System based disorders II
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| Cystic Fibrosis | show 🗑
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| show | 15-20% neonates meconium ileus
>95% males infertile
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| Cystic fibrosis | show 🗑
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| show | deltaF508 (0.7 of ~1500 alleles)
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| Cystic fibrosis | show 🗑
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| Cystic fibrosis | show 🗑
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| Heritable Pulmonary Arterial Hypertension (HPAH) | show 🗑
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| Heritable Pulmonary Arterial Hypertension (HPAH) | show 🗑
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| Heritable Pulmonary Arterial Hypertenstion | show 🗑
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| Idiopathic Pulmonary Fibrosis (IPF) | show 🗑
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| show | TERT and TERC (short telomeres) or SFTPC in 8-15% multiplex or 3% simplex; all AD reduced penetrance;
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| Pulmonary Fibrosis | show 🗑
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| Idiopathic Pulmonary Fibrosis | show 🗑
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| Adenosine Deaminase Def | show 🗑
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| Adenosine Deaminase Def | show 🗑
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| show | antibiotic, antifungual, IV immunoglobulin (IVIg), Pneumocystis prophylaxis, bone marrow/stem cell transplant; PED ADA ERT
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| show | humoral immune def after 24/12 (often young adults), sinopulmonary (Strep, H flu, Kleb pn), meningitis after bacterial infections, chronic diarrhea, malabsorption, +/- lymphoid hyperplasia, autoimmune, lymphomas
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| Common Variable Immune Def (CVID) | show 🗑
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| show | loss RAC1, CD19, BAFFER protein; TNFRSF13B (TAC1)10-15%, ICOS (<1%), muts (AD, AR)
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| Common Variable Immune Def (CVID) | show 🗑
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| AD Hyper IgE syndrome | show 🗑
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| show | IgE >2000 IU/mL (~15X)
STAT3 gene (AD)
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| show | rx: antibiotics to prevent Staph absecess/pn
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| X linked hyper IgM syndrome | show 🗑
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| X linked hyper IgM syndrome | show 🗑
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| show | allogenic hematopoietic cell transplantation, recombinant granulocyte stim factor (G-CSF) for neutopenia, antibiotics
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| show | Immune dysregulation, Polyendocrinopathy, Enteropathy; watery diarrhea, eczema, diabetes, autoimmune thyroid, anemia, low polys and plts, tubular neuropathy
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| show | FOXP3 muts in ~25% affected males (XL)
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| show | rx: immunosuppression, steriods, granulocyte stim factor, bone marrow transplant
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| XL SCID | show 🗑
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| XL SCID | show 🗑
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| show | rx: antibiotics (esp pneumocystis, IVIg, bone marrow transplant ASAP, gene therapy?
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| show | SCID presents in 1st yr, recurrent bacterial, viral, and opportunistic infections, diarrhea, oral moniliasis, FTT, Pneumocystis, usually die by 2 yrs unless stem cell transplant
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| show | due to abnl T cell receptor signaling; low CD3,4,8 T cells; ZAP70 muts (AR)
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| show | IVIg, antibacterial,-fungal, -protozoal, allogenic HSCT within 3/12; avoid live viral vaccines
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| show | thrombocytopenia +/- anemia w 1 or more of the following: plt dysfx, mild beta thal, neutropenia and congen erythropoietic porphyris in males
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| show | rx: plt or rbc transfusions, avoid ASA, NSAIDs
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| Hemophilia A | show 🗑
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| Hemophilia A | show 🗑
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| show | hemophilia center, IV F8, DDAVP, avoid ASA, IM injections, impact sports and activities, and always rx before circumcision
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| Hemophilia B | show 🗑
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| show | low F9 clotting activity; F9 mut in 100% of affected males (XL), dels/dups 3%
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| Hemophilia B | show 🗑
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| Sickle Cell Disease | show 🗑
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| show | HBB muts B(s) Glu6Val, B(c), B(punjab), B(arab) - all AR; SS and SC <3.6% and Sb(thal) >3.6% Hb A2
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| show | rx: hydration, transfusion, penicillin, hydroxyurea, rx PAH phosphodiesterase inhibs/nitric oxide
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| Alpha Thalessemia | show 🗑
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| Alpha Thalessemia | show 🗑
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| Alpha Thalessemia | show 🗑
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| Hb Bart syndrome | show 🗑
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| HbH | show 🗑
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| alpha thal trait | show 🗑
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| show | 1 null alpha gene
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| Beta Thalessemia | show 🗑
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| show | RBC indices, dec Hb A2 and inc Hb F >12 months; nucleated RBCs
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| show | rx; regular transfusion, Fe chelation, bone marrow transplant, splenectomy?; monitor endo function; avoid EtOH & iron meds
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| Thiamine Responsive Megaloblastic Anemia | show 🗑
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| Thiamine Responsive Megaloblastic Anemia | show 🗑
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| show | rx: anemia corrected by high dose Thiamine (B1), RBC remain macrocytic and SNHL irreversible
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| XL Adrenal Hypoplasia Congenita (AHC) | show 🗑
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| show | NROB1 (DAX1) dels in 100% with glycerol kinase def +/- DMD; but point muts in nearly all isolated AHC
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| XL Adrenal Hypoplasia Congenita (AHC) | show 🗑
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| Antley Bixler (cyto p450 oxidooreductase def) | show 🗑
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| show | sterol/steriod abnormalities, POR muts (AR)
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| show | rx: tracheostomy, cortisol, surgery for craniosynostosis and hypospadias
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| Congenital Adrenal Hyperplasia | show 🗑
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| show | CYP21A2 panel of 9 seq or del/dups detect 80-98% (AR)
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| Congenital Adrenal Hyperplasia | show 🗑
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| show | ACTH causes adrenal hyperplasia and overproduction og 17OHP and hormones
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| show | Hypoglycemia (ranges from severe neonatal to mild childhood onset)
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| show | ~45% ABCC8 and 5% KCNJ11 (AR), ~5% GLUD1 and 5% HNF4A (AD w anticipation)
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| show | rx: IV glucose, diazoxide, etc, diet, pancreatic resection, avoid fasting
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| show | low LH and FSH w hypogonadism, +/- micropenis/cryptochidism, small testes, absent puberty, 60% anosmia (aka Kallmann), bimanual synkinesis
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| Isolated Gonadtropin Releasing Hormone (GnRH) def | show 🗑
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| Isolated Gonadtropin Releasing Hormone (GnRH) deff | show 🗑
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| PROP1 related combined pituitary hormone def | show 🗑
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| PROP1 related combined pituatary hormone def | show 🗑
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| PROP1 related combined pituatary hormone def | show 🗑
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| show | Rhizomelic short stature, macrocephaly/inc ICP; kyphosis, lordosis, narrowing interpedicular distance, trident hand, genu varum, cranio-cervial compression and spinal stenosis
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| show | dx: signs and x-rays;
FGFR3: Achondroplasia 98% G>A transition due to CpG results in Gly380Arg; Hypochondroplasia Asn650Lys C>A and 21% C>G
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| Achondroplasia and Hypochondroplasia | show 🗑
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| Osteogenesis Imperfecta | show 🗑
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| show | non-deforming with blue sclerae
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| show | perinatal lethal
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| show | progressively deforming
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| show | variable OI with nl sclerae
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| show | dx: FHx (fx/signs), X rays (fx, wormian, codfish vertebrae and oseopenia);
COL1A1/2 molecular test and/or biochemical analysis of type 1 collagen
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| show | 2:1
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| Osteogenesis Imperfecta | show 🗑
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| show | rx: orthopedic and otolaryngology management, periodic dental and hearing eval; bisphosphonates, oral alendronate or risedronate and GH may reduce fx, increase bone density and improve growth
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| show | Fx, no dentinogenesis (D) or hearing loss; abnl vertebrae and hyperplastic callous
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| show | IFITM5 (AD)
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| show | SERPINF1 (AR)
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| OI VII | show 🗑
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| OI VIII | show 🗑
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| OI VIII | show 🗑
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| OI IX | show 🗑
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| OI IX | show 🗑
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| show | Achondrogenesis 2;
Kniest,
SED,
Stickler
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| Achondrogenesis Type 2 (Langer Saldino) | show 🗑
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| show | short stature and trunk (platysopondyly); hearing loss; myopia and retinal detach (MRD and cataract;
COL2A1 (AD)
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| show | flat face/CP, MRD, abnl vert, cervical myelopathy;
COL2A1 (AD)
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| show | flat face, MRD and cataract, HL, CP +/- Robin;
COL2A1 (85%) and COL11A1 (10-15%)
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| show | short limbs, nl skull, hitchhikers thumbs, spine (scoliosis, lordosis, kyphosis), joint contractures and osteoarthritis, CP 1/3, cystic ears 2/3, club feet
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| show | clinical and radiologic confirmed by SLC26A2 >90% have seq variants
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| show | rx: PT, casting, ortho surgery with caution as deformities tend to recur, watch C spine for cord compression
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| show | 5 types:
1.classic (i and ii) 2. hypermobility (III) 3.kyphoscoliotic (vi) 4. vascular(iv)
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| show | skin hyperextensible, abnl wound healing and joint hypermobility
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| show | soft skin, dislocation, pain +/- aortic dilation
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| show | friable, hyperextensible skin; scars, bruising, hypotonia, progressive scoliosis and fragile sclerea
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| Vascular EDS (iv) | show 🗑
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| show | ~50% have COL5A1/2 seq, del/dup (AD)
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| Hypermobility EDS (iii) | show 🗑
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| show | increase deoxypyrimidine/pyrimidine ration in urine (HPLC) due to def lysyl hydroxylase (PLOD1) activity (fibroblast); PLOD1 seq?; del/dups ~18% (AR)
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| Vascular EDS (iv) | show 🗑
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| Classic EDS (i and ii) | show 🗑
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| Hypermobility EDS (iii) | show 🗑
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| show | rx: ortho, opthal, pregnancy risk and avoid cs
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| show | avoid contact sports and arteriography
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| show | ocular (myopia, ectopia lentis); skeletal (dolichosternomelia, pectus, scoliosis); aoritc dilation/tear/rupture/MV prolapse
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| Marfan syndrome | show 🗑
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| Marfan syndrome | show 🗑
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| show | vascular (CNS, thoracic and abdominal arterial aneurysms/dissections) and skeletal (pectus excav/carin, scoliosis, lax joints, arachnodactyly and clubfeet).
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| LDS type I | show 🗑
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| show | 25%
velvety/translucent skin; atrophic scars
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| Loeys Dietz | show 🗑
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| show | rx: aortic dissection at smaller diameters than MFS, beta blockers, C spine instability, avoid contact sports and CV stimulants
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| show | joint pain (hips and knees), malformations (hands, feet and knees) and scoliosis;
50% had clubfoot, clinodactyly or CP at birth; adult Ht 150-180 cm
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| Multiple Epiphyseal Dysplasia | show 🗑
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| show | rx: orthopedic, avoid sports involving joint overload and caution with NSAIDs
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| Pseudoxanthoma Elasticum | show 🗑
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| show | dx: skin and eye findings and skin biopsy; ABCC6 seq ~90% both alleles w dels in 5-30% (AR)
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| show | rx: intraocular injections for macular degeneration; avoid contact sports, ASA, NSAIDs, retinal exams in pregnancy
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| show | ear pits, tags, anomalies causing deafness >90%; branchial fistulae/cysts and renal hypoplasia, dysplasia or agenesis
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| show | BOR w/out renal anomalies
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| show | EYA1, SIX5, SIX1 seq, dups/dels in 40% (AD) with 10% de novo
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| show | rx: excision fistulae/cysts, ear surgery, aids, cochlear implants
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| show | eyes: cataracts, glaucoma and poor vision; CNS: hypotonia, absent DTRs and 75-90% mild to severe delay; Renal: Fanconi, RTA, renal
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| show | OCRL seq variant in 95% affected males and carriers (XL); enzyme in fibroblasts
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| show | rx: remove cataracts, GERD; oral Na/KHCO3, PO4 and calcitriol; avoid contact lens
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| Polycystic kidney disease (AD) | show 🗑
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| show | dx: renal imaging; 85% PKD1 and 15% PKD2 most seq but few del/dups (AD); contiguous PKD1 and TSC2 del > PKD in utero and Tuberous Sclerosis; rare early onset PKD with neg FHx due to hypo morph PKD1 in trans
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| show | rx: hypertension, pain, cyst decompression, nephrolithiasis, clip small and aortic replacement for large aneurysms; avoid nephrotoxic, caffeine and smoking
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| show | neonates with enlarged echogenic kidneys: ~45% hepatomegaly, dilated bile ducts and echogenicity; pulmonary hypoplasia w 30% dying by 1 yr of resp insuff and >50% have renal failure in first decade
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| show | dx: clin findings in absence of renal cysts in parents; ~80% PKHD1 seq variants, dups/dels seen
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| Polycystic kidney disease (AR) | show 🗑
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| UMOD associated kidney disease | show 🗑
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| UMOD associated kidney disease | show 🗑
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| show | rx: allopurinol/probenecid for gout; nepherology management, peritoneal dialysis, renal transplant; avoid nephrotoxic meds, dehydration and meats
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Created by:
amrs
Popular Genetics sets