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Topic Review
Tyrosine Hydroxylase Deficiency
Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects movement, with symptoms that may range from mild to severe.  
  • 888
  • 23 Dec 2020
Topic Review
CYP2C19 Gene
Cytochrome P450 Family 2 Subfamily C Member 19
  • 888
  • 23 Dec 2020
Topic Review
Congenital Leptin Deficiency
Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life.
  • 888
  • 24 Dec 2020
Topic Review
Cantú Syndrome
Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.
  • 888
  • 24 Dec 2020
Topic Review
X-linked Infantile Spinal Muscular Atrophy
X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia).
  • 888
  • 24 Dec 2020
Topic Review
Deafness-dystonia-optic Neuronopathy Syndrome
Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.
  • 888
  • 24 Dec 2020
Topic Review
Familial Cylindromatosis
Familial cylindromatosis is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles.
  • 888
  • 25 Dec 2020
Topic Review
Mismatch Repair Genes in Lynch Syndrome
Hereditary non-polyposis colorectal cancer is also known as Lynch syndrome. Lynch syndrome is associated with pathogenetic variants in one of the mismatch repair (MMR) genes.
  • 888
  • 28 Dec 2022
Topic Review
Primary Familial Brain Calcification
Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.
  • 887
  • 24 Dec 2020
Topic Review
ClC-1 Chloride Channel Structure and Myotonia-Causing Mutations Update
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and hypertrophy. Mutations in the chloride voltage-gated channel 1 (CLCN1) gene that encodes the skeletal muscle chloride channel (ClC-1) are responsible for this disease, which is commonly known as myotonic chloride channelopathy. The structure of the channel has been updated and the biophysical properties of the mutated channel have been explored and analyzed, providing important clues to the general function/dysfunction of the wild-type and mutated channels.
  • 887
  • 02 Nov 2023
Topic Review
Maternally Inherited Diabetes and Deafness
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.
  • 885
  • 23 Dec 2020
Topic Review
Hereditary Spherocytosis
Hereditary spherocytosis is a condition that affects red blood cells.
  • 885
  • 23 Dec 2020
Topic Review
SALL1 Gene
spalt like transcription factor 1
  • 885
  • 24 Dec 2020
Topic Review
Sturge-Weber Syndrome
Sturge-Weber syndrome is a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge-Weber syndrome has three major features: a red or pink birthmark called a port-wine birthmark, a brain abnormality called a leptomeningeal angioma, and increased pressure in the eye (glaucoma). These features can vary in severity and not all individuals with Sturge-Weber syndrome have all three features.  
  • 884
  • 23 Dec 2020
Topic Review
TUBB3 Gene
Tubulin beta 3 class III.
  • 884
  • 23 Dec 2020
Topic Review
Glycogen Storage Disease Type VII
Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
  • 884
  • 23 Dec 2020
Topic Review
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.
  • 884
  • 24 Dec 2020
Topic Review
Craniofrontonasal Syndrome
Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), and nose (nasal).
  • 884
  • 24 Dec 2020
Topic Review
Cytochrome P450 Oxidoreductase Deficiency
Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood.
  • 884
  • 24 Dec 2020
Topic Review
TGIF1 Gene
TGFB induced factor homeobox 1: The TGIF1 gene provides instructions for making a protein called TG-interacting factor. This protein is important for normal development of the front part of the brain (forebrain).
  • 884
  • 25 Dec 2020
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