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Phenotypic Inheritance Patterns of Genetic Disorders (Mitochondrial…
Phenotypic Inheritance Patterns of Genetic Disorders
Autosomal
Dominant
Marfan Syndrome
Neurofibromatosis
Skeletal Dysplasia (FRGFR3 mutations)
Hypochondroplasia
Thanatophoric dysplasia
Achondroplasia
Postaxial polydacyly
Retinoblastoma
Metabolic Disorders
Transport Disorders
Metals
Iron
Hereditary Hemochromatosis (Technically could be considered Autosomal Dominant based on underlying effects....maybe depends on envirionment)
Multifactorial
Familial hypercholesterolemia
Cardiomyopathy
Hypertrophic
Dilated (
can also be x-linked and mitochondiral
)
Diabetes
MODY
Recessive
Sickle Cell Anemia
Cystic Fibrosis
Metabolic Disorders
Carbohydrate Metabolism
Hereditary Fructose Intolerance
Von Gierke Disease
Classic Galactosemia
Amino Acid Metabolism
Maple Syrup Urine Disease
Phenylketonuria
Lipid Metabolism
Medium-chain acyl-coenzyme A dehydrogenase (MCAAD)
Steroid Synthesis
Congenital Adrenal Hyperplasia
Lysosomal Storage
Sphingolipidoses
Tay-Sachs
Niemann-Pick
Gaucher
I-Cell
Mucopolysacharoidoses (except Hunter)
Other
Scheie
Cognitive Deficits
Hurler
Snfilippo
Urea Cycle Disorders besides OTC Deficiency (may not need to know these(
Arginosuccinate synthase defect
Arginosuccinase defect
Carbamoyl Phosphate defect
OTC...
see X-linked branch
Transport DIsorders
Metals
Iron
See autusomal dominant
Copper
Wilson Disease
Cystinuria
Type II
Type III
Type I
Albanism
Other
Xeroderma pigmentosum
Myotonic Dystrophy
Prader Wili / Angelman Syndrome
X Linked
Dominant
Incontinentia pigmenti
Rett syndrome
Hypophosphatemic rickets
Recessive
Red-green color blindness
Duchenne's muscular dystrophy
Hemophilia A
Metabolic Disorders
MPS
Hunter??
Urea Cycle Disorders
OTC
Fragile X-syndrome
Y-chromosome ("Holandric" inheritenc)
no examples
Mitochondrial Disorders
Heteroplasmy Uncommon
LHON (Leber hereditary optic neuropathy )
Variable Expression (Heteroplasmy)
MELAS (Mitochondrial encephalomyopathy and stroke-like episodes )
MERRF (Myoclonic epilepsy with ragged red fibers)
Other Disorders Due to duplication and deletions
Pearson syndrome
Chronic progressive external opthalmoplegia
Kearns Sayre
Heteroplasmy possible
OXPHOS defects (some nuclear encoded proteins, but most follow mitochondiral inheretence pattern)
other multifactorials w/ unspecified inheretence patterns
cardiomyopathy
Long QT interval
Also see Autosomal Dominant Brank
Stroke
Protein C and S mutations
NOTCH3
Factor V Leiden
Also see mitchondrial inheretence
HTN
Liddle Syndrome
ENaC
Gordon Syndrome
WNK2, WNK4
Disorders of corticosteroid production
Renin-angiotensis system
Diabetes
Type II
some canidates (Calpain-10, PPAR-gamma), but don't really need to know specifics
Type I (Autoimmune)
Slight increas in risk (association)
HLA DR3
HLA DR4
100x increased risk (associations)
HLA DQ
Also see auosomal dominant branch
Ankylosing Spondolysis
HLA B27 (associated)
Obesiety
Leptin Deficiency
Appetitie control
Neuopeptide Y
MCR4
Alzheimer Disease
...there are a few autosomal dominatn cases, but most are sporadic
Presenilin 1 or 2
ApoE
APP
Liability Threshold
Pyloric Stenosis