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Genetics 100 Syndromes > 100 syndromes > Flashcards

100 syndromes Flashcards

1
Q

Allagile syndrome genes

A

Jak 2, NOTCH 1

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2
Q

Allagile syndrome liver issue?

A

cholestasis, requires transplant

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3
Q

Brugada syndrome gene? function? in 15-30% of cases

A

SCN5A - 15-30%, NA channel protein

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4
Q

Brugada syndrome inheritance?

A

AD except KCNE5 -XLR– K channel

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5
Q

Brugada who gets more men or women?

A

men >women 9:1

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6
Q

EKG in Brugada? how common is there EKG abn?

A

polymorpgic VT v fib, but only 30% have abn

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7
Q

death in Brugada?

A

Asain nocturnal death, sudden dealth by age 40, death during febrile illness

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8
Q

Brugada treatment cardiac>

A

pacer

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9
Q

15 yr old male, short, hypertrophic cardiomyopathy, coarse facial features,

A

RASoptahies cardiofaciocutaneous syndromes, costello, noonan, noonan with multiple lentigines

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10
Q

cardio facio cutaneous syndrome gene in 75%?

A

BRAF in 75%

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11
Q

cardio facio cutaneous disease mechanism

A

gain of function map K

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12
Q

cardio facio cutaenoius cardiac abn?

A

pulm stenosis, septal defects, hypertrophic cardiomyopathy

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13
Q

cardio facio cutaenoius skin?

A

xerosis, palmpplantar hyperkeeratosis, ichythosis, skin lesions on the eye brows

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14
Q

cardio facio cutaenoius face ?

A

macrocephaly, downsplanting fissures, ptosis, cupid’s bow of upper lip, high arches palate, curly sparse hair

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15
Q

cardio facio cutaenoius skeletal/ ocular

A

short neck, pectus deformities, scoliosis, pes planus, ocular= strabismus, nystagmus, optic nerve hyperplasia

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16
Q

cardio facio cutaenoius cancer?

A

blood cancers and testes from crytoprchdiism

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17
Q

Costello Syndrome most common gene?

A

HRAS- gain of function 11p15.5 inheritance de novo- missese

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18
Q

What is different about costello compared to other RASopathies?

A

HRAS is only a part of costello
papilloma around the mouth
deep palmar creases/ perianal region

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19
Q

deep palmar creases give 2 conditions?

A

trisomy 18 mosacism, costello

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20
Q

costello syndrome cardiac?

A

same as cfc- PULhtn hypertrophic cardiomyopathy

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21
Q

61 year old with hx of nose bleeding and hemorhaggic stroke, vascular lesions on the face- pinpoints:

A

herditary hemorhaggic telangectasia

22
Q

HHT- 4 genes?

A

ACVRL1 ENG, SMAD4

23
Q

smad4 is also involved in

A

juvelile polyposis syndrome, and HHT

24
Q

genetic mechanism in HHT?

A

haplo-insufficiency

25
Q

HHT vascular findings?

A

AVM, telangectasias,

26
Q

Diagbnosing HHT?

A

need 3/4: 1. nosebleeds spontaneous recurrent,2. mucocutaneous telangectasias, visceral AVM- lings, brain liver, 4. FH

27
Q

which gene is most common for HHT?

A

ENG

28
Q

management for HHT?

A

stool culture for blood, cbc for polycythemia, contrast echo to find pulm AVM- bubble study, hear MRI for cerebral AVM, US for hepatic AVM

29
Q

what is the most important screening test to order for HHT?

A

echo for pulm AVM, if its > 3.0mm, call have balloon placed

30
Q

9 year old boy with hand anomalies, CHD, absent radius and thumb

A

HOLT orom

31
Q

holt orom gene location?

A

TBX5, SALL4 , t box transcription factor, TBX5- AD 85% de novo

32
Q

What is TBX5 and what condtion?

A

transcription factor with cardiogenesis and limb development

33
Q

which agent taken orally can result in the same physical features of holt orom?

A

thalidomide

34
Q

100% of patients with holt orom have?

A

100% have carpal bone abnormalities,

35
Q

most common cardiac findings in holt orom? What percent of patients with holt orom have CHD?

A

ASD, VSD, arrhythmia, 75% of ppl have CHD

36
Q

Kabuki syndrome genes?

A

KMT2D 66% AD,,,KDM6A- x. LINKED- encodes proteins involved in methylation, lysine specific deemthylase 6a

37
Q

how to dx kabuki?

A

gene sequencing for the 2 genes, del dup, or can consider methylation study

38
Q

hands in kabuki?

A

brachydactyly, clinodactyly of fifth digits, persistant fetal finger pads

39
Q

ears eyes and mouth in kabukio?

A

ptosis, ear pits, cleft lip

40
Q

kabuki immunity?

A

hypogammaglobulinemia and IGA deficiency , autoimmune conditisns like vitiligo, immune thrombocytopenia, hemolytic anemia

41
Q

young children with autoimmune and developmental delay should make you think of?

A

kabuki

42
Q

ears in kabuki?

A

large prominant or cupped ears

43
Q

what medication can be given in kabuki?

A

GH

44
Q

holoprosencephaly and feet abn? 2-3 toe syndactyly

A

smith lelmi opitz

45
Q

gene in smith lelmi opitz

A

DHCR7- A recessive, protein is 7-DHC, reductase- in ch 11

46
Q

diagnsosis in SMLO

A

elevated 7 dehydrocholesterol and 8-dehydrocholesterol, or gene sequencing for DHCR7 or del dup

47
Q

can you use cholesterol level in smlo since there is a problem with cholesterol?

A

no can be normal

48
Q

pregnant women with SMOL will have?

A

low estriol during pregnancy since cholesterol is abn

49
Q

what percent of SMOL have 2-3 syndactyly?

A

99%

50
Q

SMOL nose?

A

short nose and anteverted nares

51
Q

proteins in Allagele

A

jagged 1 neurogenic locus notch homolog protein 2- jag1 is truncated protein product rendering in unable to bind to the cell membrae resultin in haploinusfficency

Genetics 100 Syndromes (1 decks)

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