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Prader–Willi syndrome

Index Prader–Willi syndrome

Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. [1]

81 relations: Adrenarche, Andrea Prader, Angelman syndrome, Arcuate nucleus, Attention span, Behaviour therapy, Breech birth, Caesarean section, Can't Stop Eating (film), Channel 4, Childhood obesity, Chromosomal translocation, Chromosome 15, Cryptorchidism, CSI: Crime Scene Investigation, Deletion (genetics), Developmental disability, Diabetes mellitus, Diabetes mellitus type 2, Down syndrome, Egg, Epigenetics, Esotropia, Excoriation disorder, Extreme Makeover: Home Edition, Feeding tube, Genetic disorder, Genetic testing, Genetics of obesity, Genomic imprinting, Ghrelin, Group home, Growth hormone, Growth hormone therapy, Heredity, Hypernasal speech, Hypersomnia, Hypogonadism, Hypothalamus, Hypotonia, Infant, Infertility, Intelligence quotient, Jigsaw puzzle, John Langdon Down, Learning disability, Lethargy, Medical genetics, Mutation, Myotonic dystrophy, ..., Mystery Diagnosis, NDN (gene), Obesity, Obsessive–compulsive disorder, Oxytocin, Pediatrics, Polyhydramnios, Polyphagia, Positive airway pressure, Prenatal testing, Primitive reflexes, Psychiatry, ROHHAD, Scoliosis, Sequela, Sheryl Crow, Sleep apnea, Sleep disorder, Small nuclear ribonucleoprotein polypeptide N, Small nucleolar RNA, Small nucleolar RNA SNORD115, Small nucleolar RNA SNORD116, Small nucleolar RNA SNORD64, Speech delay, Sperm, Spinal muscular atrophy, Strabismus, Stretch marks, Ty Pennington, Uniparental disomy, Working memory. Expand index (31 more) »

Adrenarche

Adrenarche is an early sexual maturation stage in some higher primates that in humans typically occurs at around 10-12 years of age and is responsible for pubic hair, body odor, skin oiliness, and acne.

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Andrea Prader

Andrea Prader (December 23, 1919 – June 3, 2001) was a Swiss scientist, physician, and pediatric endocrinologist.

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Angelman syndrome

Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system.

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Arcuate nucleus

The arcuate nucleus of the hypothalamus (also known as ARH, ARC, or infundibular nucleus) is an aggregation of neurons in the mediobasal hypothalamus, adjacent to the third ventricle and the median eminence.

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Attention span

Attention span is the amount of concentrated time a person can spend on a task without becoming distracted.

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Behaviour therapy

Behaviour therapy is a broad term referring to clinical psychotherapy that uses techniques derived from behaviourism.

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Breech birth

A breech birth occurs when a baby is born bottom first instead of head first.

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Caesarean section

Caesarean section, also known as C-section or caesarean delivery, is the use of surgery to deliver one or more babies.

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Can't Stop Eating (film)

Can't Stop Eating is a 2006 documentary film that follows the lives of several people with Prader-Willi Syndrome (PWS).

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Channel 4

Channel 4 is a British public-service television broadcaster that began transmission on 2 November 1982.

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Childhood obesity

Childhood obesity is a condition where excess body fat negatively affects a child's health or well-being.

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Chromosomal translocation

In genetics, a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.

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Chromosome 15

Chromosome 15 is one of the 23 pairs of chromosomes in humans.

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Cryptorchidism

Cryptorchidism is the absence of one or both testes from the scrotum.

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CSI: Crime Scene Investigation

CSI: Crime Scene Investigation, also referred to as CSI and CSI: Las Vegas, is an American procedural forensics crime drama television series which ran on CBS from October 6, 2000, to September 27, 2015, spanning 15 seasons.

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Deletion (genetics)

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.

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Developmental disability

Developmental disability is a diverse group of chronic conditions that are due to mental or physical impairments that arise before adulthood.

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Diabetes mellitus

Diabetes mellitus (DM), commonly referred to as diabetes, is a group of metabolic disorders in which there are high blood sugar levels over a prolonged period.

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Diabetes mellitus type 2

Diabetes mellitus type 2 (also known as type 2 diabetes) is a long-term metabolic disorder that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.

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Down syndrome

Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21.

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Egg

An egg is the organic vessel containing the zygote in which an animal embryo develops until it can survive on its own; at which point the animal hatches.

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Epigenetics

Epigenetics is the study of heritable changes in gene function that do not involve changes in the DNA sequence.

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Esotropia

Esotropia is a form of strabismus in which one or both eyes turns inward.

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Excoriation disorder

Excoriation disorder is a mental disorder characterized by the repeated urge to pick at one's own skin, often to the extent that damage is caused.

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Extreme Makeover: Home Edition

Extreme Makeover: Home Edition (EM:HE; sometimes informally referred to as Extreme Home Makeover) is an American reality television series providing home improvements for less fortunate families and community schools.

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Feeding tube

A feeding tube is a medical device used to provide nutrition to people who cannot obtain nutrition by mouth, are unable to swallow safely, or need nutritional supplementation.

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Genetic disorder

A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.

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Genetic testing

Genetic testing, also known as DNA testing, allows the determination of bloodlines and the genetic diagnosis of vulnerabilities to inherited diseases.

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Genetics of obesity

Like many other medical conditions, obesity is the result of an interplay between environmental and genetic factors.

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Genomic imprinting

Genomic imprinting is an epigenetic phenomenon that causes genes to be expressed in a parent-of-origin-specific manner.

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Ghrelin

Ghrelin (pronounced), the "hunger hormone", also known as lenomorelin (INN), is a peptide hormone produced by ghrelinergic cells in the gastrointestinal tract which functions as a neuropeptide in the central nervous system.

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Group home

A group home is a private residence model of medical care for those with complex health needs.

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Growth hormone

Growth hormone (GH), also known as somatotropin (or as human growth hormone in its human form), is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals.

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Growth hormone therapy

Growth hormone therapy refers to the use of growth hormone (GH) as a prescription medication—it is one form of hormone therapy.

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Heredity

Heredity is the passing on of traits from parents to their offspring, either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents.

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Hypernasal speech

Hypernasal speech (also hyperrhinolalia or open nasality; medically known as Rhinolalia aperta from Latin rhinolalia: "nasal speech" and aperta: "open") is a disorder that causes abnormal resonance in a human's voice due to increased airflow through the nose during speech.

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Hypersomnia

Hypersomnia, or hypersomnolence, is a neurological disorder of excessive time spent sleeping or excessive sleepiness.

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Hypogonadism

Hypogonadism means diminished functional activity of the gonads—the testes or the ovaries —that may result in diminished sex hormone biosynthesis.

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Hypothalamus

The hypothalamus(from Greek ὑπό, "under" and θάλαμος, thalamus) is a portion of the brain that contains a number of small nuclei with a variety of functions.

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Hypotonia

Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.

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Infant

An infant (from the Latin word infans, meaning "unable to speak" or "speechless") is the more formal or specialised synonym for "baby", the very young offspring of a human.

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Infertility

Infertility is the inability of a person, animal or plant to reproduce by natural means.

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Intelligence quotient

An intelligence quotient (IQ) is a total score derived from several standardized tests designed to assess human intelligence.

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Jigsaw puzzle

A jigsaw puzzle is a tiling puzzle that requires the assembly of often oddly shaped interlocking and tessellating pieces.

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John Langdon Down

John Langdon Haydon Down (18 November 1828 – 7 October 1896) was a British physician best known for his description of the genetic disorder now known as Down syndrome, which he originally classified in 1862.

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Learning disability

Learning disability is a classification that includes several areas of functioning in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors.

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Lethargy

Lethargy is a state of tiredness, weariness, fatigue, or lack of energy.

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Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

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Mutation

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.

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Myotonic dystrophy

Myotonic dystrophy is a long term genetic disorder that affects muscle function.

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Mystery Diagnosis

Mystery Diagnosis is a television docudrama series that aired on OWN: Oprah Winfrey Network.

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NDN (gene)

Necdin is a protein that in humans is encoded by the NDN gene.

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Obesity

Obesity is a medical condition in which excess body fat has accumulated to the extent that it may have a negative effect on health.

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Obsessive–compulsive disorder

Obsessive–compulsive disorder (OCD) is a mental disorder where people feel the need to check things repeatedly, perform certain routines repeatedly (called "rituals"), or have certain thoughts repeatedly (called "obsessions").

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Oxytocin

Oxytocin (Oxt) is a peptide hormone and neuropeptide.

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Pediatrics

Pediatrics (also spelled paediatrics or pædiatrics) is the branch of medicine that involves the medical care of infants, children, and adolescents.

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Polyhydramnios

Polyhydramnios (polyhydramnion, hydramnios, polyhydramnios) is a medical condition describing an excess of amniotic fluid in the amniotic sac.

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Polyphagia

Polyphagia or hyperphagia is excessive hunger or increased appetite.

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Positive airway pressure

Positive airway pressure (PAP) is a mode of respiratory ventilation used in the treatment of sleep apnea.

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Prenatal testing

Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible.

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Primitive reflexes

Primitive reflexes are reflex actions originating in the central nervous system that are exhibited by normal infants, but not neurologically intact adults, in response to particular stimuli.

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Psychiatry

Psychiatry is the medical specialty devoted to the diagnosis, prevention and treatment of mental disorders.

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ROHHAD

Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare condition whose etiology is currently unknown.

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Scoliosis

Scoliosis is a medical condition in which a person's spine has a sideways curve.

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Sequela

A sequela (usually used in the plural, sequelae) is a pathological condition resulting from a disease, injury, therapy, or other trauma.

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Sheryl Crow

Sheryl Suzanne Crow (born February 11, 1962) is an American musician, singer, songwriter, and actress.

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Sleep apnea

Sleep apnea, also spelled sleep apnoea, is a sleep disorder characterized by pauses in breathing or periods of shallow breathing during sleep.

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Sleep disorder

A sleep disorder, or somnipathy, is a medical disorder of the sleep patterns of a person or animal.

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Small nuclear ribonucleoprotein polypeptide N

Small nuclear ribonucleoprotein-associated protein N is a protein that in humans is encoded by the SNRPN gene.

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Small nucleolar RNA

Small nucleolar RNAs (snoRNAs) are a class of small RNA molecules that primarily guide chemical modifications of other RNAs, mainly ribosomal RNAs, transfer RNAs and small nuclear RNAs.

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Small nucleolar RNA SNORD115

SNORD115 (also known as HBII-52) is a non-coding RNA (ncRNA) molecule known as a small nucleolar RNA which usually functions in guiding the modification of other non-coding RNAs.

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Small nucleolar RNA SNORD116

SNORD116 (also known as HBII-85) is a non-coding RNA (ncRNA) molecule which functions in the modification of other small nuclear RNAs (snRNAs).

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Small nucleolar RNA SNORD64

SNORD64 (also known as HBII-13) is a non-coding RNA (ncRNA) molecule which functions in the biogenesis (modification) of other small nuclear RNAs (snRNAs).

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Speech delay

Speech delay, also known as alalia, refers to a delay in the development or use of the mechanisms that produce speech.

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Sperm

Sperm is the male reproductive cell and is derived from the Greek word (σπέρμα) sperma (meaning "seed").

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Spinal muscular atrophy

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterised by loss of motor neurons and progressive muscle wasting, often leading to early death.

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Strabismus

Strabismus, also known as crossed eyes, is a condition in which the eyes do not properly align with each other when looking at an object.

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Stretch marks

Stretch marks, also known as striae, are a form of scarring on the skin with an off-color hue.

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Ty Pennington

Tygert Burton "Ty" Pennington (born Gary Tygert Burton; October 19, 1964) is an American television host, artist, carpenter, author, philanthropist and former model and actor.

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Uniparental disomy

Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent.

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Working memory

Working memory is a cognitive system with a limited capacity that is responsible for temporarily holding information available for processing.

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Redirects here:

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References

[1] https://en.wikipedia.org/wiki/Prader–Willi_syndrome

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