Genetic diseases and disorders

long term autoimmune disorder caused by a reaction to gluten

rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia

health problem caused by one or more abnormalities in the genome

human disease, a condition characterized by large amounts of dilute urine and increased thirst

human disease

genetic brain disorder

genetic condition in humans

rare genetic disorder

human disease

thumb|Illustration of the degree of penetrance Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation. For example: If a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will go on to develop the disease, show

skin condition characterized by small bumps

neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13

metal metabolism disorder characterized by the accumulation of iron in various organs of the body

rare chromosomal disorder with 4 X chromosomes

thumb|420x420px|Eukaryotic cilium Ciliopathies are a group of genetically diverse disorders caused by defects in the structure or function of the primary cilium, a highly specialized and evolutionarily conserved organelle found in nearly all eukaryotic cells. The primary cilium plays a central role in regulating signal transduction and making it essential for numerous developmental and physiological processes.

American activist and author (1997-2018)

a rare genetic neurodevelopmental disorder

Choroideremia (; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.

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immune disorder

chromosome whose arms fused into a ring

Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.

no proof

impaired renal function disease characterized by a complete or partial resistance of the kidneys to arginine vasopressin (AVP)

bone inflammation disease in infants

hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body

form of dwarfism that results in a smaller body size in all stages of life

urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase

a hereditary disease characterized by involuntary painful muscle contractions resulting in uncontrollable distortions

deviation from normal walking (gait)

disease with impaired function of the posterior lobe of the pituitary gland, characterized by a complete or partial deficiency in the production of the hormone arginine-vasopressin (AVP) in the brain

genetic disorder that primarily affects the eye and almost always leads to blindness

Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped. This condition may be associated with a number of disorders including Peter's anomaly, Marfan syndrome, and Weill–Marchesani syndrome. The spherical shape is caused by an underdeveloped zonule of Zinn, which doesn't exert enough force on the lens to make it form the usual oval shape. It is a result of a homozygous mutation to the LTBP2 gene.

group of diseases

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism

Laminopathies (lamino- + -pathy) are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals. Laminopathies are a group of degenerative diseases, other disorders associated with inner nuclear membrane proteins are known as nuclear envelopathies.

osteochondrodysplasia that has material basis in mesomelia and acromelia, which results in short limb Dwarfism

Human disease

osteosclerosis that has material basis in mutations in the ANKH gene which results in progressive thickening located in skull and abnormally shaped ends of long bones in the limbs

The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.

autosomal recessive disease characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has material basis in homozygous mutation in the BCKDK gene on chromosome 16p11

medical condition

muscle tissue disease characterized by increased muscle bulk and strength that has material basis in homozygous mutation in the MSTN gene on chromosome 2q32.2

glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity

genetic disorder

autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has material basis in heterozygous mutation in the FGFR3 gene on chromosome 4p16

human disease