poor weight gain, polyuria, or diabetic ketoacidosis. Rare cases have been recognized as late as 6 months of age. Treatment Remarkably, this type of diabetes often respo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Types Of Diabetes
Type may refer to: Science and technology Computing * Typing, producing text via a keyboard, typewriter, etc. * Data type, collection of values used for computations. * File type * TYPE (DOS command), a command to display contents of a file. * Type (Unix), a command in POSIX shells that gives information about commands. * Type safety, the extent to which a programming language discourages or prevents type errors. * Type system, defines a programming language's response to data types. Mathematics * Type (model theory) * Type theory, basis for the study of type systems * Arity or type, the number of operands a function takes * Type, any proposition or set in the intuitionistic type theory * Type, of an entire function ** Exponential type Biology * Type (biology), which fixes a scientific name to a taxon * Dog type, categorization by use or function of domestic dogs Lettering * Type is a design concept for lettering used in typography which helped bring about modern textual printi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
