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Topic Review
Ocular Albinism
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
  • 905
  • 24 Dec 2020
Topic Review
AIRE Gene
autoimmune regulator
  • 905
  • 24 Dec 2020
Topic Review
GBA Gene
Glucosylceramidase beta
  • 905
  • 25 Dec 2020
Topic Review
KRT1 Gene
Keratin 1
  • 904
  • 23 Dec 2020
Topic Review
Parkes Weber Syndrome
Parkes Weber syndrome is a disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood back to the heart; and capillaries, which are tiny blood vessels that connect arteries and veins.
  • 904
  • 24 Dec 2020
Topic Review
Tetrasomy 18p
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. However, the signs and symptoms vary among affected individuals.  
  • 903
  • 23 Dec 2020
Topic Review
NBN Gene
nibrin
  • 903
  • 23 Dec 2020
Topic Review
Coats Plus Syndrome
Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.
  • 903
  • 24 Dec 2020
Topic Review
PMS2 Gene
PMS1 homolog 2, mismatch repair system component
  • 903
  • 25 Dec 2020
Topic Review
ARSACS
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known as ARSACS, is a condition affecting muscle movement. People with ARSACS typically have abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms and legs (peripheral neuropathy).
  • 903
  • 04 Jan 2021
Topic Review
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth.
  • 902
  • 23 Dec 2020
Topic Review
Peters Anomaly
Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment.
  • 902
  • 24 Dec 2020
Topic Review
Arthrogryposis
Arthrogryposis (arth = joint; grp = curved; osis = pathological state) describes a broad range of phenotypes consisting of multiple congenital joint contractures presenting at birth. About 1 in 3000 live births presents with some form of arthrogryposis, many of which are nonprogressive and improve with physiotherapy. The core root of arthrogryposis is fetal akinesia, or lack of fetal movement, that results in contractures forming in the joints. 
  • 902
  • 21 Jun 2021
Topic Review
Symptomatic Heterozygosity
As a rule of thumb, heterozygous carriers of variants associated with recessive diseases are asymptomatic. This can be confirmed by large population genetic studies and the asymptomatic status of heterozygous family members in segregation analyses. Symptomatic heterozygotes, defined as symptomatic carriers of a recessive autosomal disease, are individuals carrying only one copy of the pathogenic/likely pathogenic variant in biallelic autosomal Mendelian diseases. Considering the available literature, a symptomatic heterozygous status in autosomal diseases is extremely rare and has been based on case reports only, although some large studies have suggested an increased risk for some diseases among heterozygotes. Also, individuals who carry just one variant of the disease-causing gene and who display quite a severe phenotype are often not defined as symptomatic carriers per se; rather, they are classified as an example of a dominant inheritance with a milder disease form. Indeed, sometimes only a fine line exists between these two conditions. In addition, recent population studies investigating links between genetic variants and quantitative traits have shown a spectrum of subclinical phenotypes associated with heterozygosity in some disease variants. A broad range of intermediate subclinical phenotypes has suggested significant heterozygous phenotypic effects in some Mendelian biallelic diseases.
  • 902
  • 17 Aug 2023
Topic Review
Biotin-Thiamine-Responsive Basal Ganglia Disease
Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse. The occurrence of specific neurological problems and their severity vary even among affected individuals within the same family.
  • 901
  • 24 Dec 2020
Topic Review
CAV1 Gene
caveolin 1
  • 901
  • 24 Dec 2020
Topic Review
Frontotemporal Ddementia with Parkinsonism-17
Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a brain disorder. It is part of a group of conditions, called frontotemporal dementia or frontotemporal degeneration, that are characterized by a loss of nerve cells (neurons) in areas of the brain called the frontal and temporal lobes. Over time, a loss of these cells can affect personality, behavior, language, and movement.
  • 901
  • 25 Dec 2020
Topic Review
Expression and Regulation of INPP5D in  Alzheimer’s Disease
Alzheimer’s disease (AD) is the most common form of dementia, accounting for approximately 38.5 million cases of all-cause dementia. Microglial cells, the innate immune cells of the central nervous system (CNS), have long been established as guardians of the brain by providing neuroprotection and maintaining cellular homeostasis. A protein with a myriad of effects on various important signaling pathways that is expressed in microglia is the Src Homology 2 (SH2) domain-containing Inositol 5′ Phosphatase 1 (SHIP1) protein. Encoded by the INPP5D (Inositol Polyphosphate-5-Phosphatase D) gene, SHIP1 has diminutive effects on most microglia signaling processes. Polymorphisms of the INPP5D gene have been found to be associated with a significantly increased risk of AD.
  • 901
  • 09 Oct 2023
Topic Review
Recent Advances in Syndactyly
Syndactyly (SD) is a congenital digital malformation characterized by webbing of the fingers and toes. Syndactyly is derived from the Greek word “syn”, meaning together, and “dactylos”, meaning digits. It is one of the most common hereditary limb disorders, with a prevalence of 3–10 in every 10,000 births, although higher estimates in the range of 10–40/10,000 have been reported.
  • 901
  • 24 Jun 2022
Topic Review
ATP6V1B1 Gene
ATPase H+ transporting V1 subunit B1
  • 899
  • 24 Dec 2020
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