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Terms in this set (168)

When a family has multiple individuals in a family have pancreatic cancer, is this more likely to be due to a mutation in BRCA1 or BRCA2?
BRCA2
What genes are associated with Noonan syndrome?
PTPN11, SOS1, KRAS
What heart defects can be seen in Noonan syndrome?
Pulmonary valve stenosis and hypertrophic cardiomyopathy
Noonan syndrome follows what inheritance pattern?
AD
What syndrome is associated with dysmorphic facies, short stature, cryptorchidism, renal malformations, scoliosis, lymphedema, hematological disorders?
Noonan syndrome
What genes are associated with HHT?
ACVRL1, ENG, SMAD4
HHT follows what inheritance pattern?
AD
What percentage of Tuberous Sclerosis is de novo?
2/3
What major systems are affected by Tuberous Sclerosis?
Skin, CNS, Renal, Lung, Heart and Eye
Prenatal ultrasound suggestive of Tuberous Sclerosis?
Rhabdomyoma
Skin features of Tuberous Sclerosis?
Facial angiofibroma, shagreen pathc and ungual fibromata
Tuberous sclerosis can have a contiguous gene deletion involving what other disorder?
PKD
Three cancers associated with VHL?
Hemangioblastoma, pheochromocytoma and RCC
What does CHARGE stand for?
Coloboma, Heart anomaly, choanal atresia, mental retardation, genitourinary anomalies and ear anomalies
Cri du Chat is also known as?
5p minus syndrome
What percentage of Cri du Chat cases are de novo deletions?
85
Rubenstein Taybi follows what inheritance pattern?
AD
What syndrome is characterized by microcephaly, beaked nose, broad thumbs and toes, sleep apnea and strabimus
Rubenstein Taybi
Triploidy accounts for what percentages of SABs?
6-10%
Maternal triploidy results in?
Small placenta, severe asymmetrical IUGR, large head
Paternal triploidy results in?
Hydrophic large placenta, moderate IUGR, normal or microcephalic head
Distinguishing feature of Trisomy 13 and 18 on prenatal ultrasound?
holoprosencephaly
What does VACTERL stand for?
Vertebral anomalie, Anal Atresia, Cardiac malformations, Treachoesophageal fistula, Esophageal atresia, renal anomalies, limb anomalies
Hidrotic ectodermal dysplasia follows what inheritance pattern?
AD
Do individuals with hidrotic ectodermal dysplasia have trouble sweating?
No
What condition is associated with malformed, thickened, small nails?
Hidrotic ectodermal dysplasia
What gene is associated with hidrotic ectodermal dysplasia?
GJB6
What gene is associated with hypohidrotic ectodermal dysplasia?
EDA, EDAR, EDARADD
What syndrome is associated with DVT?
factor V leiden thrombophilia
What is not associated with factor V leiden?
MI, stroke and arterial thrombosis
Distal weakness in 1st-3rd decade, hearing loss ad hip dysplasia?
Charcot Marie Tooth
Charcot Marie Tooth follows what inheritance pattern?
AD, AR and XL
Does DMD or BMD have calf hemihypertrophy?
DMD
Big difference between DMD and BMD?
age of onset, preservation of neck flexor muscles
Progression of muscle weakness in DMD/BMD?
Proximal to distal
Progressive limb and gait ataxia <25y?
Friedreich's Ataxia
Ataxia, diabetes mellitus and optic nerve atrophy?
Friedreich's Ataxia
Gene associated with Rett?
MECP2
Developmental regression, acquired microcephaly and hand wringing movements?
Rett syndrome
Syndrome associated with violent laugh attacks?
Rett syndrome
Heart anomaly associated with Rett syndrome?
Long QT
What gene is associated with Krabbe disease?
GALC
What syndrome is associated with infantile hypertonicity but neurological deterioration?
Krabbe
Weakness, vision loss and regression?
Krabbe
Typical onset of progressive weakness in Ataxia-Telagiectasia?
1-4y
ATM follows what inheritance pattern?
AR
What condition has an Amish founder mutation?
Ataxia Telangiectasia
Progressive cerebellar ataxia?
Ataxia Telangiectasia
What should individuals with Ataxia Telangiectasia avoid?
Ionizing radiation
What gene is associated with Sotos?
NSD1
Solos follows what inheritance pattern?
AD
Increased body mass, delayed motor/cognitive/verbal/social --phobias, aggression, seizures, chronic constipation common
Sotos
What syndrome is caused mostly by microdeletions in individuals of Japanese ancestry and intragenic mutations in non-Japanese?
Sotos
What gene is associated with Canavan syndrome?
ASPA
Macrocephaly, lack of head control, DD by 3-5mo, severe hypotonia?
Canavan
What syndrome is caused by mutations in the IKBKAP gene?
Familial Dysautonomia
Syndrome characterized by progressive GI dysfunction,recurrent pneumonia, altered pain/temp sensitivity and breath holding behavior?
Familial Dysautonomia
What gene is responsible for juvenile onset Parkinson's disease?
PARK2
Parkinson's disease follows what inheritance pattern?
AD, AR, multifactorial
What syndrome presents with liver disease?
Wilson Disease
What syndrome can be detected by increased urinary copper secretion?
Wilson Disease
What gene is responsible for FMF?
MEFV
What is the first clinical feature of FMF II?
Amyloidosis
Recurrent fever and joint pain?
FMF
Muscular dystrophy primarily characterized my proximal muscle weakness?
Sarcoglycan Limd Girdle Muscular Dystrophy
What gene produces Connexin 26?
GJB2
What two proteins are associated with congenital hearing loss?
Connexin 26 and 30
What gene produced Connexin 30?
GJB6
Cone-rod dystrophy, obesity, postaxial polydactyly, gentiourinary malformations?
Bardet-Biedel
Bardet-Biedel follows what pattern of inheritance?
AR
Alagille follows what inheritance pattern?
AD
What percentage of Alagille cases are de novo?
50-70%
What genes are responsible for Alagille syndrome?
JAG1, Notch2
Peripheral artery disease, cholestasis, butterfly vertebrae, eye abnormalities, development/growth delay?
Alagille
Bilateral SNHL, Long QT?
Jervell and Lange-Nielsen
What syndrome is caused by mutations in KCNQ1 and KCNE1?
Jervell and Lange-Nielsen
Jervell and Lange-Nielsen follows what inheritance pattern?
AR
Bilateral SNHL, temporal bone abnormalities, vestibular abnormalities, goiter?
Pendred
What gene is responsible for Pendred syndrome?
SLC26A4
HL and retinitis pigmentosa?
USHER
What syndrome is associated with seizures, hypotonia, vision/HL, combined with rash, alopecia and/or candidiasis?
Biotinidase deficiency
Biochemical testing for biotinidase defitions involves measuring what?
Normal serum biotinidase enzyme activity
What syndrome is characterized by cranisynostosis, hypo plastic clavicles and dental anomalies?
Cleidocranial Dysplasia
What heart defect is associated with lithium use during pregnancy?
Ebsteins anomaly
What syndrome is associated with post natal growth failure, progressive microcephaly, cutaneous photosensitivity, dental abnormalities, SNHL and cataracts?
Cockanye
What syndrome is associated with ID, microcephaly, short, soft hyperexstensible tapering fingers with narrow/small nails, stimulus induced drop attacks, progressive kyphoscoliosis?
Coffin-Lowry
Coffin-Lowry follows what inheritance pattern?
XL dom
Prevalence of congenital diaphragmatic hernia?
1/3000
Mutations in what gene account for the majority of cornelia de lange syndrome?
NIPBL
Creatine deficiency disorder diagnosis can be determined by measuring what metabolites?
Guanidinoacetate, creatine and creatinine in urine and plasma
Percentage of 22q11.2 deletion syndrome cases that are de novo?
93%
What gene is associated with 21-OHD?
CYP21AR
Fanconi anemia follows what inheritance pattern?
AD and XL
What syndrome is associated with progressive renal insufficiency, progressive bilateral SNHL and anterior lenticonus?
Alport
Alpert follows what inheritance pattern?
AR, AD and XL
What percentage of achondroplasia cases are e novo?
80%
What syndrome is associated with life threatening cut neurovisceral attacks of severe abdominal pain without peritoneal signs?
Acute intermittent porphyria
Acute attack of porphyria and usually associate with increased _______ in urine.
Porphobilinogen
What is the classic triad of Aicardi syndrome?
Agenesis of the corpus callous, chorioretinal lacunae and infantile spasms
What syndrome is associated with 47 XXY karyotype?
Aicardi
What disorder is also known as hemoglobin H?
Alpha Thalassemia
Hemoglobin H is also known as?
Bart's hemoglobin
What does WAGR stand for?
Wilm's tumor, choanal atresia, genital anomalies and mental retardation
RR to sibs with one previous child affected with autism and no other family history?
5-10%
Hig resolution chromosome analysis reveals chromosome aneuploidy in that percentage of individuals with autism spectrum disorders?
5%
1-3% of children ascertained for autism spectrum disorders have what condition?
Fragile X
What syndrome is a hallmark deficiency disorder with which behavioral problems and self-mutilation are common in addition to ID and seizures?
Guaindinoacetate methyltransferase
When should the duarte variant of galactossemia be suspected?
When newborn screen is positive, but little to no phenotype is present
What syndrome is associated with the following triad: dysplastic nails, lacy reticular pigmentation or the upper chest/neck and oral leukoplakia?
Dyskeratosis Congenita
What genes are associated with early onset Alzheimers?
APP, PSEN1, PSEN2
What collagen gene is responsible for vascular type EDS?
COL3A1
What percentage of vascular type EDS cases are de novo?
50%
How many repeats constitute a full expansion of FMR1?
>200 CGGs
What syndrome is associated with pain crises of the exremities, vascular cutaneous lesions, sweating abnormalities, corneal lenticular opacities and proteinuria?
Fabry
Fabry disease follows what inheritance pattern?
XL dom
What syndrome is also known as Hurler syndrome?
Mucopolysaccharidosis type 1
Neonatal diabetes mellitus
Insulin-requiring hyperglycemia within the first month of life
Incidence of Neonatal diabetes mellitus
Estimated incidence of 1 in 400,000 neonates
How many neonates with neonatal diabetes mellitus resolve within 3 months?
half of the neonates, diabetes is transient and resolves at a median age of 3 months, the rest are permanent
Gene associated with transient neonatal diabetes (TND)
PLAG1
What mechanism is the mechanism of expression in cases of transient neonatal diabetes?
hyper methylation
Is the UPD that can cause transient neonatal diabetes inherited from maternal or paternal origins?
paternal
What gene is associated with branchiootorenal spectrum disorders?
EYA1
A 30 year old woman comes in for evaluation because she is experiencing shortness of breath following mild activity, reduced ability to exercise, and wheezing. She has also had some unintentional weight loss, respiratory infections, fatigue, and noticed rapid heartbeat upon standing -- what condition is this consistent with?
Alpha-1-Antitrypsin deficiency
Percent of infants with alpha-1 antitrypsin deficiency develop liver disease?
10
What gene is associated with alpha-1 antitrypsin deficiency?
SERPINA1
Alpha-1 antitrypsin deficiency follows what inheritance pattern?
AD
Limb Girdle follows what inheritance pattern?
AR and AD
Weakness progression in Limb Girdle muscular dystrophy?
Proximal
What syndrome is characterized by progressive muscle wasting and weakness with onset in adulthood -- other features include myotonia, cataracts, and cardiac conduction defects?
Myotonic dystrophy
Myotonic dystrophy follows what inheritance pattern?
AD
Classic PKU is associated with what smell?
Musty, mousy
Tryosenima is associated with what smell?
Rancid butter
Maple syrup urine disease is associated with what odor?
Burnt sugar or maple syrup
Isovaleric acidemia is associated with what smell?
Sweaty feet
Multiple acylCoA dehydrogenation defects are associated with what smell?
Cheese
Multiple carboxylase deficiency is associated with what smell?
Cat urine
Methylmalonic acidemia is associated with what smell?
Acidic smell
Cystinuria is associated with what smell?
Sulfur
Ornithine transcarbamylase deficiency results in the accumulation of what in the blood?
Ammonia
Ornithine transcarbamylase deficiency follows what inheritance pattern?
XL
What genes cause myotonic dystrophy?
DMPK, CNBP
What heart condition is associated with myotonic dystrophy?
Cardiac conduction defects
Hemophilia B follows what inheritance pattern?
XL
Factor VIII deficiency is also known as?
Hemophilia A
What syndrome is associated with absent collarbones, delayed fontanel closure, peg-like teeth, brittle bones, +/-HL, scoliosis and dysmorphic facies?
Cleidocranial dysplasia
Cleidocranial dysplasia follows what inheritance pattern?
AD
What gene is associated with Cleidocranial dysplasia
RUNX2
The following symptoms describe what condition: fatigue, joint pain, abdominal pain, loss of sex drive -- later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration?
Hemachromatosis
What syndrome is characterized by ventricular arrhythmia, which can cause fainting (syncope), seizures, difficulty breathing, or sudden death?
Brugada syndrome
Incidence of Brugada syndrome
1/2000
Brugada syndrome follows what inheritance pattern?
AD
Leopard syndrome is also known by what other name?
Multiple lentigines syndrome
What syndrome is characterized by multiple lentigines, hypertelorism, conduction defects, pulmonary stenosis, abnormalities of the genitalia, short stature, and hearing loss?
Multiple lentigines or leopard syndrome
What condition is characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight and freckling by age 2?
xeroderma pigmentosum
30 percent of people with xeroderma pigmentosum develop what symptoms?
hearing loss, poor coordination, difficulty walking, loss of intellectual function, difficulty swallowing/talking, and seizures
xeroderma pigmentosum follows what inheritance pattern?
AR
What gene is associated with Saethre-Chtotzen?
TWIST1
What type of craniosynostosis is dominant in saethre chosen syndrome?
coronal
What syndrome is associated with bilateral enlargement of the vestibular aqueducts?
Pendred syndrome
Which feature is MOST significant in establishing a diagnosis of Meckel-Gruber syndrome?
cystic renal disease
When UE3 is very low on second trimester screening, what syndrome besides SLO should be considered?
steroid sulfatase deficiency
What does NARP stand for?
Neuropathy, ataxia, and retinitis pigmentosa
NARP follows what inheritance pattern?
mitochondrial
What condition is characterized by abnormal scar-like (fibrous) tissue in their bones, called polyostotic fibrous dysplasia, café-au-lait spots and early onset puberty in females?
McCune-Albright syndrome
Spinocerebellar ataxia follows what inheritance pattern?
AD
FAP is associated with what condition of the eye?
congenital hypertrophy of the retinal pigment epithelium (CHRPE)
What type of craniosynostosis is common in thanatophoric dysplasia?
Cloverleaf skull
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