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Genetics > Common Diseases to Chromosomal/genetic Defects > Flashcards

Common Diseases to Chromosomal/genetic Defects Flashcards

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1
Q

AML (Acute myeloblastic leukaemia)

A

Chromosome 5: deletion >> poor prognosis

Chromosome 7: deletion >> poor prognosis

t(9: 22): Philadelphia chromosome >> poor prognosis

t(8:21) >> good prognosis

t(15:17) = (PML:RAR-alpha fushion >> APML >> good prognosis

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2
Q

ALL (Acute lymphoblastic leukaemia)

A

Most common: t(12: 21) = (TEL: AML1) >> good prognosis

Chromosome 9p: deletion >> good prognosis

Trisomy 4, 10, 17 >> good prognosis

Hyperdiploidy >> good prognosis

t(9:22) [Philadelphia chromosome] >> poor prognosis

t(4:11) >> poor prognosis

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3
Q

CML (Chronic myeloid leukaemia)

A

t(9:22) = Philadelphia chromosome >> Poor prognosis

(ABL) Abelson proto-oncogene: location 34 of long arm (q) of chromosome 9 >> is translocated to >> BCR (Breakpoint cluster region) gene: location 11 of long arm(q) of chromosome 22

BCR: ABL encodes for tyrosine kinase

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4
Q

CLL (Chronic lymphocytic leukaemia)

A

Chromosome 13 (long arm, q) >> deletion (around 50%)

Chromosome 17 (short arm, p) >> full/part deletion (around 5-10%)

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5
Q

Burkitt’s lymphoma

A

t(8: 14) =

MYC oncogene on chromosome 8 >> is translocated to >> an immunoglobulin (Ig) gene on chromosome 14

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6
Q

Mantle cell lymphoma

A

t (11;14) =

Deregulation of the cyclin D1 (BCL-1) gene

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7
Q

Follicular adenoma

A

t(14; 18) =

Deregulation of BCL-2 gene (anti-apoptotic gene)

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8
Q

Haemophilia A, B

A

‘Flip tip inversion’ in the factor VIII gene in the X chromosome (factor IX gene for type B)

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9
Q

Von Willibrand disease

A

Chromosome 12 >> tip of short arm (p): VWF gene mutation

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10
Q

Hereditary Haemorrhagic Telangiectasia (HHT) type 1

A

Chromosome 9;

Gene: ENG;

Protein: Endoglin

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11
Q

Hereditary Haemorrhagic Telangiectasia (HHT) type 2

A

Chromosome 12;

Gene: ACVRL1/ALK-1;

Protein: ALK-1

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12
Q

Hereditary Haemorrhagic Telangiectasia (HHT) type 3

A

Chromosome 5;

Gene: RASA1

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13
Q

Hereditary Haemorrhagic Telangiectasia (HHT) type 4

A

Chromosome 7

Gene: unknown

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14
Q

Hereditary Haemorrhagic Telangiectasia (HHT) type 5

A

Chromosome 10:

Gene: GDF2

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15
Q

Juvenile Hereditary Haemorrhagic Telangiectasia (JHHT)

A

Chromosome 18;

Gene SMAD4/ MADH4

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16
Q

PRV (polycythaemia rubra vera)

A

In 95% cases, Chromosome 9(p, short arm): JAK2 (V617F) mutation

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17
Q

Essential thrombocythaemia

A

In 50% cases, Chromosome 9(p, short arm): JAK2 (V617F) mutation

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18
Q

Myelofibrosis

A

In 50% cases, Chromosome 9(p, short arm): JAK2 (V617F) mutation

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19
Q

Activated protein C resistance (Factor V leiden disease)

A

Chromosome 1: FVL gene mutation (single point mutation)

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20
Q

Antithrombin III deficiency

A

Chromosome 1 (q, long arm) ; Gene: AT3 gene (AKA SERPINC gene)

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21
Q

Protein C deficiency

A

Chromosome 2 (q. long arm)

Gene: PROC gene mutation

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22
Q

Myeloproliferative HES (Hypereosinophilic syndrome) or Eosinophilic leukaemia

A

FIP1L1-PDFRA genotype

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23
Q

Haemochromatosis

A

Chromosome: 6

Gene: C282Y HFE mutation

Also, H63D

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24
Q

G6PD deficiency

A

Chromosome X

Gene: G6PD

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25
Q

Hereditary spherocytosis

A

For Northern European:

  • Chromosome 1: Gene SPTA1: Encodes: Spectrin- (alpha)
  • Chromosome 8: Gene ANK1: Encodes: Ankyrin

Less common:

  • Actin
  • Protein 4.2 (Japanese)
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26
Q

Sickle cell disease/anaemia

A

Chromosome: 11 (p, short arm) location 6

Gene: HBB >> encodes beta-globin chain

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27
Q

Alpha thalassemia

A

Chromosome 16

Gene: HBA1 & HBA2

So, Each chromosome has 2 gene >> 2 + 2 >> 4 gene in chromosome pair >> encodes alpha-globin chains/alpha subunits

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28
Q

Beta thalassemia

A

Chromosome: 11

Gene: HBB

So, Each chromosome has 1 gene >> 1 + 1 >> 2 genes in chromosome pair >> encodes beta-globin chains/beta subunits

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29
Q

Von Hippel Lindau syndrome

A

Chromosome 3 (short arm, p)

Gene: VHL

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30
Q

Friedreich’s ataxia

A

Chromosome 9

Gene: FXN (X25)

Protein: Frataxin

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31
Q

Tuberous Sclerosis (TS)

A

Chromosome 9; Gene: TSC1

Chromosome 16: Gene: TSC2

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32
Q

Neurofibromatosis

A

Type 1: Chromosome 17: Gene: NF1

Type 2: Chromosome 22: Gene: NF2

(Recall, Neurofibromatosis has 17 characters, so NF1 has 17 no chromosome; NF2 has all 2)

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33
Q

Ataxia telangiectasia

A

Chromosome 11

Gene: ATM gene

Encodes for: DNA repair enzymes

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34
Q

Alzheimer’s disease

A

Only 5% is inherited as autosomal dominant

Chromosome 1: Gene: PSEN2; encodes: Presenilin 2

Chromosome 14; Gene: PSEN1; encodes: Presenilin 1

Chromosome 17: Gene: MAPT; encodes tau protein

Chromosome 19; Gene: APOE e4 (Apoprotein allele e4); encodes cholesterol transport protein

Chromosome 21: Gene: APP: encodes: Amyloid precursor protein

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35
Q

Huntington’s disease

A

Chromosome 4

Gene: HTT (Huntingtin) (= IT15: Interesting type 15) gene

Triplet repeats: CAG

(Recall, CAGe has 4 letters)

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36
Q

Wilson’s disease

A

Chromosome: 13

Gene: ATP7B

Encodes for: Copper-transporting ATPase 2

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37
Q

Myotonic dystrophy (Dystrophia myotonica)

A

Type 1: Chromosome: 19; Gene: DMPK; triplet repeat: CTG

Type 2: Chromosome 3: Gene: ZNF9, repeat expansion (4base pair sequence CCTG)

DMPK encodes for Dystrophia myotonica protein kinase

ZNF9 encodes for Zinc finger protein 9

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38
Q

Pendred’s syndrome

A

Chromosome 7

Gene: PDS gene (formerly called), SLC26A4 (now called)

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39
Q

Pseudohypoparathyroidism

A

Chromosome: 20

Gene: GNAS

Encodes for: Gs-alpha (alpha subunit of stimulatory G protein)

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40
Q

Pseudopseudohypoparathyroidism

A

Chromosome: 20

Gene: GNAS

Encodes for: Gs-alpha (alpha subunit of stimulatory G protein)

(Same as pseudohypoparathyroidism)

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41
Q

Nephrogenic diabetes insipidus

A

For X-linked recessive (mainly): Chromosome X; Gene: AVPR 2; Encodes for: Arginin-vasopressin receptor-2

For Autosomal recessive/dominant: Chromosome 12; Gene AQP2; Encodes for Aquaporin-2

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42
Q

Type 1 Diabetes mellitus

A

Polygenic

(Antibody to Glutamate Acid Decarboxylase: GAD)

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43
Q

MODY type 1

A

Chromosome 20

Gene: HNF-4 alpha (hepatocyte nuclear factor 4 alpha)

Encodes: hepatocyte nuclear factor 4 (a transcription factor)

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44
Q

MODY type 2

A

Chromosome 7

Gene: GCK gene (Glucokinase gene)

Encodes: Glucokinase

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45
Q

MODY type 3

A

Chromosome 12

Gene: HNF-1 alpha

Encodes for: Hepatocyte nuclear factor 1 (A transcription factor)

(60% cases of MODY is MODY 3, 20% is MODY 2, <10% is MODY 1)

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46
Q

Liddle’s syndrome

A

Chromosome 16

Gene: SCCNN 1A, 1B, 1G

Encodes for: ENaC (Epithelial Na channel)

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47
Q

Gitelman’s syndrome

A

(Mostly)

Chromosome: 16

Gene: SLC12A3

Encodes for: Thiazide-sensitive sodium-chloride co-transporter

48
Q

Familial Hyper-chylomicronaemia

(Type I dyslipidaemia/hyperlipoproteinaemia/hyperlipidaemia)

A

Chromosome 8

Gene: LPL

49
Q

Familial hypercholesterolaemia

(Type IIA dyslipidaemia/hyperlipidaemia/hyperlipoproteinaemia)

A

Chromosome 19: Gene: LDLR (90% cases)

Chromosome 1: Gene: APOB

LDLR encodes LDL receptor protein (which normally removes LDL from circulation)

APOB encodes for Apolipoprotein B (part of LDL) that binds to receptor

(some more genetic mutations are involved but rare)

50
Q

Familial combined hyperlipidaemia/hyperapobetalipoproteinaemia

(Type IIB Dyslipidaemia/Hyperlipoprotaeinemia/hyperlipidaemia)

A

Chromosome 19; Gene: ApoE

Chromosome 8; Gene: LPL & many others

51
Q

Remnant hyperlipidaemia/Dysbetalipoproteinemia/Broad Beta disease

(Type III dyslipidaemia/hyperlipidaemia/hyperlipoproteinaemia)

A

Chromosome: 19

Gene: APOE-2

Encodes: Apo-lipoprotein E

52
Q

Primary familial hypertriglyceridaemia

(Type IV dyslipidaemia/hyperlipidaemia/hyperlipoproteinaemia)

A

Polygenic

Chromosome 11; Gene: ApoA5 & many more

53
Q

Familial mixed hyperlipidaemia

(Type V dyslipidaemia/hyperlipoproteinaemia/hyperlipidaemia)

A

Chromosome 11

Gene: APOA5

54
Q

Autoimmune polyendocrinopathy syndrome (APS)

A

Type 1: (AKA MENDAC)

Chromosome 21

Gene: AIRE1

Type 2: Polygenic

(Type 1 is autosomal recessive, Type 2 is polygenic)

55
Q

MEN type 1 (= Wermer syndrome)

(Multiple endocrine neoplasia type 1)

A

Chromosome 11

Gene: MEN1 gene (a tumour supressor gene)

56
Q

MEN type IIa (= Sipple syndrome)

(Multiple Endocrine Neoplasia type 2a)

A

Chromosome: 10

Gene: RET oncogene

57
Q

MEN type IIb

(Multiple Endocrine Neoplasia type 2b)

A

Chromosome: 10

Gene: RET oncogene

58
Q

Androgen Insensitivity Syndrome (AIS)

A

Chromosome X

Gene: AR

Encodes for: Androgen receptor

(It has male genotype 46XY, but female phenotype; due resistance to androgen receptor)

(previously called testicular faminisation syndrome)

59
Q

Familial glucocorticoid remediable aldosteronism (GRA) (= Familial hyperaldosteronism type 1)

A

Chromosome 8

Gene: CYP11B1 & CYP11B2

(unequal crossing over between these 2 genes result in chimeric gene)

60
Q

Papillary thyroid carcinoma

A

Chromosome 1

Gene: Trk

Encodes for: Tyrosine kinase receptor

(Activation of tyrosine kinase receptor has a role in papillary thyroid carcinoma)

61
Q

CAH (Congenital adrenal hyperplasia)

A

Chromosome 6

Gene: CYP21A2

62
Q

Carney complex

A

Chromosome 17

Gene: PRKAR1 gene

Encodes for: protein kinase

63
Q

Peutz-Jeghers syndrome

A

Chromosome 19

Gene: STK11 (also called LKB1)

Encodes: Serine threonine kinase

64
Q

Sporadic colon cancer

A

>50% shows allelic loss APC gene on chromosome 5

Others:

Activation/mutation of K-ras oncogene on chromosome 12

Deletion of P53 on chromosome 17

Deletion of DCC gene on chromosome 18

(APC encodes Adenomatour polyposis coli protein has tumour supressor properties

K-ras= oncogene encodes K-ras protein, involed in cell signalling, converts GTP to GDP

P53 is a tumour supressor gene

DCC = Deleted in colorectal carcinoma)

65
Q

HNPCC (Hereditary non-polyposis colorectal carcinoma)

A

More than 7 gene mutations are identified

The most common are:

hMLH1 gene on chromosome 3 (= MLH1)

hMSH2 gene on chromosome 2 (= MSH2)

hMSH6 gene on chromosome 2 (= MSH6)

they encode DNS mismatch repair proteins

66
Q

FAP (Familial Adenomatous Polyposis)

A

Chromosome 5

Gene: APC mutation

(Adenomatous polyposis gene is a tumour supressor gene)

67
Q

ZES (Zollinger Ellison syndrome)

A

30% is part of MEN type 1

So, in 30% cases,

Chromosome 11

Gene: MEN1 gene (a tumour supressor gene)

68
Q

Carcinoma of pancreas

A

The most common: K-ras oncogene on chromosome 12

If associated with HNPCC >> MLH1 gene on chromosome 3

If associated with Peutz Jegher’s syndrome >> STK11 gene on chromosome 19

If associated with dysplastic naevi/melanoma >> CDKN2a gene on chromosome 19

Also, BRCA1, BRCA2, P53

If insulinoma of MEN1 >> MEN1 gene on chromosome 11

69
Q

Cowden’s syndrome

A

Chromosome 10

Gene PTEN

70
Q

Familial Juvenile polyposis

A

Chromosome 18: Gene: SMAD4

Chromosome 10: Gene: BMPR1A

71
Q

Wilson’s disease

A

Chromosome 13

Gene: ATP7B

Encodes: Copper transporting ATPase 2

72
Q

Gilbert’s syndrome

A

Chromosome 2

Gene: UGT1A1 gene

Encodes: UDP glucuronyl transferase

(so, deficiency of UDP glucuronyl transferase)

73
Q

Dubin Johnson syndrome

A

Chromosome: 10

Gene: ABCC2

Encodes: MRP2 (Mutlidrug resistant protein 2)

(It is deficiency of cMOAT: canalicular multispecific organic anion transporter)

74
Q

Rotor syndrome

A

Chromosome 12: SLCO1B1 & SLCO1B2

75
Q

Crigler Najjar syndrome

A

Chromosome 2

Gene: UGT1A1 gene

Encodes: UDP glucuronyl transferase

76
Q

ADPKD (Autosomal dominant polycystic kidney disease)

A

Type 1: Chromosome 16, Gene PKD1, encodes for polycystin-1

Type 2: Chromosome 4, Gene PKD2, encodes for polycystine-2

77
Q

ARPKD (Autosomal Recessive Polycystic Kidney Disease)

A

Chromosome 6, Gene PKHD1, Encodes fibrocystin

78
Q

Alport’s syndrome

A

Chromosome X

Gene: COL 4A5

Encodes: Type IV collagen

(resulting in abnormal glomerular basement membrane - GBM)

AR & AD: COL4A4 and COL4A3

79
Q

Fanconi anaemia (syndrome)

A

Polygenic

80
Q

Renal Tubular Acidosis (RTA) type 3 (Juvenile RTA)

A

Chromosome 8

Gene: CA II

Encodes: Carbonic Anhydrase 2

(So, carbonic anhydrase 2 deficiency)

81
Q

Phenylketonuria (PKU)

A

Chromosome 12

Gene: PAH

Encodes: Phenyl-alanine hydroxylase

82
Q

Cystinuria

A

Chromosome 2: Gene SLC3A1

Chromosome 9: Gene SLC7A9

83
Q

Homocystinuria

A

Chromosome 21

Gene CBS

Encodes: Crystathione Beta-synthetase

84
Q

Alkaptonuria

A

Chromosome 3

Gene HGD

Encodes for: Homogentisate 1,2-dioxygenase

(so, defect in this enzyme)

85
Q

Bladder cancer

A

Chromosome 17p13.1, Gene P53 >> high grade bladder cancer

Chromosome 9p15 and 9p16 mutation >> low grade & superficial tumours

(Many other factor are associated with it)

86
Q

Osteogenesis imperfecta

A

Chromosome 17; Gene COL1A1

Chromosome 7; Gene COL1A2

(For type 1 to type 4, common autosomal dominant types)

87
Q

Lesch-Nyhan syndrome

A

Chromosome X (long arm, q26-26.3)

Gene: HPRT1

Enocodes for: Hypoxanthine Phosphoribosyltransferase

(This gene is involved in purine salvage pathway, so defect results in hyperuricemia/gout)

88
Q

Ankylosing spondylitis

A

Its not a genetic disorder, but in some cases, present in family member/first degree relative >>

Gene: Polygenic

Associated with HLA-B27; All HLA is encoded by chromosome 6

89
Q

Familial Mediterranean Fever (FMF)

(AKA recurrent polysclerositis)

A

Chromosome 16

Gene MEFV

Encodes for: protein pyrin

(PRotein pyrin is present in leukocytes, especially neutrophils & monocytes)

90
Q

Congenital Long QT syndrome

(AKA inherited/familial)

A

For most common variant LQT1

Chomosome 11

Gene KCNQ1

(Other genotypes for other variants)

Genes coding for ion channel proteins

91
Q

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

A

polygenic

92
Q

Wolf-Parkinson White (WPW) syndrome

A

Chromosome: 7

Gene: PRKAG2

93
Q

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

A

Chromosome 1

Gene RYR2 (mainly & for AD)

Encodes Rynodine receptor (present in myocardium sarcoplasmic reticulum)

(Also many other genes)

94
Q

Brugada syndrome

A

For the most common type ( = Brugada syndrome type 1)

Chromosome 3

Gene: SCN5a

Encodes for: Myocardial Na ion channel protein

95
Q

HOCM (Hypertrophic Obstructive Cardiomyopathy)

A

Most important:

Chromosome 14: Gene: MYH7 > Encodes: Beta-myosin heavy chain

Chromosome 1: Gene: TNNT2 > Encodes: Troponin T

Chromosome 15: Gene: TPM1 > Encodes: Tropomyosin 1alpha/Alpha-tropomyosin

Other common:

Chromosome 11: Gene: MYBPC3 > Encodes: Myosin binding protein C

Chromosome 19: Gene: TNNI3 > Encodes: Troponin I

(Others are rare)

96
Q

Inherited Dilated Cardiomyopathy (DCM)

A

Chromosome 5

Gene: SGCD

97
Q

Cystic Fibrosis

A

Chromosome 7 (long arm, q); Region: Delta F508

Gene: CFTR

Encodes: cAMP regulated chloride channel

Delta F508 mutation = deletion of three nucleotides coding for phenylalanine residue

98
Q

Hereditary breast cancer

A

Chromosome 17; Gene BRCA 1

Chromosome 13, Gene BRCA 2

P53 & others are less common

99
Q

Hereditary ovarian cancer

A

Most common: Chromosome 17; Gene BRCA 1

2nd common: Chromosome 13, Gene BRCA 2

p53 & others are less common

100
Q

Porphyria: Acute intermittent porphyria (AIP)

A

Chromosome 11

Gene HMBS

101
Q

Porphyria: Familial, Porphyria cutanea tarda (PCT)

A

Chromosome 6; Gene HFE

Chromosome 1; Gene: UROD

(HFE is also a chromosome of haemochromatosis)

102
Q

Porphyria: Variegate porphyria

A

Chromosome 6, Gene HFE

Chromosome 1, Gene PPOX

(HFE gene is also responsible for PCT & haemochromatosis)

103
Q

Porphyria: Congenital Erythropoietic porphyria (CEP)

A

Chromosome 10

Gene: UROS

104
Q

Abetalipoproteinaemia

A

Chromosome 4

Gene: MTTP

105
Q

Lawrence-Moon-Biedl syndrome

A

Chromosome 19

Gene: PNPLA6

106
Q

Retinitis pigmentosa

A

Polygenic

30% are AR: Chromosome 3: Gene: RHO > Encodes: rhodopsin

Other genes are X-linked, AR, AD

107
Q

Vitamin D resistant Rickets

A

Chromosome X

Gene: PHEX

(Phosphate regulating gene with homology to endopeptidases)

108
Q

Incontinentia Pigmenti (IP)

A

Chromosome X

Gene: NEMO

(NF kappa B essential modulator gene)

109
Q

Periventricular nodular heteroptia

A

Chromosome X

Gene: FLNA

Encodes: Filamin A

110
Q

Rett syndrome

A

Chromosome X

Gene; MeCP2

Encodes: Methyl CpG-binding protein 2

111
Q

Noonan’s syndrome

A

Chromosome 12

Gene: PTPN11 (50% and most common)

Encodes: Protein tyrosine phosphatase non-receptor type 11

Also:Chromosome 15, Gene MAP2K1, Encodes mitogen-activated protein kinase kinase 1 (member of MAPK kinase pathway) & several others

112
Q

Hereditary motor and sensory neuropathy (Charcot- Marie- Tooth disease)

A

For AD: Chromosome 17, Gene: PMP22, Encodes: Peripheral Myelin protein 22

For AD, AR, X-linked; other genes (polygenic)

113
Q

Achondroplasia

A

Chromosome 4

Gene: FGFR 3

Encodes: Fibroblast Growth Factor Receptor 3

114
Q

Pseudoxanthoma elasticum

A

Chromosome 16; Gene: ABCC2, XYLT1

Chromosome 17: Gene: XYLT2

115
Q

Galactosaemia

A

Mainly,

Chromosome 9

Gene: GALT

Encodes: Galactose-1-phosphate uridyl transferase

(uridyl or uridylyl)

Genetics (28 decks)

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