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Topic Review
Familial Atrial Fibrillation
Familial atrial fibrillation is an inherited abnormality of the heart's normal rhythm.
  • 854
  • 25 Dec 2020
Topic Review
PEX7 Gene
peroxisomal biogenesis factor 7
  • 854
  • 25 Dec 2020
Topic Review
Hartsfield Syndrome
Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the hands and feet called ectrodactyly.
  • 853
  • 23 Dec 2020
Topic Review
Guillain-Barré Syndrome
Guillain-Barré syndrome is an autoimmune disorder that affects the nerves.
  • 853
  • 23 Dec 2020
Topic Review
HLRCC
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer.
  • 853
  • 23 Dec 2020
Topic Review
Weissenbacher-Zweymüller Syndrome
Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.
  • 853
  • 23 Dec 2020
Topic Review
Chediak-Higashi Syndrome
Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.
  • 852
  • 24 Dec 2020
Topic Review
BRCA1 Gene
BRCA1, DNA repair associated
  • 852
  • 24 Dec 2020
Topic Review
CDKL5 Deficiency Disorder
CDKL5 deficiency disorder is characterized by seizures that begin in infancy, followed by significant delays in many aspects of development.
  • 852
  • 24 Dec 2020
Topic Review
NcRNAs/Splicing Activity in TGCTs
Testicular germ cell tumors (TGCTs) are the most common tumors in adolescent and young men. Recently, genome-wide studies have made it possible to progress in understanding the molecular mechanisms underlying the development of tumors. It is becoming increasingly clear that aberrant regulation of RNA metabolism can drive tumorigenesis and influence chemotherapeutic response. Notably, the expression of non-coding RNAs as well as specific splice variants is deeply deregulated in human cancers. Since these cancer-related RNA species are considered promising diagnostic, prognostic and therapeutic targets, understanding their function in cancer development is becoming a major challenge.
  • 852
  • 05 Aug 2021
Topic Review
Narcolepsy
Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake cycle. Although this condition can appear at any age, it most often begins in adolescence.
  • 852
  • 23 Dec 2020
Topic Review
Treacher Collins Syndrome
Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face.
  • 851
  • 23 Dec 2020
Topic Review
Brain-Lung-Thyroid Syndrome
Brain-lung-thyroid syndrome is a group of conditions that affect the brain, lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). Brain-lung-thyroid syndrome historically included problems with all three organs, although the designation now encompasses a combination of brain, lung, and thyroid problems. About 50 percent of affected individuals have problems with all three organs, about 30 percent have brain and thyroid problems, and about 10 percent have brain and lung problems. The brain alone is affected in 10 to 20 percent of people with the condition. Such cases are sometimes called isolated benign hereditary chorea.
  • 851
  • 24 Dec 2020
Topic Review
SDHC Gene
succinate dehydrogenase complex subunit C
  • 851
  • 24 Dec 2020
Topic Review
PHKB Gene
phosphorylase kinase regulatory subunit beta
  • 851
  • 25 Dec 2020
Topic Review
Genes Involved in the Pathogenic Potential of Mucorales
The classification of Mucorales encompasses a collection of basal fungi that have traditionally demonstrated an aversion to modern genetic manipulation techniques. This aversion led to a scarcity of knowledge regarding their biology compared to other fungal groups. However, the emergence of mucormycosis, a fungal disease caused by Mucorales, has attracted the attention of the clinical field, mainly because available therapies are ineffective for decreasing the fatal outcome associated with the disease. 
  • 851
  • 22 Mar 2023
Topic Review
Granulomatosis with Polyangiitis
Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation that primarily affects the respiratory tract (including the lungs and airways) and the kidneys. This disorder is formerly known as Wegener granulomatosis.
  • 850
  • 23 Dec 2020
Topic Review
Isolated Pierre Robin Sequence
Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways.
  • 849
  • 23 Dec 2020
Topic Review
Multiple Endocrine Neoplasia
Multiple endocrine neoplasia is a group of disorders that affect the body's network of hormone-producing glands called the endocrine system. Hormones are chemical messengers that travel through the bloodstream and regulate the function of cells and tissues throughout the body. Multiple endocrine neoplasia typically involves tumors (neoplasia) in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). If the tumors become cancerous, the condition can be life-threatening.
  • 849
  • 23 Dec 2020
Topic Review
Myoclonus-Dystonia
Myoclonus-dystonia is a movement disorder that typically affects the neck, torso, and arms. Individuals with this condition experience quick, involuntary muscle jerks or twitches (myoclonus). About half of individuals with myoclonus-dystonia develop dystonia, which is involuntary tensing of various muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often affects one or both hands, causing writer's cramp, or the neck, causing the head to turn (torticollis).
  • 849
  • 23 Dec 2020
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