You're using an outdated browser. Please upgrade to a modern browser for the best experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
SBDS Gene
SBDS, ribosome maturation factor
  • 857
  • 24 Dec 2020
Topic Review
CLN1 Disease
CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.
  • 857
  • 24 Dec 2020
Topic Review
Cartilage-Hair Hypoplasia
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.
  • 857
  • 24 Dec 2020
Topic Review
Familial Paroxysmal Kinesigenic Dyskinesia
Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by episodes of abnormal movement that range from mild to severe. In the condition name, the word paroxysmal indicates that the abnormal movements come and go over time, kinesigenic means that episodes are triggered by movement, and dyskinesia refers to involuntary movement of the body.
  • 857
  • 25 Dec 2020
Topic Review
LBR Gene
Lamin B receptor
  • 856
  • 23 Dec 2020
Topic Review
NOTCH3 Gene
notch 3
  • 856
  • 24 Dec 2020
Topic Review
Early-onset Myopathy with Fatal Cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood.
  • 856
  • 25 Dec 2020
Topic Review
Leber Hereditary Optic Neuropathy
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss.
  • 855
  • 23 Dec 2020
Topic Review
ABCC8 Gene
ATP binding cassette subfamily C member 8
  • 855
  • 24 Dec 2020
Topic Review
Encephalocraniocutaneous Lipomatosis
Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily affects the brain, eyes, and skin of the head and face. Most of this condition's signs and symptoms are present from birth, and they vary widely among affected individuals.
  • 855
  • 25 Dec 2020
Topic Review
Mandibulofacial Dysostosis with Microcephaly
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder.
  • 854
  • 23 Dec 2020
Topic Review
GRN-Related Frontotemporal Lobar Degeneration
GRN-related frontotemporal lobar degeneration is a progressive brain disorder that can affect behavior, language, and movement.
  • 854
  • 23 Dec 2020
Topic Review
Hypochondrogenesis
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
  • 854
  • 23 Dec 2020
Topic Review
Léri-Weill Dyschondrosteosis
Léri-Weill dyschondrosteosis is a disorder of bone growth.
  • 854
  • 24 Dec 2020
Topic Review
PLP1 Gene
proteolipid protein 1
  • 854
  • 25 Dec 2020
Topic Review
GM2-Gangliosidosis, AB Variant
GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.
  • 853
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type III
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.
  • 853
  • 23 Dec 2020
Topic Review
SUCLA2 Gene
Succinate-CoA ligase ADP-forming beta subunit: The SUCLA2 gene provides instructions for making one part (a beta subunit) of an enzyme called succinate-CoA ligase.
  • 853
  • 24 Dec 2020
Topic Review
EXT2 Gene
exostosin glycosyltransferase 2
  • 853
  • 24 Dec 2020
Topic Review
FKTN Gene
Fukutin: The FKTN gene (formerly known as FCMD) provides instructions for making a protein called fukutin. 
  • 853
  • 25 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Books

>>
Encyclopedia of COVID-19
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Academic Video Service
Feedback