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MCB Block 4 > Diseases > Flashcards

Diseases Flashcards

1
Q

Achondroplasia

A

Auto Dominant
- 80% Sporadic Mutation

c. 1138G > A
p. G380R mutation

  • Disproportionate Dwarfism
  • Lumbar Lordosis
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2
Q

Thanatophoric Dysplasia

A

Auto Dominant
- Always Sporadic Mutation

  • Micromelic Limb shortening
  • Frontal Bossing
    TD 1
  • Curved Femurs, Possible Cloverleaf Skull
    TD 2
  • Straight Femurs, Cloverleaf Skull
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3
Q

Acute Intermittent Porphyria

A

Auto Dominant; Haploinsufficiency

Porpholobilinogen Deaminase deficiency

  • Wine red urine
  • NO PHOTOSENSITIVITY
  • worsened by hormones, drugs, and diet
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4
Q

Alzheimer’s Disease

A

Auto Dominant

Early Onset:
- APP, PSEN 1 OR 2 defect
Late Onset:
- Multifactorial (ApoE 4)

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5
Q

Androgen Insensitivity Syndrome

A

X-linked Recessive

Mutations in Androgen Receptor Gene

46XY = feminization of male genitalia, female secondary sexual phenotypes, infertility (no ovaries/uterus, but testes may function)

46XX = heterozygous carriers, minimal effect

Note: likely has something to do with SRY

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6
Q

Alpha Thalassemias

A 
# of Genes deleted = form
1 = silent carrier (HbA)
2 = Alpha Thalassemia Trait (HbA w/ minor HbH)
3 = Hemoglobin H disease (HbH aka beta 4; unstable)
4 = Hydrops Fetalis (Hb Barts aka gamma 4)
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7
Q

Beta Thalassemias

A

Heterozygous = Minor form, mostly asymptomatic
“Leaky Mutation”

Homozygous = Major form aka Cooley’s Anemia

  • Null Mutations
  • Hepatosplenomegaly
  • Iron Overload
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8
Q

Congential Adrenal Hyperplasia

A

Auto Recessive

Mutations in 21 Hydroxylase (CYP21A2)
- Gene Conversion results in enzyme deficiency

  • Female Pseudohermaphroditism
  • 46 XX will have genitalia with male characteristics (ambiguous or fully male), but also normal ovarian development
  • 46 XY may have hypospadias
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9
Q

Craniofrontonasal Syndrome

A

X-linked Dominant; Dominant-Negative

Mutations in EFNB1

  • Affects women more than men (hemizygosity is better than heterozygosity)
  • Groove nose, longitudinal nail split, coronal synostosis
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10
Q

DMD

A

X-linked Recessive

Null Mutation resulting in complete lack of dystrophin

  • Progressive symmetrical muscular weakness (proximal more than distal
  • weakened neck flexion against gravity
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11
Q

BMD

A

X-linked Recessive

In-frame deletion resulting in residual dystrophin activity

  • milder presentation and slower progression than DMD
  • High variability
  • Activity-induced cramping
  • neck flexion preserved
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12
Q

Fragile X Syndrome (FRAXA)

A

X-linked Dominant

CGG expansions in 5’ UTR of FMR1 (2nd leading cause of mental retardation after Down’s Syndrome; Loss of Function)

In Males: Delayed developmental milestones, macroorchidism, strabismus, pes planus

In Females: 50% Penetrance (heterozygotes), same physical and behavioral features as males but with lower frequency and milder involvement

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13
Q

Friedrich Ataxia

A

Auto Recessive

GAA expansions in Intron 1 of Frataxin (FXN); due to slippage (Loss of Function)

  • Anticipation
  • Neurodegen
  • Muscle weakness, diabetes
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14
Q

Hemophilia A

A

X-linked Recessive

Defect in Factor 8 (F8 gene)

  • Coagulation disorder
  • Variable severity: more residual function = milder disease, less residual function = more severe disease

Note: Hemophilia B = defect in Factor 9 (F9 Gene)

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15
Q

Huntington’s Disease

A

Auto Dominant

CAG repeats of Huntingtin (Gain of Function; Altered Protein)

  • Anticipation (expansion in paternal germline)
  • Chorea
  • Depression
  • Cognitive Decline
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16
Q

Myotonic Dystrophy

A

Auto Dominant

CTG expansion in 3’ UTR of DMPK gene (Gain of Function; altered RNA)

  • Anticipation (expansion in female germline)
  • Myotonia, muscle wasting, weakness
  • Cataract
  • Hypogonadism
17
Q

Nail Patella Syndrome

A

Auto Dominant

Mutation in LMX1B TF

Pleiotropic

  • Nail Dysplasia
  • Pterygia/Elbow Dysplasia
  • Iliac Horns (Extoses of the Ilia)
  • Absent Patella
18
Q

Osteogenesis Imperfecta

A

Auto Dominant; Dominant Negative

Type I: Mild (Null Mutation)
Type II: Lethal (Missense)
Type III: Severe (Missense)
Affects Col1A1 or Col1A2 of type 1 collagen

19
Q

PKU

A

Auto Recessive

Form of Hyperphenylalaninema
Deficiency of Phenylalanine Hydroxylase

  • Mental Retardation
  • Mousy Odor
  • Hypopigmentation
20
Q

BH4 Deficiency

A

Deficiency of BH4 cofactor (for Phenylalanine Hydroxylase)

  • Mental Retardation
21
Q

Prader Willi Syndrome

A

Neither Recessive nor Dominant

Lack of Paternal contribution of 15q11-13 (SNRPN)

  • Moderate Retardation
  • Polyphagia, Obesity (Type 2 DM
22
Q

Angelman Syndrome

A

Neither Recessive nor Dominant

Lack of Maternal contribution of 15q11-13 (UBE3A)

  • Severe Retardation
  • Seizures
  • Happy Demeanor
  • Coarse Facies
23
Q

Rett Syndrome

A

X-linked Dominant

Mutations in MEPC2 (Encodes Methyl CpG-Binding Protein 2)

  • presents in women more than men.
  • hand wringing
  • mental retardation
24
Q

Sickle Cell Disease

A

Auto Recessive

A -> T mutation in HBB encoding Beta Globin (Glutamic acid -> Valine)

  • Severe Hemolysis
  • Hemolytic Anemia
  • Repeated infections
  • occlusion of capillaries (swelling of hands/feet)
25
Q

SCA

A

Auto Dominant with Anticipation

  • Ataxia (loss of coordination)
  • degeneration of the cerebellum
  • late onset
26
Q

Tay-Sachs

A

Auto Recessive

HEXA mutation

  • whorled lysosomes
  • progressive neural degeneration
  • CHERRY RED SPOT at fovea centralis
  • Ashkenazi Jews, French Canadians, and Cajuns

Note: essentially identical to Sandhoff and Activator Deficiency

27
Q

Williams-Beuren Syndrome

A

Autosomal Dominant

duplication/deletion of 7q11.23

Example of duplication and deletion manifesting opposite effects

  • Duplication: speech delay, but not as retarded
  • Deletion: can speak freely, but nothing they say makes sense because they’re retarded
  • Supravalvular Aortic stenosis

MCB Block 4 (2 decks)

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