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Topic Review
CFH Gene
complement factor H
  • 803
  • 24 Dec 2020
Topic Review
RB1 Gene
RB transcriptional corepressor 1
  • 802
  • 23 Dec 2020
Topic Review
BLM Gene
BLM RecQ like helicase
  • 802
  • 24 Dec 2020
Topic Review
Frontometaphyseal Dysplasia
Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).  
  • 802
  • 25 Dec 2020
Topic Review
CYBA Gene
Cytochrome B-245 Alpha Chain: The CYBA gene provides instructions for making a protein called the cytochrome b-245 alpha chain (also known as p22-phox). 
  • 802
  • 23 Dec 2020
Topic Review
Mandibuloacral Dysplasia
Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution.
  • 801
  • 23 Dec 2020
Topic Review
Glutathione Synthetase Deficiency
Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.
  • 801
  • 01 Feb 2021
Topic Review
JAG1 Gene
Jagged 1
  • 801
  • 23 Dec 2020
Topic Review
Nonbullous Congenital Ichthyosiform Erythroderma
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin.
  • 801
  • 24 Dec 2020
Topic Review
ATRX Gene
ATRX, chromatin remodeler
  • 801
  • 24 Dec 2020
Topic Review
CAV3-Related Distal Myopathy
CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet.
  • 801
  • 24 Dec 2020
Topic Review
Asphyxiating Thoracic Dystrophy
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited disorder of bone growth characterized by a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long bones in the arms and legs. Many infants with this condition are born with an extremely narrow, bell-shaped chest that can restrict the growth and expansion of the lungs. Life-threatening problems with breathing result, and people with asphyxiating thoracic dystrophy may live only into infancy or early childhood. However, in people who survive beyond the first few years, the narrow chest and related breathing problems can improve with age.
  • 801
  • 24 Dec 2020
Topic Review
Thrombotic Thrombocytopenic Purpura
Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots (thrombi) to form in small blood vessels throughout the body.
  • 800
  • 23 Dec 2020
Topic Review
SURF1 Gene
SURF1, cytochrome c oxidase assembly factor: The SURF1 gene provides instructions for making a protein that is important in oxidative phosphorylation, the process by which the energy from food is converted into a form cells can use. 
  • 800
  • 24 Dec 2020
Topic Review
SLC2A9 Gene
solute carrier family 2 member 9
  • 800
  • 24 Dec 2020
Topic Review
UROD Gene
Uroporphyrinogen decarboxylase.
  • 799
  • 23 Dec 2020
Topic Review
Type A Insulin Resistance Syndrome
Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin.
  • 799
  • 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.
  • 799
  • 23 Dec 2020
Topic Review
ACAN Gene
aggrecan
  • 799
  • 24 Dec 2020
Topic Review
PHKG2 Gene
phosphorylase kinase catalytic subunit gamma 2
  • 799
  • 25 Dec 2020
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