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Topic Review
Multiple Pterygium Syndrome
Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
  • 751
  • 23 Dec 2020
Topic Review
CYP11B2 Gene
Cytochrome P450 Family 11 Subfamily B Member 2: The CYP11B2 gene provides instructions for making an enzyme called aldosterone synthase (previously known as corticosterone methyloxidase). 
  • 751
  • 23 Dec 2020
Topic Review
ALS2 Gene
ALS2, alsin Rho guanine nucleotide exchange factor. The ALS2 gene provides instructions for making a protein called alsin.
  • 751
  • 24 Dec 2020
Topic Review
CLN5 Disease
CLN5 disease is an inherited disorder that primarily affects the nervous system. The signs and symptoms of this condition can begin anytime between childhood and early adulthood, but they typically appear around age 5. Children with CLN5 disease often have normal development until they experience the first signs of the condition, which are usually problems with movement and a loss of previously acquired motor skills (developmental regression). Other features of the condition include recurrent seizures that involve uncontrollable muscle jerks (myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, and a decline in intellectual function. The life expectancy of people with CLN5 disease varies; affected individuals usually survive into adolescence or mid-adulthood.
  • 751
  • 07 Mar 2021
Topic Review
GTF2I Gene
General transcription factor IIi
  • 750
  • 22 Dec 2020
Topic Review
Langer Mesomelic Dysplasia
Langer mesomelic dysplasia is a disorder of bone growth.
  • 750
  • 23 Dec 2020
Topic Review
Amish Lethal Microcephaly
Amish lethal microcephaly is a disorder in which infants are born with a very small head and underdeveloped brain.  
  • 750
  • 24 Dec 2020
Topic Review
Chorea-Acanthocytosis
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder.
  • 750
  • 24 Dec 2020
Topic Review
BAP1 Tumor Predisposition Syndrome
BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.
  • 750
  • 24 Dec 2020
Topic Review
PEPD Gene
peptidase D
  • 750
  • 25 Dec 2020
Topic Review
6q24-related Transient Neonatal Diabetes Mellitus
6q24-related transient neonatal diabetes mellitus is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.
  • 749
  • 23 Dec 2020
Topic Review
PTPN11 Gene
protein tyrosine phosphatase, non-receptor type 11
  • 749
  • 23 Dec 2020
Topic Review
CHD2 Myoclonic Encephalopathy
CHD2 myoclonic encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. Epilepsy begins in childhood, typically between ages 6 months and 4 years. Each individual may experience a variety of seizure types. The most common are myoclonic seizures, which involve involuntary muscle twitches. Other seizure types include sudden episodes of weak muscle tone (atonic seizures); partial or complete loss of consciousness (absence seizures); seizures brought on by high body temperature (febrile seizure); or tonic-clonic seizures, which involve loss of consciousness, muscle rigidity, and convulsions. Some people with CHD2 myoclonic encephalopathy have photosensitive epilepsy, in which seizures are triggered by flashing lights. Some people with CHD2 myoclonic encephalopathy experience a type of seizure called atonic-myoclonic-absence seizure, which begins with a drop of the head, followed by loss of consciousness, then rigid movements of the arms. Epilepsy can worsen, causing prolonged episodes of seizure activity that last several minutes, known as status epilepticus. The seizures associated with CHD2 myoclonic encephalopathy are called refractory because they usually do not respond to therapy with anti-epileptic medications.
  • 749
  • 24 Dec 2020
Topic Review
SLC11A2 Gene
solute carrier family 11 member 2
  • 749
  • 24 Dec 2020
Topic Review
Familial Exudative Vitreoretinopathy
Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.
  • 749
  • 25 Dec 2020
Topic Review
Nucleophosmin Isoform 1
NPM1 (nucleophosmin isoform 1) is a nucleolar and multifunctional protein. NPM1 is involved in ribosome assembly as ribonuclease, associated with centrosome duplication, and controls cellular apoptotic response by inhibiting ARF (alternative reading frame). In some cancers, mutant forms of NPM1 including the one fused to ALK, anaplastic lymphoma receptor tyrosine kinase, and NPM1c+ (NPM1 cytoplasmic positive) are known.  Moreover, in this study, NPM1 has been identified as a novel factor interacting with a CDK inhibitor p27Kip1. Increased NPM1 expression in cancer cells suppresses p27 function and promotes cell proliferation of cancer cells in vitro and in vivo. 
  • 748
  • 05 Nov 2020
Topic Review
MAP2K1 Gene
Mitogen-activated protein kinase kinase 1
  • 748
  • 23 Dec 2020
Topic Review
Chylomicron retention disease
Chylomicron retention disease is an inherited disorder that impairs the normal absorption of fats, cholesterol, and certain vitamins from food.
  • 748
  • 24 Dec 2020
Topic Review
Craniometaphyseal Dysplasia
Craniometaphyseal dysplasia is a rare condition characterized by thickening (overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long bones known as the metaphysis. The abnormal bone growth continues throughout life. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.
  • 748
  • 24 Dec 2020
Topic Review
TMEM70 Gene
Transmembrane protein 70: The TMEM70 gene provides instructions for making a protein called transmembrane protein 70.
  • 748
  • 25 Dec 2020
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