Symptoms Flashcards
1
Q
Disease common in Ash jews
A
Tay Sachs
Nieman Pick Types A and B
2
Q
germ cells of old fathers
A
new ADDs
3
Q
consanguineous marriage increases risk of
A
ARDs
4
Q
infertile male
A
Y-linked disease
5
Q
defect on OPN1LW and OPN1LMW genes on x chromo
A
color blindness
6
Q
defect in extracellular glycoprotein fibrillin-1
A
MFS
7
Q
defect in extracellular glycoprotein fibrillin-2
A
contractural arachnodactyly
8
Q
Tall, thin, long extremities/digits (arachnodactally
A
MFS*
9
Q
Short torso
A
MFS*
10
Q
Joints in hand/feet are very lax (dbl jointed) (hyperextendable)
A
MFS, EDS (contortionists EDS), fragile X synd (esp the thumb)
11
Q
Dolichocephalic (long headed)
A
MFS
12
Q
Bossing of the frontal eminences
A
MFS
13
Q
Pectus excavatum or pectus carinatum
A
MFS
14
Q
Spine: kyphosis, scoliosis, rotated/slipped dorsal/lumbar vertebrae.
A
MFS
15
Q
Prominent supraorbital ridges.
A
MFS*
16
Q
ectopia lentis
A
MFS*
17
Q
mitral regurgitation
A
MFS (from Mitral valve prolapse (lesions) from loss of connective tissue makes the valves soft and billowy AND lengthening of the chordae tendineae )
18
Q
cystic medionecrosis
A
MFS* (not see elastin on slide – reason for sudden death bc aortic incompetence)
19
Q
vit c deficiency
A
causes EDS
20
Q
deficiency in lysyl hydroxylase
A
causes kyphoscoliosis type EDS
21
Q
Skin hyperflexible, extrememly fragile, and vulnerable to trauma
A
EDS
22
Q
ocular fragility w rupture of cornea and retinal detachment
A
Kyphoscoliosis type of EDS
23
Q
Mutations in COL3A1 gene.
A
Vascular type of EDS:
=>abnormal type 3 collagen via:
•defects in the rate of synth for pro-α1 chains
•defects in the secretion of type III procollagen
•just structurall abnormal collagen type 3
24
Q
rupture of colon
A
Vascular type of EDS
25
rupture of lg a's in vulnerable organs (skin, ligaments, joints)
Vascular type of EDS
26
Mutations in 1 of the 2 T1 collagen genes: COL1A1 and COL1A2
Arthrochalasia type of EDS: structurally abnormal pro-a1(T1) or pro –a2 (T1) chains that resist cleavage of N-ternimal peptides
27
mutations in the procollagen-N-peptidase gene that codes for the enzyme that cleaves the collagen protein.
Dermatosparaxis type of EDS
28
Mutations in the genes for type V collagen (COL5A1 and COL5A2
Classic type of EDS
29
Mutations in the genes for tenascin-X
Classic type of EDS bc affect fibril formation in type I and VI collagen
30
diaphragmatic hernia
Classic type of EDS
31
atherosclerosis and increased risk of MI from..
FH
32
xanthomas
FH: in ligaments and tendons (and peritoneum and fascia)
33
thrombotic issue
FH (d/t atherosclerosis in <3)
34
complete occlusion in coronary a's
FH (d/t atherosclerosis in <3)
35
complete failure of the synthesis of the LDL receptor protein
Class I FH
36
improper folding that causes LDL receptor to collect in the ER since they can’t be transported into the golgi.
Class II FH
37
LDL receptor cannot bind to the LDL even though they are inserted into the membrane.
Class III FH
38
problems internalizing the LDL into coated pits even though the receptors are made properly and bind correctly.
Class IV FH
39
affect the pH-dependent dissociation of the receptor and the bound LDL fails to separate and they are not recycled to the cell surface and are instead degraded in the lysosome.
Class V FH
40
hexosaminidase α-subunit deficiency on chromo 15
Tay- Sachs dis: inability to catabolize GM2 gangliosides
41
mutations that lead to UPR and therefore apop
Tay- Sachs dis
42
probs w C/ANS
Tay- Sachs dis: d/t accumulation of GM2 gangliosides
43
probs w retina
Tay- Sachs dis: d/t accumulation of GM2 gangliosides
44
Neurons dilated with cytoplasmic vacuoles
Tay- Sachs dis: represent distended lysosomes filled with gangliosides. (buut not 100% indicate TS)
45
cytoplasmic inclusions
Tay- Sachs dis: whorled configurations in lysosomes that are partially digested layers of membranes (buut not 100% indicate TS)
46
cherry red spot in macula
Tay- Sachs dis*: Ganglion cells in the retina also fill with GM2 ganglioside (but only seen in .5-.3 neimann pick type A)
47
Motor and mental deterioration with incoordination
Tay-Sachs (in general)
48
flaccidity
Tay-Sachs (in general)
49
blindness
Tay-Sachs: infantile form
50
dementia
Tay-Sachs (in general)
51
loss control of mental and physical abilities
Tay-Sachs: infantile form
52
deafness
Tay-Sachs: infantile form
53
unable to swallow
Tay-Sachs: infantile form
54
speech disorders
Tay-Sachs: juvenille and adultform
55
difficulty swallowing
Tay-Sachs: juvenille and adult form
56
loss cognitive thinking
Tay-Sachs: Juvinille form (also loss motor fcting) adult form (no loss motor)
57
Diseases that present w mental probs
- Infantile Tay-Sachs: loss control mental abilities
- Niemann-Pick Type A: severe mental probs
- Niemann-Pick Type c: progressive neurological damage
- Gaucher dis type 2: progressive CNS involvement
- MPS, Cri du chat synd, Tirsomy 12, 18, 13, fragile x synd, prader willi synd, angelman synd: mental retardation
- Klinefelter synd: low IQ (but no mental retard)
58
severe mental probs
Neimann-Pick Type A
59
visceral accumulation sphingomyelin
Neimann-Pick Type A
60
progressive wasting
Neimann-Pick Type A
61
organomegaly
Neimann-Pick Type B (hepatosplenomegaly: NPA and Gaucher dis type 1, 2 and MPS)
62
zebra bodies
Neimann-Pick Type A: small vacuoles w a foam-like appearance = engorged secondary lysosomes that contain concentric lamellated myelin figures
-also present in MPS (but less)
63
lymphadenopathy: enlarged/numerous/abn consistency LNs
Neimann-Pick Type A and Gaucher dis type 1, 2
64
gyri are shrunken and the sulci widened.
Neimann-Pick Type A
65
vacuolation and dilation of the neurons that leads to cell death and loss brain substance
Neimann-Pick Type A
66
Progressive failure to thrive
Neimann-Pick Type A, Von Gierke Dis (hepatic form GSD)
67
vomiting
Neimann-Pick Type A
68
fever
Neimann-Pick Type A
69
deterioration of psychomotor functions
Neimann-Pick Type A
70
mutations to NPC1 or NPC2
Niemann-Pick Type C
71
hydrops fetalis
Niemann-Pick Type C: accumulation in 2+ compartments
72
stillbirth
Niemann-Pick Type C
73
neonatal hepatitis
Niemann-Pick Type C
74
progressive neurological damage
Niemann-Pick Type C: childhood ataxia, vertical supranuclear gaze palsy, dystonia, dysarthria, and psychomotor regression
75
childhood ataxia
Niemann-Pick Type C
76
vertical supranuclear gaze palsy
Niemann-Pick Type C
77
dystonia
Niemann-Pick Type C
78
dysarthria
Niemann-Pick Type C
79
psychomotor regression
Niemann-Pick Type C
80
mutation in glucocerebrosidase gene
Gaucher dis: cannot cleave glucose from ceramide
81
Accumulation of glucocerebrosides in Mfs and monocytes throughout body, but not in the brain
Gaucher dis Type 1
82
mostly effects the spleen and skeletal sys
Gaucher dis Type 1 and 3
83
dis of European Jews
Gaucher dis Type 1
84
reduced glucocerebrosidase activity
Gaucher dis Type 1
85
almost no glucocerebrosidase activity
Gaucher dis Type 2
86
progressive CNS involvement
Gaucher dis Type 2 (and also type 3, but start adolescence there)
87
distended phagocytic cells that have fibrillary cytoplasm
Gaucher dis: gaucher cells: in spleen, liver, mone marrow, LNs, tonsils, thymus, Peyers patches, alveolar septa, and air spaces in the lungs.
88
bone fractures
Gaucher dis Type 1: from the accumulation of gaughers cells --> effects of cytokines
89
pancytopenia and thrombocytopenia
Gaucher dis Type 1: reduced RBCs, WBCs, and platelets d/t hypersplemism
90
convulsions
Gaucher dis Type 2, Von Gierke Dis (hepatic form GSD - d/t hypoglycemia)
91
from deficiencies of enzymes that are involved in the degradation of mucopolysaccharides
MPS
92
accumulation of ECM components
MPS: specifically, dermatan sulfate, heparan sulfate, keratin sulfate, chondroitin sulfate
93
course fascial features
MPS (esp hurler_
94
clouding of the cornea
MPS (except not in hunter synd)
95
joint stiffness
MPS
96
mental retardation
MPS
97
increased urinary excretion of the accumulated mucopolysaccharides
MPS
98
accumulations of the substance found in in Mfs/monocytes, endothelial cells, intimal smooth muscle cells, and fibroblasts.
MPS: mucopolysaccharides
99
skeletal deformities
MPS (esp hurler)
100
valvular lesions
MPS
101
subendothelial arterial deposits
MPS: (in coronary a’s → important causes myocardial ischemia and infarction and then death).
102
balloon cells
- MPS: numerous minute vacuoles (lysosmes) that contain mucopolysaccharides and stain w/periodic acid-Schiff.
- Pompe Dis (T2GSD): w glycogen
103
deficiency of α-L-iduronidase
Hurler syndrome (MPS I-H)
104
grth retardation
Hurler syndrome, Von Gierke Dis (hepatic form GSD)
105
deficiency of L-iduroulfate sulfatase
Hunter synd
106
deficiencies of glucose-6-phosphatase, liver phosphorylase or debranching enzyme.
Von Gierke dz (type I glycogenosis)
107
hepatic enlargement
- Von Gierke Dis (hepatic form GSD)*: intracytoplasmic accumulations glycogen & small amt of lipid
- mild in Pompe dis (T2GSD)
108
hypoclycemia
Von Gierke Dis (hepatic form GSD)*
109
renomegaly
Von Gierke Dis (hepatic form GSD): : intracytoplasmic accumulations of glycogen in cortical tubular epithelial cells
110
gout
Von Gierke Dis (hepatic form GSD)
111
skin xanthomas
Von Gierke Dis (hepatic form GSD)
112
bleeding tendency
Von Gierke Dis (hepatic form GSD): d/t platelet dysf
113
accumulation of glycogen in sarcolemma
Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD
114
m weakness
Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD
115
defect in muscle phosphorylase
McArdle Dz (type V GSD)
116
defect in phosphofructokinase
Type VII GSD
117
m cramps after exercise
Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD
118
Serum creatine kinase always elevated
Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD
119
lactate levels in veins fail to rise after exercise d/t a block in glycolysis
Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD
120
Myoglobinuria
Myopathic form GSD :McArdle Dz (type V GSD), Type VII GSD
121
myocardial cells full of glycogen
Pompe dis (T2 GSD)
122
deficiency of α-glucosidase (acid maltase, a lysosomal enz).
Pompe dis (T2 GSD)
123
cardiomegaly w hypotonia, fail in 2 yrs
Pompe dis (T2 GSD)
124
Deletion of the short arm chromo5 (5p is usu paternal)
Cri du chat synd
125
high-pitched mewing cry
Cri du chat synd (5p deletion)*: Heard in neonatal pd, lasts several wks then disappears
126
Hypotonic
Cri du chat synd (5p deletion)
127
Low birth wt
Cri du chat synd (5p deletion)
128
Microcephaly
Cri du chat synd (5p deletion)
129
Round face w wide set eyes
Cri du chat synd (5p deletion)
130
Downward slanting palpebral fissures (w or wo eptcanthal folds)
Cri du chat synd (5p deletion)
131
Strabismus
Cri du chat synd (5p deletion)
132
Broad-based nose
Cri du chat synd (5p deletion)
133
```
Ears:
• Low-set
• Abn shaped
• Narrow exernal aud canals
• Preauricular tags
```
Cri du chat synd (5p deletion)
134
Syndactaly
Cri du chat synd (5p deletion)
135
Hypertelorism
Cri du chat synd (5p deletion)
136
Cardiac probs
Cri du chat synd (5p deletion)
137
Retarded mental and physical retardation
Cri du chat synd (5p deletion)
138
old mom
- Trisomy 21
| - Klinefelter synd (if from mom)
139
Flat facial profile
-Trisomy 21
140
Oblique palpebral fissures.
-Trisomy 21
141
Epicanthic folds.
-Trisomy 21
142
All Pts develop Alzheimer’s by age 40.
-Trisomy 21
143
Are predisposed to bad infections (particularly in lungs and thyroid autoimmunity) (bc abnormal immune responses)
-Trisomy 21
144
Gap btwn 1st and 2nd toe
-Trisomy 21
145
Increased risk of developing leukemia, w/the most common being acute megakaryoblastic leukemia.
-Trisomy 21
146
Hypotonia
-Trisomy 21, fragile X synd, Pompe dis (T2GSD)
147
Umbilical hernia
-Trisomy 21
148
Gentle, shy manner
-Trisomy 21
149
Congenital heart defects that include:
- the endocardial cushion
- Ostium primumAV valve malformation
- Ventricular septal defects
Trisomy 21 Ventricular septal defects responsible for deaths in infancy and childhood
(<3 defects also in trisomies 18 and 13, and 22q11.2 deletion synd)
150
Abundant neck skin
-Trisomy 21
151
Intestinal stenosis (atresia) of the esophagus or the small intestine.
-Trisomy 21
152
Simian crease
-Trisomy 21
153
Mental retardation. (IQ 25-50)
-Trisomy 21, 18, 13
154
47,XX, +21
-Trisomy 21
155
result from meiotic nondisjunction
- Trisomy 21, 18, 13
| - (usu) Klinefelter
156
Prominent occiput.
Trisomy 18
157
Micrognathia
Trisomy 18
158
Low set ears
Trisomy 18
159
Short neck
Trisomy 18
160
Overlapping fingers
Trisomy 18
161
Renal malformations
Trisomy 18, 13
162
Limited hip abduction
Trisomy 18
163
Rocker-bottom feet.
Trisomy 18, 13
164
Microcephaly
Trisomy 13
165
Cleft lip and palate
Trisomy 13
166
Polydactyly
Trisomy 13
167
Microphthalmia
Trisomy 13 (small or missing eyeballs)
168
47,XX,+18
Trisomy 18
169
47,XX,+13
Trisomy 13
170
Abnormalities of the palate
22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd): d/t Improper migration of neural crest cells into the 3rd and 4th pharyngeal arches.
• Due to problems with TBX1 that influences PAX
171
Increased risk of schizophrenia and bipolar Ds
22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)
172
Hypocalcemia
22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)
173
Variable degrees of T-cell immunodeficiency
22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)
174
Developmental delay
22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)
175
Facial dysmorphism (Low-set ears, wide-set eyes, small jaw, bowing up of upper lip)
22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd)
176
issues w parathyroids and thymus
22q11.2 deletion synd (also DiGeorge and Velocardiofacial synd): d/t Improper migration of neural crest cells into the 3rd and 4th pharyngeal arches.
• Due to problems with TBX1 that influences PAX
177
learning disabilities
Velocardiofacial synd
178
47,XXY
Klinefelter synd
179
Small atrophic testes (and tubes) and small penis.
Klinefelter synd
- This is the only consistent finding
- Thus reduces spermatogenesis and M infertility
180
Increase in length between the soles and the pubic bone = taller person (long legs).
Klinefelter synd
181
FSH and estradiol levels are consistently increased, T levels are decreased.
Klinefelter synd
- The ratio btwn these extrogens and Ts determine amt feminimity
- Leydig cells are prominent (from the crowding of the tubules and elevation of gonadotropin concs)
182
Lack of secondary sex characteristics like deep voice, beard, and male pattern of pubic hair.
Klinefelter synd
183
gynecomastia
Klinefelter synd (swelling of breast tissue in males).
184
IQ a bit lower than average. (but no mental retard)
Klinefelter synd
185
Increased risk of the metabolic syndrome, T2D (and thus insulin resistance), mitral valve prolapse, breast cancer, extragonadal germ cell tumors, autoimmune disorders (SLE), and osteoporosis from hormonal imbalance.
Klinefelter synd
| -mitral valve prolapse also in Fragile X synd
186
45, X
Turner synd
187
edema of the hand and foot due to lymph stasis
Turner synd: d/t lymph stasis
188
webbed neck and looseness of the skin
Turner synd: resulting from swelling of the nape of the neck (d/t distended lymph channels called a cystic hygroma.)
189
CV probs: preductal coarctation of the aorta or bicuspid aortic valve.
Turner synd: The most important cause of mortality.
190
Normal mental status (subtle defects in nonverbal, spatial processing)
Turner synd
191
Short stature
-Turner synd: SHOX gene normally remains active at both X chromos…buut…
• From haploinsufficiency of SHOX gene, which is expressed in the long bones and 2nd pharyngeal arches, during fetal development
• (Also explains why people with extra X chromosomes are tall, since they have extra copies of SHOX)
-also in prader willi synd
192
Hypothyroidism
Turner synd: (bc have Abs that react to thyroid gland)
193
Glucose intolerance, obesity, insulin resistance
Turner synd: The therapy that uses GH usu worsens this insulin resistance
-(obesity also seen in prader willi synd)
194
Low posterior hairline
Turner synd
195
Cubitus valgus
Turner synd
196
Pigmented nevi
Turner synd
197
Streak ovaries
Turner synd: (ovaries that are reduced to atrophic strands, devoid oc ova and follicles)
198
infertility/ amenorrhea
Turners Synd*: is most important cause of primary amenorrhea
199
No sex characteristics at puberty for female (Inadequate breasts (Broad chest with wide nipples), little pubic hair )
Turner synd
200
gonadoblastoma
Turners synd pt w a whole/partial Y chromo
201
presence of ovarian and testicular tissue
Hermaphrodite
202
ovaries + M ext genitalia
F pseudohermaphrodite
203
testicular tissue + F ext genitalia
M pseudohermaphrodite
204
trinuc repeat from oogenesis
fragile X synd
205
trinuc repeat from spermatogenesis
huntingtons dis
206
a mutation at Xq27.3 on FRMI gene that affects protein FMRP
fragile X synd
207
most effect on brain and testes
fragile X synd (bc where FMRP most located)
208
Long face and mandible, large everted ears, high arched palate
fragile X synd
209
Macro-orchidism
fragile X synd*: (lg testes)(90% of pts, most distinguishing factor)
210
Flat feet
fragile X synd
211
Soft skin
fragile X synd
212
premature ovarian failure (b4 age 40)
fragile X tremor/ataxia (if the F has the premutation)
213
neurodegen in 60s
fragile X tremor/ataxia (if the M has the premutation)
214
Intention tremors and cerebellar ataxia that can lead to parkinson’s dz.
fragile X tremor/ataxia
215
effects seen on skm, <3 m, liver, kidneys
mutation on mito genes (LHON)
216
b/l loss central vision
mutation on mito genes (LHON)
217
hypotonia
prader-willi synd
218
hyperpahgia
prader-willi synd
219
small hands/feet: tapering of distal fingers
prader-willi synd
220
hypogonadism
prader willi synd
221
deletion of q12 of paternal chromo 15
prader willi synd
222
ataxic gait
angelman synd
223
seizures
angelman synd
224
inapropriate laughter
angelman synd
225
deletion of q12 of maternal chromo 15
angelman synd
