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Topic Review
Sialic Acid Storage Disease
Sialic acid storage disease is an inherited disorder that primarily affects the nervous system.
  • 957
  • 25 Dec 2020
Topic Review
Weill-Marchesani Syndrome
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.
  • 956
  • 23 Dec 2020
Topic Review
Auriculo-condylar Syndrome
Auriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).
  • 956
  • 24 Dec 2020
Topic Review
Crohn Disease
Crohn disease is a complex, long-lasting (chronic) disorder that primarily affects the digestive system. This condition involves an abnormal immune response that causes excess inflammation. It most often affects the intestinal walls, particularly in the lower part of the small intestine (the ileum) and portions of the large intestine (the colon). However, inflammation can occur in any part of the digestive system, from the mouth to the anus. The inflamed tissues become thick and swollen, and the inner surfaces of the digestive system may develop open sores (ulcers).
  • 956
  • 24 Dec 2020
Topic Review
TERC Gene
Telomerase RNA component: The TERC gene provides instructions for making one component of an enzyme called telomerase. 
  • 956
  • 24 Dec 2020
Topic Review
OPN1SW Gene
opsin 1, short wave sensitive
  • 956
  • 24 Dec 2020
Topic Review
UNC80 Deficiency
UNC80 deficiency is a severe disorder characterized by nervous system and developmental problems that are apparent from birth or early infancy. The disorder does not typically get worse over time; development of intellectual function and motor skills, such as rolling over and sitting, is slow and limited, but once skills are learned, they are usually retained.  
  • 955
  • 23 Dec 2020
Topic Review
Peters Plus Syndrome
Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), distinctive facial features, and intellectual disability.
  • 955
  • 24 Dec 2020
Topic Review
Dopamine Transporter Deficiency Syndrome
Dopamine transporter deficiency syndrome is a rare movement disorder. The condition is also known as infantile parkinsonism-dystonia because the problems with movement (dystonia and parkinsonism, described below) usually start in infancy and worsen over time. However, the features of the condition sometimes do not appear until childhood or later.
  • 955
  • 24 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.
  • 955
  • 09 Oct 2023
Topic Review
SERPINA1 Gene
serpin family A member 1
  • 954
  • 24 Dec 2020
Topic Review
CYP17A1 Gene
Cytochrome P450 Family 17 Subfamily A Member 1
  • 953
  • 23 Dec 2020
Topic Review
Cyclic Neutropenia
Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals.
  • 953
  • 24 Dec 2020
Topic Review
LEMD3 Gene
LEM domain containing 3
  • 951
  • 23 Dec 2020
Topic Review
Amelogenesis Imperfecta
Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.
  • 951
  • 24 Dec 2020
Topic Review
FLNB Gene
Filamin B
  • 951
  • 28 Jun 2021
Topic Review
Familial Hypercholesterolemia
Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. In people with familial hypercholesterolemia, the body is unable to get rid of extra cholesterol, and it builds up in the blood. Too much cholesterol increases a person's risk of developing heart disease.
  • 951
  • 25 Dec 2020
Topic Review
GLB1 Gene
Galactosidase beta 1
  • 951
  • 25 Dec 2020
Topic Review
PMP22 Gene
peripheral myelin protein 22
  • 951
  • 25 Dec 2020
Topic Review
Giant Congenital Melanocytic Nevus
Giant congenital melanocytic nevus is a skin condition characterized by an abnormally dark, noncancerous skin patch (nevus) that is composed of pigment-producing cells called melanocytes. It is present from birth (congenital) or is noticeable soon after birth.
  • 950
  • 23 Dec 2020
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