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Topic Review
SLC26A4 Gene
solute carrier family 26 member 4
  • 795
  • 05 Apr 2021
Topic Review
SPINK5 Gene
serine peptidase inhibitor, Kazal type 5
  • 795
  • 24 Dec 2020
Topic Review
Glycogen Storage Disease Type IX
Glycogen storage disease type IX (also known as GSD IX) is a condition caused by the inability to break down a complex sugar called glycogen. The different forms of the condition can affect glycogen breakdown in liver cells or muscle cells or sometimes both. A lack of glycogen breakdown interferes with the normal function of the affected tissue.
  • 794
  • 23 Dec 2020
Topic Review
Congenital Hepatic Fibrosis
Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various substances needed by the body and breaking down other substances into smaller parts to be used or eliminated.
  • 794
  • 24 Dec 2020
Topic Review
Inherited Thyroxine-Binding Globulin Deficiency
Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems. Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck.
  • 793
  • 23 Dec 2020
Topic Review
SCN8A-Related Epilepsy with Encephalopathy
SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.
  • 793
  • 24 Dec 2020
Topic Review
SHOX Gene
short stature homeobox
  • 793
  • 24 Dec 2020
Topic Review
NTRK1 Gene
neurotrophic receptor tyrosine kinase 1
  • 793
  • 24 Dec 2020
Topic Review
OPN1MW Gene
opsin 1, medium wave sensitive
  • 793
  • 24 Dec 2020
Topic Review
Sepiapterin Reductase Deficiency
Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia.
  • 793
  • 25 Dec 2020
Topic Review
Familial Hemophagocytic Lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.
  • 793
  • 25 Dec 2020
Topic Review
GJA1 Gene
Gap junction protein alpha 1
  • 793
  • 25 Dec 2020
Topic Review
Spinocerebellar Ataxia Type 36
Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by progressive problems with movement that typically begin in mid-adulthood. People with this condition initially experience problems with coordination and balance (ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) and problems with speech (dysarthria). They also usually develop muscle twitches (fasciculations) of the tongue and over time, the muscles in the tongue waste away (atrophy). These tongue problems can cause difficulties swallowing liquids. As the condition progresses, individuals with SCA36 develop muscle atrophy in the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of specialized nerve cells that control muscle movement (motor neurons), which can contribute to the tongue and limb muscle atrophy in affected individuals.  
  • 792
  • 23 Dec 2020
Topic Review
Laing Distal Myopathy
Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement.
  • 792
  • 23 Dec 2020
Topic Review
Benign Familial Neonatal Seizures
Benign familial neonatal seizures (BFNS) is a condition characterized by recurrent seizures in newborn babies. The seizures begin around day 3 of life and usually go away within 1 to 4 months. The seizures can involve only one side of the brain (focal seizures) or both sides (generalized seizures). Many infants with this condition have generalized tonic-clonic seizures (also known as grand mal seizures). This type of seizure involves both sides of the brain and affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness.
  • 792
  • 24 Dec 2020
Topic Review
ABCA3 Gene
ATP binding cassette subfamily A member 3
  • 792
  • 24 Dec 2020
Topic Review
POMT2 Gene
protein O-mannosyltransferase 2
  • 792
  • 25 Dec 2020
Topic Review
Menkes Syndrome
Menkes syndrome is a disorder that affects copper levels in the body.
  • 791
  • 23 Dec 2020
Topic Review
TYROBP Gene
TYRO protein tyrosine kinase binding protein.
  • 791
  • 23 Dec 2020
Topic Review
COL6A1 Gene
collagen type VI alpha 1 chain
  • 791
  • 24 Dec 2020
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