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sys_relI
System Related Disorder I
| Term | Definition |
|---|---|
| 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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