pathologies genetics col 1

affected individuals show shortening of the limbs, charactersitic facies, exaggerated lumbar lordosis, limitation of elbow extension, genu varum and trident hand (pathology and gene) achondroplasia, FGFR3

caused by gain of function of FGFR3 gene achondroplasia, hypochondroplasia, SADDAN, thanatophoric dysplasia

abnormal bone growth resulting in dwarfism, the limbs are shorter in proportion to the trunk achondroplasia

less severe than achondroplasia hypochondroplasia

pathology show shortening of the limbds, particularly upper arms and thighs, scoliosis hypochondroplasia

pathologies have mutations in genes involved in regulation of cartilage and bone development achondroplasia, hypochondroplasia, SADDAN, thanatophoric dysplasia

severe achondroplasia with developmental delay and acanthosis nigricans (pathology and gene) SADDAN, FGFR3

Heterozygous K650M mutation in the FGFR3 gene resulting in a dramatic increase in constitutive receptor kinase activity --> strong activation of FGFR3 gene. SADDAN

lethal disease with acanthosis nigricans SADDAN

is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period due to respiratory insufficiency because of a narrowed chest thanatophoric dysplasia

has curved, short femurs with or without cloverleaf skull. typeI thanatophoric dysplasia

has straight, relatively long femurs with severe cloverleaf skull. typeII thanatophoric dysplasia

pathology has defect in LDL receptor familial hypercholesterolemia

Elevation of serum cholesterol bound to low density lipoproteins (LDL): promotes deposition of cholesterol in the skin (canthelasma), tendons (xanthomas) and coronary arteries (atherosclerosis) familial hypercholesterolemia

Increased risk of premature coronary heart disease, aortic root is prone to develop atherosclerotic plaque at an early age. Premature death from myocardial infarction. (pathology and gene) familial hypercholesterolemia, LDLR

mutations in genes LDLR (most common), APOB, LDLRAP1, PCSK9 familial hypercholesterolemia

pathology in which the body cannot produce heme (pathology and gene) variegate porphyria, PPOX

Mutations of PPOX gene leads to changes in single amino acid (Arg --> Try) in protoporphyrinogen oxidase which takes part in the production of heme variegate porphyria

is characterised by a deficiency of the enzyme protoporphyrinogen oxidase. variegate porphyria

Due to this changed enzyme heme cant be synthesized, but instead porphyrin precursors (PPP) build up and accumulate, body requests more heme (which is not produced) variegate porphyria

increased photosensitivity, blistering, skin fragility with chronic scarring of sun-exposed areas, post-inflammatory hyperpigmentation variegate porphyria

pathology in which the body absorbs too much iron (pathology and gene) haemochromatosis, HFE

hereditary disorder characterized by excessive abruption and accumulation of iron in the body haemochromatosis

individuals with ....... absorb too much iron from their diet, leading to builup in tissues and organs, particularly the skin, liver, heart, pancreas and joints. haemochromatosis

most common variant of haemochromatosis C282Y

less common variant of haemochromatosis H63D

autosomal recessive type of haemochromatosis type I, II, III

autosomal dominant type of heamochromatosis type IV

is a genetic disorder that primarily affects the lungs and digestive system, These mutations lead to thick, sticky mucus that can clog the airways and obstruct the pancreas, causing a range of symptoms and complications. (pathology and gene) cystic fibrosis, CFTR

• Classically described as a triad: Chronic obstructive pulmonary disease. Exocrine pancreatic insufficiency. Elevation of sodium and chloride concentrations in sweat. cystic fibrosis

Progressive damage to the respiratory system: chronic coughing, wheezing, inflammation, permanent lung damage, fibrosis (forming of scar tissue), cysts in the lungs cystic fibrosis

Disruption of: Exocrine function of the pancreas. cystic fibrosis

Abnormal chloride and sodium transport due to dysfunction of the CF transmembrane conductance regulator (CFTR) --> codes for Cl- channel cystic fibrosis

disease affects 70 000 people worldwide cystic fibrosis

People with the conditions have an average life expectancy of around 40 years. cystic fibrosis

It is an inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase, an enzyme that catalyses the hydroxylation of phenylalanine to tyrosine, the rate limiting step in phenylalanine catabolism. phenylketonuria

Results in the accumulation of phenylalanine: toxic for the human body (pathology and gene) phenylketonuria, PAH

In untreated patients: Mental retardation. A musty odour. Light pigmentation. Peculiarities of gait, stance, and sitting posture Eczema. Epilepsy. phenylketonuria

The frequency of congenital abnormalities increases with increasing maternal phenylalanine levels. phenylketonuria

accumulation of glycogen in tissues particulalry heart and muscles (disease and gene) danon disease, LAMP2

cardiomyopathy (weakening of the heart muscle), skeletal myopathy (weakening of skeletal muscles), intellectual disability. Predominantly affects cardiac muscle. Skeletal muscle involvement and mental retardation are variable features. danon disease

Allelic variants of the LAMP2 gene leads to very little or no production of LAMP2 protein --> disturbs the cellular material transport into lysosomes. danon disease

lack of sperm in ejaculate (condition and deletion of which substance) azoospermia, AZF

reduced sperm production oligozoospermia

also known as Y chromosome infertility azoospermia, oligozoospermia

DISORDER OF BONE GROWTH, SHORTENING OF LONG BONES, Short statue, Wrist and forearm bone abnormality, Muscle hypertrophy (increased muscle mass) (pathology and gene) leri weil syndrome, SHOX

colour blindness, colour vision deficiency, dyschromatopsia (red-green-blindness) (patholgy and gene) daltonism, OPN1LW or OPN1MW

Problems to distinguish between some shades of red, yellow and green daltonism

bleeding disorder, problem with blood coagulation, missing of factor VIII (pathology and gene) haemophilia A, F8

- Variable phenotype of haemorrhage into joints and muscles, easy bruising, and prolonged bleeding from wounds haemophilia A and B

Coagulation factor proteins are not produced properly or in reduced amount and cannot support blood clotting process, which leads to continuous bleeding which is hard to stop, factor IX is missing (pathology and gene) haemophilia B, F8

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