Term
| An inherited blistering skin disease where epithelium detaches below basal membrane (defective anchor fibrils) |
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Definition
| Dystrophic epidermolysis bullosa |
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Term
| A progressive muscular weakness that's found only in males resulting in the absence of the protein dystrophin that binds laminin to external laminin and actin filaments inside the cell |
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Definition
| Duchenne's Muscular Dystrophy |
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Term
| Cause of food poisoning. It attracts zonula occludens in intestines & causes massive movement of fluid into lumen |
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Definition
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Term
| Causes gastric ulcers that target ZO-1 & ZO-2 & JAM of zonula occludens in the stomach |
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Definition
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Term
| Causes diarrhea in intestines by attracting ZO-1 & ZO-2 of zonula occludens |
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Definition
Cholera Toxin
(can overcome with opium) |
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Term
| Common dust mites that causes asthma attachs and breaks down the zonula occludens junction in respiratory tract |
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Definition
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Term
| Skin disease caused by autoantibodies produced against desmosomal proteins and causes blistering of skin |
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Definition
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Term
| This particular toxin binds to serine residue and prevents access of acetylcholinesterase to bind |
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Definition
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Term
| Whooping cough by virus bordetella Pertussis and modifies the Giαsubunit, inactivating it |
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Definition
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Term
| This deformity results when an insulin mediated receptor IRS-1 & IRS-2 is missing |
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Definition
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Term
| A genetic defect caused by hyperelasticity of the skin and hypermobility of joints and deficiency in collagen type III |
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Definition
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Term
| Caused by a mutation of fibrillin gene |
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Definition
Marfan Syndrome
(result in aortic or arterial rupture) |
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Term
| Effect when microfibrillar network is affected by solar radiation resulting in decreased skin elasticity and appearance of deep wrinkles of photoaged skin |
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Definition
| Fibrillin microfilaments and chronic sun exposure |
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Term
| This particular pathogen secretes hyaluronidase, an enzyme that chops hyaluronic acid into smaller pieces thus converting the ground substance from a gel state to a liquid state |
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Definition
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Term
| Effect caused by a mutation on the parathyroid hormone receptor causing abnormal Gsαprotein and makes insufficient coupling to adenylate cyclase |
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Definition
Pseudohypoparathyroidism
(can be reversed by giving the patient more PTH) |
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Term
| Effect that causes a mutation on the thyroid stimulating hormone and causes a Gsα mutation. This causes an accumulation of cAMP because GTP cant be hydrolysed |
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Definition
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Term
| Disease that is caused by not enough cells migrating into the caudal region (lateral mesoderm) of the primitive streak causing vertebrae malformation |
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Definition
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Term
| A tumor that arises from remnants of the primitive streak effecting the bone hair and nerve |
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Definition
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Term
| Disease in newborn infants with an anterior abdominal wall defect caused by insufficient fusing of lateral folding |
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Definition
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Term
| Problems during grasturalation caused by alcohol intake from the mother. A cycloptic child due to lack of formation of midline |
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Definition
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Term
| Primitive streak cells failing to disappear at the end of the 3rd or 4th week |
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Definition
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Term
| neural tube defects that fail to close in cranial region |
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Definition
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Term
| transition of organs from one side of the body to the next |
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Definition
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Term
| reduce function of the THYMUS, thyroid, parathyroids and persistent truncus arteriosus & aortic abnormalities |
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Definition
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Term
| Due to multiple tumor and pigment disturbances |
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Definition
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Term
| neural crest cells fail to migrate to the circumpharyngeal region resulting in an absent enteric system and no peristalsis |
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Definition
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Term
| splitting of the vertebral arches that may or may not involve the underlying neural tissue |
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Definition
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Term
| Lack of fusion of the vertebral arches in the lumbosacral region marked by a patch of hair over affected region NOT involving neural tissue |
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Definition
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Term
| Characterized by water on the brain due to excess quantity of CSF |
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Definition
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Term
| Cause of neural tissue or meninges protruding through the opening of the vertebral arches and skin |
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Definition
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Term
| most severe form where neural tube fails to close resulting in a spina bifida exposing neural tissue that become necrotic |
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Definition
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Term
| Disease similar to spina bifida cystica except the spinal cord protrudes more dorsally resulting in a double brain |
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Definition
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Term
| Spina Bifida with meningocele |
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Definition
| -where only fluid-filled meninges protrude through the defect |
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Term
| A small portion of Rathke's pouch persists in the roof of the pharynx |
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Definition
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Term
| A type of hypophyseal defect that may cause hydrocephalus and pituitary dysfunctions |
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Definition
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Term
| Caused by unsuccessful nerve regeneration when the axon cannot find schwann cell |
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Definition
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Term
| failure of cephalic part of neural tube to close |
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Definition
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Term
| hereditary defects of absence of dynein causing cilia to be immotile |
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Definition
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Term
| Act on tight junctions and cause it to become permeable |
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Definition
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Term
| Neural tube closure defect extends caudally into spinal cord, causing a large defect in spine |
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Definition
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Term
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Definition
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Term
| partial paralysis of one side of the body |
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Definition
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Term
| half of vision loss in both eyes |
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Definition
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Term
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Definition
| sensorineural hearing loss |
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Term
| cleaves the 5' cap at ribosome and elF4G so that it can no longer function as a bridge between the methyl cap and 40 s subunit |
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Definition
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Term
Causes sunburn and skin cancer due to the absence of pyrimidine dimer
(caused by a defect in genome-wide excision repair) |
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Definition
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Term
| Causes early aging, poor growth due to a defect in transcription-coupled excision repair |
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Definition
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Term
hereditary nonpolyposis Colon cancer which is caused by a defect of post-replication mismatch repair
(autosomal dominant) |
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Definition
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Term
A mutation on the ATM protein kinase a signal protein required for the repair of DNA double-strand breakage
-immunodeficiency/ionizing radiation/disrupts both strands |
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Definition
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Term
Causes a deficiency in Vitamine C thats needed for hydroxyproline in collagen
(causes degeneration of teeth and C.T) |
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Definition
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Term
| Caused by prion particules resulting in loss of motor control and paralysis |
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Definition
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Term
| Caused by amyloid plaque aggregating |
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Definition
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Term
| A sex-linded disease resulting in increased height giving a XXO |
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Definition
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Term
| Caused by cervical sympathetic chain caused by whiplash, drooping of eyelids, flushed face and lack of sweat |
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Definition
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Term
| A drug that inhibit peptide bonds in humans |
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Definition
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Term
| dense, heavy marble bones occur when osteoclast lack ruffled borders & bone reabsorption is defective or overgrowth, thickening and hardening of bones |
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Definition
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Term
| increased activity of osteoclast, intense reabsorption of bone, elevation of blood Ca, phosphate and abnormal deposits of Ca in kidney and arterial wall |
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Definition
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Term
| Calcium deficiencies in children. Bone matrix doesn't calcify normally and epiphyseal plate becomes distorted |
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Definition
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Term
| Calcium deficiencies in adults. A decrease in the amount of Ca unit of bone matrix |
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Definition
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Term
| found in immobilized patients and in postmenopausal women; due to bone absorption exceeds bone formation causing the bones to thin |
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Definition
Osteoporosis
(not due to Ca) |
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Term
| Autoimmune neuromuscular disease leading to fluctuating muscle weakness which is caused by antibodies that block acetylcholine receptors at the neuromuscular junction |
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Definition
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