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Topic Review
Neonatal Onset Multisystem Inflammatory Disease
Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. Recurrent episodes of mild fever may also occur in this disorder.
  • 887
  • 23 Dec 2020
Topic Review
STXBP1 Encephalopathy
STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy).
  • 887
  • 24 Dec 2020
Topic Review
FOLR1 Gene
Folate receptor 1
  • 887
  • 25 Dec 2020
Topic Review
GABRA1 Gene
Gamma-aminobutyric acid type A receptor alpha1 subunit
  • 887
  • 25 Dec 2020
Topic Review
LTBP4 in Health and Disease
Latent transforming growth factor β (TGFβ)-binding protein (LTBP) 4, a member of the LTBP family, shows structural homology with fibrillins. Both these protein types are characterized by calcium-binding epidermal growth factor-like repeats interspersed with 8-cysteine domains. Based on its domain composition and distribution, LTBP4 is thought to adopt an extended structure, facilitating the linear deposition of tropoelastin onto microfibrils. In humans, mutations in LTBP4 result in autosomal recessive cutis laxa type 1C, characterized by redundant skin, pulmonary emphysema, and valvular heart disease. LTBP4 is an essential regulator of TGFβ signaling and is related to development, immunity, injury repair, and diseases, playing a central role in regulating inflammation, fibrosis, and cancer progression.
  • 887
  • 07 Jun 2021
Topic Review
Vascular Anomalies
Vascular anomalies include various diseases, which are classified into two types according to the International Society for the Study of Vascular Anomalies (ISSVA) classification: vascular tumors with proliferative changes of endothelial cells, and vascular malformations primarily consisting of structural vascular abnormalities. Vascular lesions had been habitually termed ‘hemangioma’ or ‘angioma’ in both Japan and Europe/the United States based on the impression that most anomalies are ‘tumors’. On the contrary, hemangioma simplex and cavernous hemangioma, for example, are actually morphological abnormalities of capillary blood vessels or veins, respectively, despite the disease name “hemangioma”. These diseases differ from tumors in a narrow sense, which refers to autonomous cell proliferation. In addition to such problems with disease naming and nomenclature, vascular lesions can occur at various ages and in various organs, meaning they may require treatment in various hospital departments, so improved common terms/language are essential for mutual understanding.
  • 887
  • 11 Mar 2022
Topic Review
Char Syndrome
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.
  • 887
  • 24 Dec 2020
Topic Review
Spina Bifida
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development.
  • 886
  • 23 Dec 2020
Topic Review
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 886
  • 23 Dec 2020
Topic Review
Hypochondrogenesis
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is characterized by a small body, short limbs, and abnormal bone formation (ossification) in the spine and pelvis.
  • 886
  • 23 Dec 2020
Topic Review
Larsen Syndrome
Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family.
  • 886
  • 23 Dec 2020
Topic Review
CLN1 Disease
CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.
  • 886
  • 24 Dec 2020
Topic Review
COG4 Gene
component of oligomeric golgi complex 4
  • 886
  • 19 Apr 2021
Topic Review
PLP1 Gene
proteolipid protein 1
  • 886
  • 25 Dec 2020
Topic Review
POLH Gene
DNA polymerase eta
  • 886
  • 25 Dec 2020
Topic Review
FGF23 Gene
Fibroblast growth factor 23
  • 886
  • 04 Jan 2021
Topic Review
Pathogenesis and Therapeutics for Huntington’s Disease
Huntington’s disease (HD) is a debilitating neurodegenerative genetic disorder caused by an expanded polyglutamine-coding (CAG) trinucleotide repeat in the huntingtin (HTT) gene. HD behaves as a highly penetrant dominant disorder likely acting through a toxic gain of function by the mutant huntingtin protein. Widespread cellular degeneration of the medium spiny neurons of the caudate nucleus and putamen are responsible for the onset of symptomology that encompasses motor, cognitive, and behavioural abnormalities. 
  • 886
  • 06 Sep 2023
Topic Review
DES Gene
Desmin
  • 885
  • 24 Dec 2020
Topic Review
RYR2 Gene
ryanodine receptor 2
  • 885
  • 24 Dec 2020
Topic Review
CPT1A Gene
carnitine palmitoyltransferase 1A
  • 885
  • 24 Dec 2020
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