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Topic Review
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML).
  • 861
  • 23 Dec 2020
Topic Review
FZD6 Gene
Frizzled class receptor 6
  • 861
  • 25 Dec 2020
Topic Review
FOXL2-Related Epicanthus Inversus Syndrome
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a craniofacial disorder caused by heterozygous variants of the forkhead box L2 (FOXL2) gene. It shows autosomal dominant inheritance but can also occur sporadically. Depending on the mutation, two phenotypic subtypes have been described, both involving the same craniofacial features: type I, which is associated with premature ovarian failure (POF), and type II, which has no systemic features. 
  • 861
  • 16 Mar 2021
Topic Review
LncRNAs in Alzheimer’s Disease
One of the most compelling needs in the study of Alzheimer’s disease (AD) is the characterization of cognitive decline peripheral biomarkers. In this context, the theme of altered RNA processing has emerged as a contributing factor to AD. In particular, the significant role of long non-coding RNAs (lncRNAs) associated to AD is opening new perspectives in AD research. This class of RNAs may offer numerous starting points for new investigations about pathogenic mechanisms and, in particular, about peripheral biomarkers. Indeed, altered lncRNA signatures are emerging as potential diagnostic biomarkers
  • 861
  • 10 Aug 2021
Topic Review
Melnick-Needles Syndrome
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal development and other health problems.
  • 861
  • 23 Dec 2020
Topic Review
Dyskeratosis Congenita
Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).
  • 861
  • 24 Dec 2020
Topic Review
Lacrimo-Auriculo-Dento-Digital Syndrome
Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital).
  • 860
  • 23 Dec 2020
Topic Review
CNGA3 Gene
cyclic nucleotide gated channel alpha 3
  • 860
  • 24 Dec 2020
Topic Review
Epigenetic Biomarkers for Neurodegenerative Disorders
Epigenetics is the study of heritable changes in gene expression that occur without alterations to the DNA sequence, linking the genome to its surroundings. The accumulation of epigenetic alterations over the lifespan may contribute to neurodegeneration.
  • 860
  • 19 Jan 2022
Topic Review
MT-TL1 Gene
mitochondrially encoded tRNA leucine 1 (UUA/G)
  • 860
  • 23 Dec 2020
Topic Review
GPR101 Gene
G protein-coupled receptor 101
  • 859
  • 22 Dec 2020
Topic Review
White Sponge Nevus
White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue.
  • 859
  • 23 Dec 2020
Topic Review
CYP27B1 Gene
Cytochrome P450 Family 27 Subfamily B Member 1: The CYP27B1 gene provides instructions for making an enzyme called 1-alpha-hydroxylase (1α-hydroxylase). 
  • 859
  • 23 Dec 2020
Topic Review
PGAP2 Gene
post-GPI attachment to proteins 2
  • 859
  • 25 Dec 2020
Topic Review
Pyridoxal 5'-Phosphate-Dependent Epilepsy
Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions.
  • 858
  • 24 Dec 2020
Topic Review
FANCG Gene
FA complementation group G
  • 858
  • 25 Dec 2020
Topic Review
Dystonia 16
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.
  • 858
  • 25 Dec 2020
Topic Review
GALE Gene
UDP-galactose-4-epimerase
  • 858
  • 25 Dec 2020
Topic Review
Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly.
  • 858
  • 25 Dec 2020
Topic Review
RNAse T2-Deficient Leukoencephalopathy
RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. People with RNAse T2-deficient leukoencephalopathy have neurological problems that become apparent during infancy; the problems generally do not worsen over time (progress).
  • 858
  • 04 Apr 2021
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