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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.
  • 767
  • 24 Dec 2020
Topic Review
ENPP1 Gene
Ectonucleotide pyrophosphatase/phosphodiesterase 1: The ENPP1 gene provides instructions for making a protein called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). 
  • 767
  • 24 Dec 2020
Topic Review
F9 Gene
Coagulation Factor IX: The F9 gene provides instructions for making a protein called coagulation factor IX. 
  • 767
  • 25 Dec 2020
Topic Review
MLH1 Gene
mutL homolog 1
  • 766
  • 22 Dec 2020
Topic Review
MKKS Gene
McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly), heart defects, and genital abnormalities.
  • 765
  • 22 Dec 2020
Topic Review
Hystrix-Like Ichthyosis with Deafness
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like means resembling a porcupine; in this type of ichthyosis, the scales may be thick and spiky, giving the appearance of porcupine quills.
  • 765
  • 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). 
  • 765
  • 23 Dec 2020
Topic Review
MAP2K1 Gene
Mitogen-activated protein kinase kinase 1
  • 765
  • 23 Dec 2020
Topic Review
Arterial Tortuosity Syndrome
Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract.
  • 765
  • 24 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.
  • 765
  • 24 Dec 2020
Topic Review
OCRL Gene
OCRL, inositol polyphosphate-5-phosphatase
  • 765
  • 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.
  • 765
  • 25 Dec 2020
Topic Review
PCBD1 Gene
pterin-4 alpha-carbinolamine dehydratase 1
  • 765
  • 25 Dec 2020
Topic Review
CtDNA in Colorectal Cancer
Circulating tumor DNA (ctDNA) is tumor-derived fragmented DNA in the bloodstream that was shed from primary and/or metastatic tumors.
  • 765
  • 29 Jun 2021
Topic Review
Centronuclear Myopathy
Centronuclear myopathy is a condition characterized by muscle weakness (myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles used for movement. The severity of centronuclear myopathy varies among affected individuals, even among members of the same family.
  • 765
  • 24 Dec 2020
Topic Review
Trichohepatoenteric Syndrome
Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), liver (hepato-), and intestines (enteric), as well as other tissues and organs in the body.
  • 764
  • 23 Dec 2020
Topic Review
Wiedemann-Rautenstrauch Syndrome
Wiedemann-Rautenstrauch syndrome is a type of progeria, which is a group of genetic conditions characterized by the dramatic, rapid appearance of aging earlier in life than expected.
  • 764
  • 23 Dec 2020
Topic Review
PTPN11 Gene
protein tyrosine phosphatase, non-receptor type 11
  • 764
  • 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.
  • 764
  • 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.
  • 764
  • 24 Dec 2020
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