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Disease Inheritance

QuestionAnswer
Incontinentia Pigmenti XLD Seizures, catarracts, Bullae
Goltz Syndrome XLD focal dermal hypoplasia
Rett Syndrome XLD Developmental delay, seizures, hand wringing
Vitamin D resistant Rickets XLD Ricketts
Alport XLR SN Deafness, Nephritis, Anterior lentoconus
Becker MD XLR Walk beyond 16, no LD
DMD XLR 95% not walking at 12y, LD
Fabry XLR Angiofibromas, Kidney Failure, Pain. Galactosidase deficiency leads to deposition in blood vessels
Fragile X XLR Trinucleotide (non-polyglutamine) LD and autism, Macroorchidism, Lax joints
G6PD XLR Haemolytic anaemia
Haemophila A XLR Joint Bleeds, muscle bleeds, brusing
Haemophilia B XLR Joint Bleeds, muscle bleeds, brusing
Hunter Syndrome XLR Like Hurler, No corneal clouding, scapular nodules
Lesch Nyhan XLR Hypotonia, Self mutlation , LD
Ocular Albunism XLR Presents in eyes
Testicular Feminisation XLR Primary amenorrhoea, failure of secondary hair development, inguinal herniae
Wiskott Aldrich XLR Eczema, thrombocytopaenia, recurrent infections
Achondroplasia AD Megalocephaly, short limbs, hydrocephalus
Alagille AD butterfly vertibrae, corneal embryotoxin, intrahepatic cholestatis
Ehlers Danlos AD Hypermobile, MR, dental crowding
Marfans AD high arched palate, cardiac, lens dislocation
Faciascapulohumeral dystrophy AD Facial weakness, Lordosis, muscular dystrophy
FAP (2) AD GI bleed stoamch and other cancer
Familial Hypercholesterolaemia (0) AD
Gilbert AD Unconjugated hyperbilirubinaemia
Huntington AD Trinucleotide (polyglutamine) personality change, dementia, chorea
Myotonic Dystrophy AD Trinucleotide (non-polyglutamine) Progressive weakness, contractures, cardiac involvement
NF (6) AD Cafe-Au-Lait, Axiliary freckling, Fribroma-eye Skeletal, pedegree, optic tumour
Noonan AD PS>HOCM> ASD, Sheild chest, wide spaced nipples
Porphyrias AD Abdo pain, Neuropathy, psychiatric
TS (4) AD Adenoma sebacium, Shagreen patch, Ash leaf macule, periungual fibroma
von Willebrand AD mucosal bleeding, menorrhagia, miscarriage
Alkaptonuria AR pigmented sclera, dark urine and sweat, kidney stones
Ataxia Telangectasia AR, Chromasome Breakage Conjuntival telangectasia, low IgA, cerebellar ataxia
B Thalassaemia AR
CAH AR Ambigious genitalia / precocious puberty, hypotension
Crigler-Najar AR/AD Unconjugated billirubin
Dublin Johnson(1) AR conjugaated hyperbillirubinaemia
Fanconi Anaemia(1) AR, Chromasome Breakage Aplastic anaemia
Galactoseaemia (4) AR Oil drop cataract, fanconi syndrome, ecoli sepsis, liver failure
G6PD (not G6PDD) - von gierkes AR see GSD + massive splenomegaly and nephromegaly
Glycogen storage disorders (2) AR hepatomegaly neonatal hypoglycaemia
Homocytinuria (marfans +4) AR Downward less, stiff joints, Thrombosis, cataract
Haemochromatosis AR Cirrhosis, diabetes, cardiomyopathy
MPS AR
Oculocutaneous Albinism AR Oculocutaneous Albinism
PKU AR Delay, Eczema, Hypopigmentation
Rotor AR Conjugated bilirubin
Sickle Cell (2) AR Anaemia, Crises
SMA AR Muscle weakness, LD, tongue fasiculations
Wilsons AR Liver, Movement disorder, sunflower ctaract
XP AR, Chromasome Breakage Sunburn, Skin cancer, cataract
Bloom (2) AR, Chromasome Breakage Malar rash, Leukaemia
Spinocerebellar Ataxia (1) Trinucleotide (polyglutamine) cerebellar signs
Freidrich Ataxia AR, Trinucleotide (non-polyglutamine) Dorsal column loss, Ataxia, HCM
SCID XLR Dirrhoea, failure to thrive, candida
Adrenoleukodystrophy XLR Adrenal suppression, quadroplegia, seizures
Chediak Higashi AR Partial OCA, neutrophil dysfunction, ataxia
Pendred AR Deafness, Goitre, Sometime hypothyroid
Alpha-1-antripson AR Liver failure, emphysema
Schwachman Diamond AR Short, Pancreatitis, Aplastic anemia
Cyclical Neutropaenia AD Cyclical Neutropaenia
Waardenbergs AD White forelock, Heterochromic irises, Biliat SN deafness
Hurler AR Corneal Clouding, hepatosplenomegaly, Dysostosis multiplex
Nethertons AR Icthyosis
Omenn AR Erythroderma
Steroid sulphatase deficiency XLR Ichthyosis
Cockayne AR Growth failure, LD, poor dentition
Lowe XLR Oculo-cerebro-renal
Oslet-Weber-Rendu AD Telangectasia, AV malformations, GI polyps
Spherocytosis AD Haemolytic Anaemia
Russell Silver Imprinting, Maternal uniparental Disomy hypoglycaemia, clinodactly, dwarfism
Kallman XLR Colour blindness, anosmia, hypogonadotrophic hypogonadism
Mccune Albright Post zygotic mutation, Mosacism Central Precocious puberty, Polyostotic fibrous dysplasia, Cafe au lait spots - unilateral
Bardet-Biedl (4) AR Retinitis Pigmentosa, polydactly, Truncal obesity, male hypogonadism
TAR Sporadic deletion Ch1 Absent Radii, Present thumbs, Transient thrombocytopaenia
Holt Oram Sporadic (TVX5 Gene) Absent hand bones, Cardiac (ASD / VSD)
Romano Ward AD Long QT
Marcus Gunn (1) AD Jaw winking
Batten AR Juvenile Neuronal Ceroid Lipofuscinosis
Tay Sachs AR gangliosidase Regression <1, cherry red macula, macrocephaly
Beckwith Wiedeman Imprinting Overgrowth, hypoglycaemia, Wilms Tumour
Kalar Azar Infection Visceral leishmaniasis
McArdle AR Glycogen storage disorder, poorexercise tolerance, myoglobinuria
HOCM AD Murmur, Arrythmia, Sudden death
Leopard Syndrome AD Lentigines, ECG, Ocular hypertelorism, PS, Abnormal Genitalia, Retardation, Deafness.
Familial Periodic Paralysis AD Contractures during exercise
Refsum (2) AR Retinitis Pigmentosa, Neuropathy
Jervell-Lang-Neilsen (1) AR Long QT
Romano Ward (1) AD Long QT
Gaucher AR Cerebrosidase, Splenomegaly, Muscle pains, Acid phosphatase
Reye Not Liver, pancreas, Kidney failure
Bannayan Riley AD Harmatomatous, Macrocephaly, LD, Tumours
Pompe AR Hypotonia, Hyporeflexia, Large Tongue
MCAD AR Reye like, SIDS, Hepatomegaly
LCHAD AR as MCAD + HOCM, pigment retinopathy, peripheral neuropathy
OTC XLR Vomiting, encephalopathy tachypnoea
Glutaric Aciduria AR Macrocephaly, bilat subdural, encepha-lopathy precipitated by infection
Non Ketotic hyperglycinaemia (1) AR Seizures
Maple Syrup Urine disease AR Seizures, encephalopathy, sweet smell
Tyrosinaemia AR Liver Failure, HCC, Fanconis
Menkes (2) XLR Infantile Delay, Hair
Created by: jdrf28
 

 



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