Disorders Flashcards
What is the deficit/symptoms of Alkaptonuria?
Homogentisic acid oxidase(Homo genocide)
Black connective tissue, sclera, and urine. Arthralgias when exposed to air.
(Al capone had such a black heart that it spread to everything else, He _gen_ocide the _homo_s, and when he walked out into the world he was wracked with guilt)
What is the deficiency/symptoms of Hartnup disease? Maple syrup urine disease? Cystinuria (how do you treat)? Albinism?
- *Can’t (re)absorb tryptophan_ (If I Heart ‘nough a celebrity, I trip up ‘cause I such a big fan, shit my pants/forget my name/break out on my face, hands, and feet/Die while shouting PELLAGRA. It be _Nice** if I didn’t do this (B3 also can cause))=> Pellagra
- *(EXCESS)Ile, Leu, and Val (branched aa.)_ => cns defects => death (_I_ _L_ove _V_ermonts maple syrup from _branching** trees so much it blows my mind)
lack of transfer => cystine kidney (Staghorn) stones (Treat by alkalizing urine)
Congenital lack of Tyrosinase/Tyrosine transporters => whiteness
What are the symptoms of Homocystinuria?
What is the main cause? How do you treat it?
What do you treat the “affinity” type with?
What do you treat the “methyltransferase” type with?
Tall, retarded, osteoporosis, lens subluxation (down/in), and atherosclerosis. (Think really tired tall fat artery guy needs B12 energy drink)
Cystathionine beta synthase deficiency. Treat by avoiding Methionine and give Cysteine/B12** (Better to be **Cyssy and be hooked on energy drinks then Meth)
Needs a lot of B6 (Affinity for “six” is paradoxical)
Needs B12** (Better to be _Cys_sy and be hooked on energy drinks then **Meth)
What are the main autosomal dominant disorders?
To be scary (Tuberous sclerosis**) dominant **MEN** you can’t be a little girly chibi or dwarf (**achondroplasia**). You have to have **My** muscle (**Myotonic Muscular Dystrophy), not all round (spherocytosis) and fat (familial hypercholesterolemia). You Can’t piss (AD polycystic kidney disease) or shit (Familial adenomatous polyposis**) your pants, you’re an **adult**. No googly eyes (**retinoblastoma**) with all the squiggly stars (**Hereditary hemorrhagic telangiectasia**) you must feel through the scars (**neurofibromatosis**). Also, don’t have a girly name like **Marfan**, **Huntington**, **von Hippel-Lindau**, or **Hutchinson-Gi**(r)**lford
Osler-Weber-Rendu syndrome?
Hemorrhagic telangiectasia, recurrent epistaxis, skin discolorations(Weber), and AV malformations
What are the main causes of Multiple Endocrine neoplasia (MEN)? Where is the deficiency? What are the symptoms?
Mutations in the MEN1 (Chromosome 11**. Type 1 = Parathyroid, anterior pituitary, and pancreatic islet cells), RET (MEN2 Chromosome **10. Type 2 = Thyroid is big difference), and CDKN1B genes (Other MEN).
(Think West Virginian MEN; Giant(Acromegaly) with weak bones and Diabetes. Also, Type T-t-t-t-two for Thyroid)
What is the deficiency/symptoms in Marfan syndrome?
Marfan is like a giant pinky (Narf, MAARRRFF, tall, lanky). Pinky got that way by lack of fibrillin (his fibers are chillin due to lack of fibrillin). Pinky’s aorta is gonna get him one day.
What causes Type I Dyslipidemia?
What causes hereditary hypercholestoremia (Type IIa)?
What is Dysbetalipoprotein (Type III)?
What is the proble in Type IV Dyslipidemia? What does that lead to?
What is the deficiency/pathology of Abetalipoproteinemia?
hyper-Chylomicrons (As 1st in path) due to lack of Lipoprotein lipase or apoC-II (for Chylomicrons) => pancreatitis, hepatosplenomegaly, and pruritic xanthomas (picture).
hyperLDL**, lack of LDL **receptors => atherosclerosis, tendon (Achilles) xanthomas, corneal arcus (white/grey/blue opaque ring on cornea).
Lack of Apo-E (thrEE) => excess all but HDL
Hyper-VLDL (IV) => pancreatitis
lack of ApoB-100 and 48 => (A)lack of chylomicrons => failure to absorb fats completely => fatty enterocytes, steatorrhea, acanthocytosis (spiked cell membrane RBCs), ataxia, and night blindness (Vitamin A deficiency)
What causes Charcot-Marie-Tooth Disease? what is the pattern?
Myelin sheath proteins**. Distal limbs (Think Charcot-Marie Vampire in the **Sheats)
What causes Achondroplasia? What are the symptoms? What are the major risks of Achondroplasia?
Constitutive(old paternal) activation of Fibroblast Growth Factor 3 (FGFR3) => lack of cartiladge going into bone (membranous unnafected). Bossing of forehead, bow-leg, exaggerated lordosis, and short-extremeties. Narrowing of foramen magnum/Spinal canal/ Intervertebral foramen (His mind is his gift and he must protect it)
Hutchinson Gilford does what?
Rapid aging
What are the mitochondrial disorders (Symptom/cause)?
Are you blind? Ech Mine Leber (Optic Neuropathy (NADH dehydrogenase complex I)) Kearn-sayre (syndrome (retinal degeneration, heart block, short, diabetes, deafness, and thyroid)) Are you blind? NAH, It is totally natzi
What are the X-linked recessive disorders?
G shucks (G6PD deficiency**) man, your **boy** **Hunter** is a bratty (**Bruton’s**) douche (**Duchenne muscular dystrophy**) biting his nails (**Lesch-Nyhan syndrome**) **wi**tch I _**kott** him doing **all** **d**_ay (**Wiskott-Aldrich**) by the way. He has those freaky red eyes (**Ocular albinism**) and I don’t think he even knows (**Color blindness**). He is so feminine (**Androgen insensitivity**) doing Faberge (**Fabrey’s**). He’s kind of sickly (**Hemophilia A/γ-chain subunit of cytokine receptors SCIDS)
What is the pathology of G6PD deficiency?
hemolytic anemia (with many drugs/situations) due to lack of protection (NADPH) => Heinz bodies (oxidized Hemoglobin precipitated in RBC) and Bite cells (Bites Heinz covered RBC)
What is the X-linked Dominant disease? Cause? Main symptom?
Fragile X syndrome = FMR-1 (Fragile Mental Retardation) = Retardation mostly expressive speech
What disorders have a wrong number of chromosomes? Which chromosome
Ya Down** **Ed** (**Edward syndrome**) cause of **Turner, she is hardly even a woman? I’m 21 (Down) and you’re 18 (Ed) when you weren’t even supposed to live past the womb with your weird hands. And you know, Kline felt** h_er_ up, the girly man. Here have 13 **pata**es (**Patau) for your owey, they are just like you with no weird hands, it’s nobody fault but time
What are the aberration translocation diseases? Which chromosome(s)?
- cri and (du) chat like a cat for a short 5 minutes stupid.
- You’re an old (chronic) white (leukemia) tranny (translocation) from Philadelphia. It’s in your bones (myelo(bone marrow)genous). Even though you were a 9 when you were 22
- Unlike your brother Burkitt (BCL-2). Now he was a tranny, everyone would say work it Burkett. He was all the way to an 8 when we was just 14, but then he got Lymphoma.
What are the symptoms/chromosome microdeletion of Digeorge syndrome?
Williams syndrome?
CATCH (Cleft palate, Abnormal facies, Thymus hypoplasia, Cardiac Defects, Hypocalcemia due to lack of PTH) 22.
little (microdeletion) elf, has frollicked and didn’t speak ‘til 7. He is so sensitive to the sun’s gifts (Vitamin D) that he is a little hyper (calcemia) and slow to the ways of man (mental retardation)
What are the symptoms of B-complex deficiency?
Vitamin A deficiency?
Thiamine (B1) deficiency?
Vitamin B2 deficiency?
dermatitis, glossitis, diarrhea, and depression
Night blindness, dry skin
BeriBeri (Ber1Ber1) => dry = polyneuritis/symmetric m. wasting and/or wet = high-output cardiac failure/edema. Wernicke-Korsakoff =>Confusion, ataxia, and ophthal-moplegia (damages medial dorsal nucleus of thalamus and mammillary bodies).
_C_heilosis (inflamed lips with scaled edges) and _C_orneal vascularization (2 C’s of B2)
What are the symptoms of Vitamin B3 (Niacin) deficiency?
Vitamin B5 (Pantothenic acid) deficiency?
Vitamin B6 (Pyridoxal Phosphate) deficiency?
Biotin (B7) deficiency? What could cause this deficiency?
Vitamin B12 deficiency?
Folate deficiency?
3 D’s (Diarrhea, Dermatitis, Dementia. Pellagra)
Dermatitis, Enteritis, alopecia, adrenal insufficiency (No worries, let it Pan out)
Convulsions/irritable/peripheral neuropathy/sideroblastic anemias (Paradoxically like lead poisoning)
Dermatitis, alopecia**, enteritis. From excessive raw egg/antibiotics (**AVIDIN in egg whites)
Macrocytic, megaloblastic anemia, hypersegmented PMNs, neuro symptoms, from animal products Schilling test is to check for this
very similar to B12, but from _Fol_iage/smaller reserve, and _NO_ neuro
What are the symptoms of Vitamin E deficiency?
Zinc deficiency?
Copper deficiency?
Fragility** of **Erythrocytes, muscle weakness, posterior column and spinocerebellar tract demyelination
Delayed wound healing, hypogonadism, decrease in adult hair, dysgeusia, anosmia, and predisposes to alcoholic cirrhosis
Fragile silver hair, depigmentation of skin (tyrosinase), muscle weakness, neurological abnormalities, microcytic/hypochromic anemia, neutropenia, and osteoporoses (defective collagen)
What are the symptoms of Wiskott-Aldrich? What is the cause of it?
multiple ear and skin infections, Hemangioma, severe ecsema, and immunodeficiency (IgM deficiency and IgA excess). WASp on X chromosome.
What is the inheritance pattern of Huntington? What are the symptoms? What is the cause? What is the big deal with having children?
Autosomal dominant.Choreoathetoid (twitching with writhing) movements of the face and limbs, progressive dementia, and early death. CAG repeat on chromosome 4 => glutamate toxicity => Atrophy of Striatal nuclei. Anticipation; it only gets worse
What is cause/symptoms of Duchenne? Friedreich? Becker’s? Myotonic?
Duchenne = X-linked recessive, complete absence of the dystrophin gene => myofibril membrane degeneration => replaced by fibro-fatty tissue => Pseudo-hypertrophied calves, presents 2-3 yo, proximal muscle weakness (Gower’s sign getting up)
Friedreich ataxia = GAA repeat in frataxin gene => childhood neurologic dysfunction, “hammer toes”**, **hypertrophic cardiomyopathy, DM, presents by 5 yo, loss of proprioception/vibration/DTR
Becker = X-linked, dysfunctional dystrophin gene => milder in dystrophy/retardation/onset
Myotonic = Autosomal dominant Adult-onset** 20-40 yo => MSK **rigidity, slow relaxation, weakness in face and limbs => long/narrow face, high arching palate, and loss of grip strength
What are the 4 types of glycogen storage diseases? What is defective? What are the symptoms? What is main treatment?
Von Gierke’s disease/Glucose-6-phosphatase/excessive storage and severe fasting hypoglycemia. Pompe’s disease/Lysosomal α-1,4-glucosidase (acid maltase)/destroys Pumps (heart, liver, and muscle) like a volcano.Cori’s (think Sheela’s friend) disease/Debranching enzymes/Pretty mild form. McArdle’s disease/muscle glycogen phosphorylase/McArdle’s painful/weak Muscles. Sucrose before/during stress allows access to glucose.
(Very Poor Carbohydrate Metabolism)
What is the deficiency of Fabry’s disease? What are the symptoms of Fabry’s disease?
α-galactosidase A (because the Egg came first). Peripheral neuropathy/angiokeratomas (small red/blue keratus marks)/CV/renal disease (Faberge eggs has red/blue dots, if you eat it you will break your heart/kill your kidneys, and an egg has no arms/legs (peripheral neuropathy))
What is the deficiency of Gaucher’s disease? What are the symptoms of Gaucher’s disease?
Glucocerebrosidase. Hepatosplenomegaly, aseptic necrosis of femur, bone crises, and Gaucher’s cells(Grouch from sesame street is a heavy IV abuser, no legs/bones, he’s progressively becoming numb, and full of “crumpled tissue paper” in his trash)
What is the deficiency of Niemann-Pick disease? What are the symptoms of Niemann-Pick disease?
Sphingomyelinase. Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cell. (Neumann picks his nose with his sphinger, his eyes glow red, hepatosplenomegaly from drinking, even his macrophages are fat, and numb to insults)
What is the deficiency of Tay-Sach’s disease? What are the symptoms of Tay-Sach’s disease?
Hexosaminidase A. Progressive neurodegeneration, retardation, cherry-red spot on macula, lysosomes with onion skin, NO hepatosplenomegaly. (Tay-SaX lacks heXosaminidase and is XR, Tay, the retard, scratched an onion design into a drug dealer’s ride and thrown into a Sach and beat tell he’s numb and bleeding from his eyes). Excess gangliosides
What is the deficiency of Krabbe’s disease? What are the symptoms of Krabbe’s disease?
β-galactocerebrosidase (Then the Crab left the egg). Peripheral neuropathy, retardation, optic atrophy, globoid cells (globular PMN cells). (MudKrabbe’s are stupid, have hard shells, have tiny atrophied eyes, and are a big globular mess)
What is the deficiency of Metachromatic leukodystrophy? What are the symptoms of Metachromatic leukodystrophy?
Arylsulfatase A. Central and peripheral demyelination with ataxia, dementia. (Ariel is the whitest Meta-human ever!, she has troubles walking, and forgot that the squid lady was evil)
What is the deficiency of Hurler’s syndrome? What are the symptoms of Hurler’s syndrome?
α-L-iduronidase. Retardation, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. (Idiot gargoyles with dead eyes, how do they even breathe? They make me want to Hepatosplenomegaly Underdeveloped Recessive α-L-iduronidase)
What is the deficiency of Hunter’s syndrome? What are the symptoms of Hunter’s syndrome?
Iduronate sulfatase. Mild Hurler’s, but aggressive and no corneal clouding. (Hunters see clearly, aim for the X, are persistant and do NOT make me want to HurL. Still an Idiot though)
What are the diseases with increased risk if Ashkenazi Jews?
Tay-Sachs, Niemann-Pick, Gaucher (Jews like Nuemann are Grouches and love money Sachs)
What does Xeroderma pigmentosum mean? What is the deficiency in Xeroderma pigmentosum? What does that mean?
Dry skin and pigmentation. Inability to repair thymidine dimers (Nucleotide excision repair). Can’t handle UV exposure.
What is the deficit/symptoms of I-cell disease? Chédiak-Higashi syndrome? Kartagener’s syndrome?
failure of the golgi apparatus (I sell get out of jail free cards) to target proteins to the lysosomes => coarse face, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes (usually fatal). defect in fusion of phagosomes/lysosomes (I fail to see how Chediak and Higashi go together; must have been a lot of heated debates, loss of feeling, and weird having half being white and the other not) => recurrent pyogenic infections, partial albinism, and peripheral neuropathy. dynein arm (Kartagen sweater arms) defect => immotile cilia => Respiratory and fertility problems, associated with situs inversus.
What is the deficiency/symptoms of Ehlers-Danlos? Alport syndrome? Marfan’s syndrome? Osteogenesis imperfecta? Vitamin C deficiency?
Collagen ThreE Deficit => Hyperextensible skin, easy bleeding, flat foot, teeth crowding, and hypermobile. Artery/Organ rupture is main concern. Collagen IV (Fly away from the basement in a ‘airport’). Usually X-recessive => hearing/visual/kidney degredation. defective fibrillin (Chromosome 15) => stretchy => aortic rupture is main risk. AD with abnormal type I => brittle bones (hearing loss), blue sclera, bad teeth (lack of dentin). Defective collagen in general
What is the deficiency/symptoms of Prader-Willi syndrome? AngelMan’s syndrome?
Paternal defect in chromosome 15, mental retardation/ hyperphagia/hypogonasism/hypotonia. Maternal defect in chromosome 15, mental retardation/seizures/ ataxia, and inappropriate laughter. (At 15, having babies is wrong. Thanks to Prader’s micro(deletion) willi there is one more fat/weak/retard. Mommy’s little Angelman is retarded/seizes/can’t walk and laughs inappropriately)
What is the deficit/symptoms of phenylketonuria?
Phenylalanine hydroxylase => Stupid Mousy man with seizures, enamel defect, eczema, fair skin. My mouse alan is so Phun, he phyls you with joy as you see him seize, has tiny brain, bad teeth, white rat, and bad skin. TYROSINE is Essential
What is the cause/symptoms of Von Hippel-Lindau disease?
deletion of VHL on chromosome 3 (3 names) => HIF => multiple bilateral renal cell carcinomas and other tumors
What is the deficiency/symptoms of Hereditary spherocytes?
spectrin** or **ankyrin => extravascular hemolytic anemia (Think boat anchor and ghost pirate specter, without it is not a boat)
What is the most common cause/key symptom/associated risks of AD Polycystic Kidney Disease?
What causes Familial adenomatous polyposis? What happens if it is not resected?
What are the main features of Neurofibromatosis Type 1? Type 2?
What does Rb do?
What is Li-Fraumenni syndrome? Main characteristics?
always bilateral**, most are due to **PKD1 (chromosome 16), have to be careful of polycystic liver, berry aneurysms, and mitral valve prolapse
APC gene (chromosome 5 (Jackson 5’s easy as ABC is cancerous to the colon)). It will become cancerous
Neurofibromin/blastomas/Café-au-lait-spots/lisch nodules.
Bilateral vestibular schwannomas (CN VIII)/cataracts/Schwanomin
Keeps cells in G1. Key for Retinoblastoma
Autosomal dominant deficiency of p53. Early onset with a wide array of cancers.
