Genetic Diseases 1
Genetic Diseases
Genetic Diseases
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Lernkarten
Smith Magenis Syndrome
Microdeletion/Microduplication pathology 1:25 000
intellectual disability, distinctive facial features, sleep disturbances, and behavioral problems.
The syndrome is due to an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome.
Angelman Syndrom
1:15000
Epigenic (imprinting) disorder
UBE3A gene (Ubiquitin protein: Important for protein degradation: removes damaged proteins)
Mental retardation, microencephaly, seizures, sleep disturbance, frequent laughing, smiling
Kearns Sayre Syndrom
Mitochondrial pathology
Paralysis of face/eye muscles
Marfan Syndrom
A-D de novo
1:5000
FBN1 gene. nonfunctional glycoprotein Fibrillin 1
Several CT defects (skeletal, eyes, heart, blood vessels, lungs, nervous system), tall + long limbs + fingers
Retinoblastoma
Incomplete Penetrance (80%)
Most common childhood eye tumor develops from immature cells of retina
RB1 gene
Neurofibratmotosis
Variable espressivity
Diffferent phenotypic expression
Tumors on peripheral nerves
Some only have prackles, some only light brown patches on skin
NF1 gene
1:2500-4000
Anchondroplasia
De novo mutation. 1:25000
Lethal genotype. FGFR3 gene
Non functional fibroblast growth factos receptor 3
Short arms + legs, dwarfism, abnormal cartilage formation
Huntington Disease
Late onset
A-D 1:10 000
Uncontrolled movements, damaged brain cells, progressive dementia, mood + cognition problems, degeneration of neurons
Extended CAG triplet repeat in Huntington gene
Full penetrance: >40
Familial hypercholesterolemia (FH)
1:500 Hetero, 1:10 00000 (homo)
LDL receptor gene which carries cholesterol is not removed from blood
non functional LDL receptor
Deposit of Cholesterol in tissue
Alkaptonuria
A-R
Homogentisate 1,2 deoxygenase
Homogentisic acid + itsoxide accumulate in blood -> excreted in urine in large amounts
Enzyme missing .> black colour accumulates -> arthritis
Gene HGO 3q
Tay Sachs Disease
A-R
Red dot inr etina
Hexosaminidase A (deposit of GM2) Lysosomal storage disase -> Lys lacks disease -> deposit of gangliocytes
Cystic fibrosis
A-R
Mucus obstructs ducts of pancreas prevent digestive enzymes from reaching intestine
Respiratory system cant function normal
Cystic fibrosis transmembrane conductance regulator on Chrom 3
Mutation ond elta 508 gene
Ci - transport disturbed -> Water move disturbed
Very thick, sticky mucus produced + cant clean airways, cant breath normally
CFTR gene: Deletion of TTT nucleotids
Allelic heterogenity
Retinitis pigmentosa
Locus heterogenity
Pigments are deposited on retina
Albinism
A-R (oculocutaneous) eye+ skin
Deficiency of pigment melanin
Absence of Enzyme tyrosinase 8Enzyme needed to produce melanin)
Photophobia (sensitive to light) Nystagismus (uncontrolled eye movement)
