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Topic Review
SHANK3 Gene
SH3 and multiple ankyrin repeat domains 3
  • 788
  • 24 Dec 2020
Topic Review
ACAN Gene
aggrecan
  • 788
  • 24 Dec 2020
Topic Review
PDHX Gene
pyruvate dehydrogenase complex component X
  • 788
  • 25 Dec 2020
Topic Review
Bone-Related RTT
Rett syndrome (RTT) is a monogenic neurodevelopmental disorder primarily caused by mutations in X-linked MECP2 gene, encoding for methyl-CpG binding protein 2 (MeCP2), a multifaceted modulator of gene expression and chromatin organization. 
  • 788
  • 02 Jul 2021
Topic Review
Incontinentia Pigmenti
Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.
  • 787
  • 23 Dec 2020
Topic Review
TAF1 Gene
TATA-box binding protein associated factor 1: The TAF1 gene provides instructions for making part of a protein called transcription factor IID (TFIID). 
  • 787
  • 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.
  • 787
  • 24 Dec 2020
Topic Review
Early-onset Glaucoma
Glaucoma is a group of eye disorders in which the optic nerves connecting the eyes and the brain are progressively damaged. This damage can lead to reduction in side (peripheral) vision and eventual blindness. Other signs and symptoms may include bulging eyes, excessive tearing, and abnormal sensitivity to light (photophobia). The term "early-onset glaucoma" may be used when the disorder appears before the age of 40.
  • 787
  • 25 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.
  • 786
  • 23 Dec 2020
Topic Review
Medullary Cystic Kidney Disease Type1
Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that affects the kidneys.
  • 786
  • 23 Dec 2020
Topic Review
CFH Gene
complement factor H
  • 786
  • 24 Dec 2020
Topic Review
FANCA Gene
FA complementation group A
  • 786
  • 25 Dec 2020
Topic Review
Trichothiodystrophy
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.
  • 785
  • 23 Dec 2020
Topic Review
Motion Sickness
Motion sickness is a common condition characterized by a feeling of unwellness brought on by certain kinds of movement.
  • 785
  • 23 Dec 2020
Topic Review
RB1 Gene
RB transcriptional corepressor 1
  • 785
  • 23 Dec 2020
Topic Review
RAPADILINO Syndrome
RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.
  • 785
  • 24 Dec 2020
Topic Review
FGFR4 Gene
Fibroblast growth factor receptor 4: The FGFR4 gene provides instructions for making a protein called fibroblast growth factor receptor 4. 
  • 785
  • 25 Dec 2020
Topic Review
Episodic Ataxia
Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin.
  • 785
  • 25 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. 
  • 784
  • 24 Dec 2020
Topic Review
Pyle Disease
Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. 
  • 784
  • 24 Dec 2020
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