-
Acanthocytosis
- Increased cholesterol in the RBCs membrane
- Haemolytic anaemia, jaundiced
- AR
-
Hereditary Spherocytosis
- Spectrin deficiency or other RBC membrane unit
- Haemolytic anaemia, jaundiced, gall stones
- AD
-
Emery-Dreifuss
- Emerin or LaminA/C
- contracture, muscles weakness
- childhood
- X-linked but can be autosomal
-
Dilated Cardiomyopathy
- Lamin A/C, Actin mutation at Z-disk
- Congestive heart failure, Large heart, thin walls
- AR
-
Lipodystrophy
- LaminaA/C, Interaction with adipocyte TF
- Fat face, muscular body
- AR
-
Progeria
- Lamina A, Bleb formation in nucleus
- Premature aging
- 1 in 4 mil
- early presentation
- AD-mixed
-
Spinal Muscular Atrophy
- Mutation in Motor neuron--> loss of motor neurons
- Muscle weakness, atrophy, hypotonia
- 1 in 40 are carriers
- Sudden onset, rapid progression
-
Cystic Firbrosis
- Incorrectly folded protein of the Cl- ion channel
- chronic chest infection
- sweat test
- AR
-
Hypercholestrolemia
- Mutation in LDL-receptor-> increase in plasma cholesterol
- atherosclerosis
- AR
-
I-Cell
- Lack of M6P tag b/c NAcG Phos mutation-->waste products accumulate
- Tagged in cis-golgi
- Skeletal issues, coarse features
- Milder form is pseudo-hurler
- Mucolipidosis
-
Gaucher Disease
- Glucocerebroside mutation
- Megaly, skeletal issues
- Most common lipidosis disease
-
Hurler Syndrome
- alpha-L-iduronase--> GAG accumulation
- megaly, hirsutism, CORNEAL CLOUDING
- MPS
- AR
- Shie-Hurler is milder form
-
Hunter Syndrome
- iduronate sulphatase
- NO CORNEAL CLOUDING
- MPS
- X-Linked
- Morquio/Sanfillipo
-
Chediak-Higashi
- CHS1/LYS-lysosomal trafficking protein mutation
- Granular defects due to lysosome fusion delay
- Albinism, recrurrent infections and coagulation issues
-
Zellweger Spectrum
- PEX mutation--> failure to import peroxisomal proteins--> empty peroxisome
- Cannot recognize SKL tage sequence
- abnormal dev., megaly, liver failure
-
Barth's Syndrome
- Defective Cardiolipin synthesis
- Fatigue, cardiomyopathy
- x-linked
-
X-linked Adrenoleukodystrophy
- Defective membrane protien that imports VLCFAs-->aggregation
- Spasticity, ataxia, visual loss
- Most Common
-
Progressive external ophtalmoplegia (PEO)
- DNA Pol Gamma mutation
- Bilateral ptosis, eye muscles weaking
- 18-40
- AD
-
MELAS
- mtDNA tRNA-leucine
- short stature, strokes, always heteroplasmic
- mtDNA
-
MERRF
- mtRNA tRNA lysine
- myoclonic epilepsy, Ragged Red Fibers
- always heteroplasmic
- mtDNA
-
LHON
- missense mutation of complex 1
- bilateral vision failure
- may be homoplasmic
- mtDNA with X chromosome impacting penetrance
- presents at 24
-
NARP
- ATPase 6 gene
- ataxia, pigmentary retinopathy
- Leigh Syndome
-
KSS
- Giant Deletions
- PEO with cerebrallar ataxia
- no bone marrow
- late onset
- mt
-
Pearson
- Giant deletions
- similar to KSS
- with bone marrow
- pediatric
- mtDNA
-
NIDDM
- downregulation of insulin receptor
- Hyperglycemia-Type 2
-
Retinitis pigmentosa 4
- mutation in Rhodopsin
- loss of night and peripheral vision
-
Alzheimer's
- beta-sheet aggregation, NFTs
- memory loss and disorientation
- Apo E4 risk factor
- Apo E2 reduced risk
- Can be genetic or acquired
-
Familiar MND/ALS
- Dynactin Subunit
- Motor neuron degredation
-
Primary Ciliary Dyskinesia
- Axonemal dynein defect --> immotile cilia and sperm
- infertility, recurrent infection
- 50%=Kartagener's, w/ situs inversus
- AR with variable penetrance
-
Epidermis Bullosa Simplex
- Keratin 5,14, basal layer
- blisters
- IF
- AD
-
Epidermic hyperkeratosis
- Keratin 1 and 10, Supra basal, multiple keratinocytes
- Keratinized blisters
- IF
-
Epidermic Plantopalmar Keratonoma
- Keratin 9
- Blisters on hands and feet
-
Wiskott-Aldrich Syndrome
- no actin nucleation and disruption of signalling
- thrombocytopenia, ezcema
- Immunodeficinecy
- X-linked
-
Familial Hypertrophic Cardiomyopathy
- cardiac form myosin II, less contraction bigger muscle
- asymptomatic
- sudden fatal cardiac arrest
- AD
-
Desmin Related Myopathy
- Desmin muation, aggregation, filament interruption
- cardiac and respiratory failure
-
Duchenne MD
- Total absence of dystrophin
- Gower's sign, calf pseudohypertophy
- Most Common
- X-linked, some mosaicism
-
Becker's MD
- Abnormal dystrophin
- Similar DMD symptoms
- later onset
- mini dystrophin protein used for treatment
- Xlinked
-
Myotonic Dystrophy
- Myotonin protein kinase
- cataracts, Facial weakness
- Trinucleiotide repeat with anticipation
- AD
-
Faciscapulohumeral MD
- Subtelomeric tandem repeat
- Weaknes of selected muscles
- AD
-
Limb Girdle MD
- Two Types
- a b y s sarcoglycans
- muscles weakness in arms and legs
- AR and AD
-
Marfan Syndrome
- C.t fibrillin defect
- Abe lincoln
- AD
-
Ehlers-Danlos
- Defect in collagen synthesis
- Hyperflexibility
-
Bullous Pemphigoid
- autoantibodies to hemidesmosomal proteins
- subepidermal blisters
-
IBS
- Crohns/Ulcerative collitis
- abnormal inflammatory response
- Crohns-distal
-
Botulism
- Prohibits ACh by cleaving vsnares
- Flaccid paralysis
-
Tetanus
- cleaves vsnares prevents inhibitory transmitters
- Spastic paralysis
-
Gout
Build up of Uric acids in joints
-
Cholera
- stimulates Cs -increased cAMP
- watery diarrhea
-
Pertussis
- inhibits Gi protein - increased cAMP
- whooping cough
-
Scurvy
- Vitamin C deficincy, weak CT
- bleeding gums
-
COPD
- digestion of alveolar tissue by macrophages by neutrophil elastase
- mutated alpha1-AT
- loss of elasticity
-
Diabetic Nephropathy
- Hyperglycemia--> downregulation of HSPG and increase in collagen
- Poor membrane in Glomerulus
- Kidney failure resulting in dialysis
-
Pemphigus
- Autoimmune defect of desmosome
- blisters in the oral mucosa
-
Charcot-Marie-Tooth
- missing connexin-32-->lack of intracellular gap junctions--> no nutrients
- atrophy of distal muscles, depressed tendons, hammer toes
-
Osteogensis Imperfecta
- Glycine mutation in Type 1 collagen--> @ C-Terminus more severe--> weak bones
- Blue sclera
- 1-mild
- 2-perinatal lethal
- 3-mild deforming
- 4-deforming
-
Alport
- mutation of type IV collagen basal lamina
- Kidney Failure
- Deafness
-
Goodpasture
- Auto-antiboides to Type IV
- similar to alport
-
Achondroplasia
- FGFR3 inhibitory expression in chondrocytes
- "driving with the brakes on"
- MOST COMMON DWARFISM
-
Leukucyte adhesion Deficiency
- Integrin Mutation--> impaired leukocyte chemotaxis
- Poor rolling and diapedisis
- life threatening bacteral infections
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