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M2M U2 Diseases > Diseases > Flashcards

Diseases Flashcards

1
Q

Kleinfelter Syndrome

A 
47, XXY
Phenotypes: learning disability
delayed speech
reduced body hair
INFERTILITY
hypospadias
gynecomasiatia
"female" body type
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2
Q

Jacobs Syndrome

A 
47, XYY
Phenotypes:
learning disability
speech delay
developmental and behavioral delays
Autism spectrum
affects males
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3
Q

Triple X Syndrome

A 
47, XXX
Phenotypes:
learning disabilities
delayed speech and motor
seizures
kidney issues
affects females
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4
Q

Turner Syndrome

A

45, X0
Phenotypes:
-Cardiac: coarctation of aorta, bicuspid aortic valve
-Eyes: epicanthal folds, blue sclera
-Ear, Nose, Mouth: low set ears, micronathia
-Neck: web neck, cystic hydroma
-Chest: pectus excavatum, widely spaced nipples
Skeleton: cubitus valgus, short stature, short 4th MCP
Learning: difficulty in math, poor spacial and verbal skills
Other: INFERTILITY, urinary, vision and hearing, hypothyroidism, gonadal dysgenesis (results in PRIMARY AMENOHHREA)

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5
Q

PKU

Phenylketonuria

A
  • Defect in PAH liver enzyme (Phe –> Tyr)
  • Unable to break down phenylalanine
  • Affects CNS development
  • Phenotypes: hyperactivity, seizures, microcephaly, mental impairment
  • Treatment: low-phenylalanine diet, BH4 supplement (for those with defect in BH4 cofactor)
  • Test in neonates
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6
Q

PKU Maternal Effect

A

PKU women have increased risk of congenital malformation and mental impairment in offspring - regardless of child’s genotype

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7
Q

ATD

alpha 1-antitrypsin deficiency

A
  • Results in decreased elastin
  • alpha 1-antitrypsin inhibits action of elastase
  • Elastase breaks down elastin
  • ATD results in lack of elastase inhibition –> degradation of elastin in lungs –> alveolar wall damage –> emphysema
  • More common in N. Europeans
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8
Q

ATD Alleles

A

1) Z allele: results in low alpha 1-antitrypsin = cause for majority of ATD
- misfolded protein also accumulates in liver = liver damage and failure

2) S allele:
- S/S genotype has 50% mL activity
- usually don’t express phenotype

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9
Q

Tay-Sach Disease

A
  • Fatal genetic disorder in kids
  • More prevalent in Ashkenazie Jews
  • Lysosomal Storage Disorder
  • Mut in HEXA gene –> defective Alpha Hex A Enzyme subunity –> defect in HexA enzyme
  • Phenotypes: neuro deteriation (3-6mo), die age 2-4, muscle weakness, seizures, vegetative state, mental impairment
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10
Q

Sandhoff Disease

A
  • Mut in HEXB gene –> defective beta Hex A subunit

- Results in defect in HexA and HexB enzyme activity

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11
Q

AB Variant TS

A
  • Defect in GM2 activator protein
  • HexA and HexB enzymes nml
  • GM2 accumulates
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12
Q

Gaucher Disease

A
  • Lysosomal Storage Disease
  • Autosomal Recessive
  • Type 1: non-neuropathic, poor growth and development, bone disease
  • Type 2: severe neuropathic, lethal age 2
  • Type 3: later onset, mildly neuropathic, visceral complications
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13
Q

Trisomy 21 General Info

A
  • Due to unbalanced translocation between Chr 21 and another ACROCENTRIC chromosome
  • Due to error in nondisjunction
  • Increased risk w/ maternal age
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14
Q

Trisomy 21 Phenotypes

A
  • midfacial hypoplasia: small face
  • mild hypotonia
  • upslanting palpebral fissures
  • small ears
  • large appearing tongue
  • clinodactyly (incurving 5th finger)
  • Transverse palmar crease
  • Increased space between 1st + 2nd toes
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15
Q

Medical Problems Associated

with Trisomy 21

A
  • Cardiac: in approx 50% DS pts, atrioventricular canal
  • GI: esophageal atresia, hirschsprung’s, feeding problems, constipation, GERD, celiac
  • Developmental: delayed gross motor development (from hypotonia), spectrum of intellectual disability, speech problems
  • Early onset Alzheimer’s Disease
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16
Q

Prader-Willi Syndrome (PWS)

A
  • Missing PATERNAL Chr 15q11-13
  • maternal allele is silenced like nml
  • Causes: deletion of paternal 15q, Uniparental Disomy (have 2 copies of maternal 15q), imprinting issue (body thinks have 2 copies of maternal allele)
17
Q

PWS Phenotypes

A
  • Severe Hypotonia
  • cryptorchidism (undescended testicles)
  • Dysmorphic features
  • Almond shaped eyes
  • Lighter pigmentation than relatives
  • Obese: from feeding issues
18
Q

Medical Issues with PWS

A
  • Eyes: stabismus (lazy eye), nystagmus
  • Ortho: scoliosis
  • Respiratory: obstructive sleep apnea (from obesity) (contraindication for placing pt on growth hormones)
  • Motor: delays in motor development due to severe hypotonia
  • Developmental: mild to moderate cognitive disabilities
  • Behavioral: violent and aggressive
19
Q

Testing for PWS

A
  • Methylation testing
  • FISH: only if PWS is due to deletion of paternal allele
  • Microarry
20
Q

IDIC 15

A
  • Inverted Duplicated Isodicentric 15q
  • Anomaly of maternal 15q (same region as PWS)
  • Due to recombination in which new char has both centromeres and acrocentric ends
  • Phenotypes: autism, seizures, NOT dysmophic, hypotonia
21
Q

Interstitial 15q Duplication

A
  • Can result in dup or partial Trisomy
  • If maternally derived: show phenotype
  • If paternally derived: no phenotype
  • Phenotype: similar to IDIC 15 (autism, sz, hypotonia, Not dysmorphic)
22
Q

Angelman Syndrome

A

-Deletion of maternal 15q11-3 allele

Phenotype: mild facial dysmorphia, mild hypotonia (less than PWS), severe intellectual disability, seizures, Autism

23
Q

Ways to Develop AS

A
  • -Deletion of Maternal allele
  • Paternal Uniparental Disomy
  • Imprinting Defect: think have 2 paternal
  • Specific Mutation: similar to del (UBE3A)
24
Q

Testing for AS

A
  • Microarray: detects classic deletion of maternal allele
  • Methylation: detects paternal uniparental disomy and imprinting errors
  • FISH?
25
Q

Achondroplasia

A
  • 100% penetrant!!
  • Autosomal Dominant
  • Mut in FGFR3 (regulates bone growth)
  • Chr 4p
  • Missense mut (aa substitution)
  • Mut increases activity of FGFR3 so less bone production
  • Paternal Age Effect
26
Q

Phenotypes of Achondroplasia

A
  • Small stature
  • Proximal limb shortening
  • short fingers
  • Genu varum (bow legged)
  • Trident hands
  • Large head/frontal bossing
  • Midfacial retrusion
  • Small foramen magnum
27
Q

Neurofibromatosis Type 1

A
  • Autosomal Dominant
  • Variable Expressivity
  • Loss of Function mutation of NF1 (Neurofibromin Tumor suppressor Gene)
  • On Chr 17q
  • Phenotypes: cafe-au-lait spots, neurofibromas, plexiform neurofibromas, lisch nodules (eye freckles)
28
Q

Tuberous Sclerosis

A
  • Autosomal Dominant
  • Variable Expressivity
  • 1/3 inherited, 2/3 de novo
  • 100% penetrant
  • Locus heterogeneity
  • Loss of Function Mutation
  • Mut in TSC1 + 2 on Chr 9 + 16
  • Regulates cell growth and development
  • Phenotypes: lots
29
Q

Osteogenesis Imperfecta Type 1

A
  • AD
  • Variable Expressivity
  • Mut in COL1A1 on Chr 7
  • Reduces collagen production (by 1/2)
  • loss of function mutation
  • Phenotypes: multiple fx, Blue Sclera, mild short stature, adult onset hearing loss
30
Q

Marfan Syndrome

A
  • AD
  • Variable Expressivity
  • Systemic connective tissue disorder
  • Mut in FBN1 on Chr 15q
  • Fribrilin misfolding (protein) - weakened extracellular matrix - decreased systemic structural integrity
  • Phenotypes: aortic root enlargement, wrist and thumb sign, precuts excavatum
31
Q

Huntington Disease

A
  • AD
  • Trinucleotide Repeate Disorder - CAG
  • Anticipation
  • Mut in HTT gene on Chr 4p
  • Phenotype: progressive neurological degeneration, motor, cognitive, and psych disturbances
  • 100% penetrant over certain # of trinucleotide repeats (>40)
32
Q

Fragile X Syndrome

A

X-linked

  • FMR1 gene mutation leads to hypermethylated FMR protein promoter
  • TNR disorder - CGG
  • Anticipation
  • Maternal Transmission Bias: unstable when female w/ expansion has offspring, but not males
  • Phenotype: intellectual disabilities, dysmorphic features, aggression, social anxiety, hand flapping/biting
33
Q

Duchenne Muscular Dystrophy (DMD)

A

X-linked recessive

  • Mut in DMD on Xp
  • Large deletions
  • nonsense (stop), framshift, deletions - cause truncated protein + loss of function
  • Causes absence of dystrophin
  • Males only
  • Phenotype: proximal to distal progressive muscular weakness, calf hypertrophy, cardiomyopathy
  • Onset prior age 5
  • Wheelchair prior age 13
  • Death in 30s
  • Screening test: lying to standing
34
Q

Hemophilia A

A

X-linked recessive
-Decreased blood clotting from deficiency in Factor 8
-Mut in F8 gene on Chr Xq
-Majority from 22A inversion
Phenotype: spontaneous bleeding, prolonged bleeding, delayed wound healing, excessive bruising
-Royal family

35
Q

Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)

A
  • Loss of function mutation
  • AD
  • Deletion of PMP22 gene
36
Q

Nonsyndromic Deafness

A
  • does not involve other systems
  • Typically AR
  • Mut in GJB2 gene - most common
37
Q

Syndromic Deafness

A
  • Includes other systems (than just ears)

- Intellectual disability, seizures, dysmorphic syndromes

38
Q

Trisomy 18

A
  • Edwards Syndrome
  • Small gestational age, small head, clenched fingers, rocker-bottom feet, heart/brain abnormalities
  • Tolerated aneuploidy - viable birth
39
Q

Trisomy 13

A
  • Patau Syndrome
  • Characteristic faces, severe intellectual disabilities, congenital malformations, polydactyly, facial clefts, renal issues

M2M U2 Diseases (1 decks)

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