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System Related Disorder I

Oculocutaneous albinism decreased melanin poor vision
Oculocutaneous albinism OCA1: tyrosinase OCA2: P protein gene (2.7kb deletion in AA pts) OCA3: TYRP1 -rufous-AA OCA4: MATP
Hemansky-Pudlak (albinism) abnormal platelets
Hemansky-Pudlak (albinism) HPS1 in Puerto Rican HPS3 in Puerto Rican and AJ
Chediak-Higashi (albinism) immunodeficiency bleeding lymphoproliferative disorder
Chediak-Higashi (albinism) LYST gene
Ocular (albinism) poor vision normal skin
Ocular (albinism) XLR GPR143
Ectodermal Dysplasia (hypohidrotic) Sparse hair, abnormal teeth, reduced sweating
Ectodermal Dysplasia (hypohidrotic) XLR: EDA gene AR: EDAR and EDARADD
Ectodermal Dysplasia (hydrotic) sparse hair, abnormal nails, palmoplantar hyperkeratosis
Ectodermal Dysplasia (hydrotic) GJB6
Incontinentia Pigmenti Streaky hyperpigmentation (erythema, vesicular verrucous phases) abnormal teeth and hair; neovascularization of retina; neurological problems (szs, DD)
Incontinentia Pigmenti XLD male lethal IKBKG gene 80% deletion
Ichthyosis AR congenital (collodion baby) milder form - erythema and lamellar
Ichthyosis multiple genes TGM1 (50-60%)
Epidermolysis Bullosum blistering of skin; dystrophic - with scarring - blistering below basement of membrane simplex - non-scarring - blistering above basement of membrane
Epidermolysis Bullosum AD or AR - COL7A1 (dystrophic) KRT5 or KRT14 (simplex)
Alpha-1-Antitrypsin pulmonary emphysema (het and hom) hepatic cirrhosis (hom)
Alpha-1-Antitrypsin Pi type-electropheretic mobility -inhibitor of neutrophil elastase; -M allele in 95% EA alleles w/ dec prod or function; null mut only assoc w/ emphysema -Z allele: glu to lys at 342 (10-15% Pi actx,impaired release from hepatocytes liver toxicity
Alpha-1-Antitrypsin treatment: no smoking, antioxidants (vit E), transplantation, alpha-1-AT augmentation
Hirschsprung Disease Congenital intestinal aganglionosis (80% rectosigmoid, 15-20% to sigmoid) 5:1 males to females
Hirschsprung Disease RET gene (AD LOF) other genes(rare): GDNF, NRTN, EDNRB, EDN3, ECE1 12% occur as component of syndrome (some chromosomal, esp Down syn)
Alagille syndrome deficiency/atresia intrahepatic bile ducts; cholestasis, neonatal juandice; skeletal anomalies, ocular anomalies; characteristic facial appearance
Alagille syndrome AGS1 - 94 % (JAG1 - ligand for Notch recptor) AGS2 (NOTCH2)
Criglar-Najjar syndrome loss of bilirubin conjugation UGT1A1 def CN1 - bili 20-40 mg/dl CN2 - bili 5-20 mg/dl
Gilbert syndrome reduced expression due to promoter polymorphism mild/intermittent hyperbili
Duben Johnson syndrome benign MRP2/ABCC2 deficiency
Progressive familial intrahepatic cholestasis ATP8B1 ABCB11, ABCB4
Hemochromatosis excessive Fe absorption
Fe overload in tissues causes cirrhosis diabetes mellitus heart failure more severe mainfestations in males
Hemochromatosis treat with phlebotomy 1 pt = 250 mg Fe
Hemochromatosis AR (1/400 caucasians) carrier freq = 1/10 HFE gene in HLA complex 85% of mutations are C282Y (C282Y/C282Y, C282Y/H63D affected; H63D/H63D may be unaffected)
Familial Hypercholesterolemia def in LDL receptor het (1:500) hypercholesterolemia, atherosclerosis; hom: xanthomas, premature atherosclerosis
Familial Hypercholesterolemia treatment w/ diet, statins, other cholesterol lowering drugs
Retinitis Pigmentosum degeneration of photoreceptors or retinal pigment epithelium; Night blindness, progress visual loss; Abnormal ERG and visual fields
Retinitis Pigmentosum multiple genes/modes of inheritance digenic inheritance
Deafness 50% prelingual deafness 30% of which nonsyndromic
GJB2 both AR and AD
MYO7A both AR (Usher) and AR/AD (Deafness)
Autism-Spectrum Disorders Deficits in social interactions, restricted interests/repetitive behaviors, language/communication
Autism-Spectrum Disorders Categories: autistic disorder, asperger syndrome (normal language), PDD-NOS
Autism-Spectrum Disorders Associated Features: regressive onset in 30%, szs 25%, dysmorphology 15-20%, microcephaly 5-15%, macrocephaly 30%
Autism-Spectrum Disorders genetic cause found 20-25%; if cause unknown, sib risk 5-10% for ASD, 10-15% for milder abnormalities i
Autism spectrum disorders cytogentically visible changes 5%; 15q11-q13 dup (mat der) 1-3%; Trisomy 21 (7%) 45,X Turner syndrome Deletions (2q37, 7q11.23 WS, 8q, 15q11 PWS, 22q13, Xp22.3)
Autism spectrum disorders CNV 7-10%
DD (lang > motor) may be inherited from parent
15q13.3 deletion Intellectual disability Epilepsy CHRNA7
Autism spectrum disorders single gene Fragile X; PTEN macrocephaly syn; Sotos; Rett; Tuberous sclerosis complex; metabolic disorders (mito, PKU, adenyloscuccinate lyase, creatine def dis, SLO)
Psychiatric disorders multifactorial, some candidate genes overlap between disorders, 22q11.2 del and schizophrenia, CNVs in families w/ psych disorders, pharmacogenetic considerations for tx.
Cardiomyopathy decrease in cardiac output; heart failure and arrhythmia; dilated vs hypertrophic
Cardiomyopathy mutations in contractile apparatus proteins; all modes of inheritance genetic and nongen causes infectious, storage disorders (hemochromatosis)
Cardiomyopathy treatment: ACE inhibitors, beta blockers
Long QT syncope, cardiac arrest, assoc w/ increase in sympathetic activity
Long QT treatment: beta-blockers, pacemakers, sympathetic ganlionectomy
Long QT Romano Ward (AD) - KVLQT1 (AR -JLNS w/ hl) Other genes: HERG (K channel), SCN5A (Na channel), minK (K channel), MiRP1 (K channel)
Hereditary Hemorrhagic Telangiectasia Cutaneous and visceral AV malformations; Epistaxis; GI bleeding; Pulmonary AVM- stroke and brain abscess
Hereditary Hemorrhagic Telangiectasia AD genes: ENG, ACVRL1, SMAD4
Proteus syndrome Progressive segmental overgrowth (skeleton, skin, adipose tissue, CNS)
Proteus syndrome AKT1 mosaic mutations in 90%; c.49G>A (Glu17Lys); sporadic
Methyltransferase addition of CH3 (methyl grp) to cytosine to give 5-methylcytosine
Methylation marks erased in germ cells
Rett syndrome developmental regression; szs; loss of motor coordination; stereotypies
Rett syndrome XLD; MeCP2 loss of function mutations (methyl CpG binding protein 2)
PWS paternal deletion 70%; maternal UDP 25-30%; imprinting defect 1%
AS maternal deletion 68%; paternal UDP 7%; Imprinting defect 3%; UBE3 mutation 11%
Beckwith-Wiedemann syndrome macrosomia, macroglossia, omphalocele, hemihyperplasia, dysmorphism, risk of tumors (hepatoblastoma, Wilm's tumor)
Beckwith-Wiedmann syndrome 85% sporadic, some AD, 1:13,000 births
Beckwith-Wiedmann loci (normal) IC1: IGF2 (paternal on), H19 (maternal on); IC2: CDKN1C (maternal on), KCNQ1 (maternal on), OT1 (paternal on)
Beckwith-Wiedmann syndrome (abnormal IC1 locus) gain of methyl or microdel of maternal loci = (IG2 mat and pat on/ H19 mat and pat off); 5% of pts, 25% dev tumors, del assoc/ w 50% recurrence risk
Beckwith-Wiedmann syndrome (abnormal IC2 locus) loss of methylation (OT1 on in mat and pat, CDKN1C and KCNQ1 off in both mat and pat) - seen in monozyg twins and ART, 5% risk of tumor, usually sporadic
Beckwith-Wiedmann syndrome (abnormal IC2 locus) CDKN1C mutation in mat allele (10% of patients, AD, low risk of tumors)
Beckwith-Wiedmann syndrome (UPD) Paternal 20% of cases, somatic mosaicism, hemihypertrophy, >25% risk of tumors
Beckwith-Wiedmann syndrome (paternal 11p duplication) 1% of cases inc IGF2 and OT1 expression
Russell-Silver syndrome low birth weight; relative macrocephaly, FTT in infancy, delayed growth and bone age, skeletal asymmetry, urogenital anomalies, some with DD
Russell-Silver syndrome usually sporadic; <5% maternal UPD7; 11p imprinting disorder; same locus as BWS
Russell-Silver syndrome maternal UPD (rare) maternal duplication (1-2% cases)
Russell-Silver syndrome hypomethylation of IC1 (no IG2 pat expression) 45% hypomethylation of OT1 in maternal (no CDKN1C and KCNQ1 expression) (4% cases)
Albright hereditary osteodystrophy intellectual disability, subcutaneous calcification; paternal transmission of GsAlpha mutation (GNAS gene)
Pseudohypoparathyroidism-1a AHO and resistance to multiple hormones; maternal transmission of GsAlpha mutation (GNAS gene)
Pseudohypoparathyroidism-1b renal parathyroid resistance; loss of maternal methylation at exon 1A (GNAS gene)
Transient Neonatal Diabetes IUGR, severe neonatal diabetes that regresses around 12 wks, may relapse at times of stress
Transient Neonatal Diabetes TNDM1 locus on 6q24: PLAGL1 and HYMA1; Paternally expressed, maternal methylated: UPD(6)pat 40%, Dup(6q24)pat 32%, mat hypometh TNDM1 28%
Created by: amrs
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