Flashcards in this deck (81)

• What is the mutation for McCune Albright?

  GNAS
  genetics mccune_albright
• What is the inheritance pattern of McCune Albright?

  Sporadic
  genetics mccune_albright
• What are the phenotypes of McCune Albright?

  • CALMs
  • Peripheral precocious puberty
  • Fibrous dysplasia
  • Endocrinopathies (thyroid, GH, etc.)
  genetics mccune_albright
• What is the mutation for X-linked ALD?

  VLCFA, ABCD1 gene
  genetics x-linked_ald
• What is the inheritance pattern of X-linked ALD?

  X-linked recessive
  genetics x-linked_ald
• What are the phenotypes of X-linked ALD?

  • Leukodystrophy
  • Myeloneuropathy
  • Adrenal insufficiency
  genetics x-linked_ald
• What is the mutation for Denys Drash?

  WT1
  genetics denys_drash
• What is the inheritance pattern of Denys Drash?

  AD
  genetics denys_drash
• What are the phenotypes of Denys Drash?

  • Ambiguous genitalia
  • Infant onset nephrotic syndrome
  • Wilms tumour
  genetics denys_drash
• What is the mutation for Lesch-Nyhan?

  HPRT1
  genetics lesch-nyhan
• What is the inheritance pattern of Lesch-Nyhan?

  X-linked recessive
  genetics lesch-nyhan
• What are the phenotypes of Lesch-Nyhan?

  • Elevated uric acid
  • Self-injurious behaviour
  • GDD
  genetics lesch-nyhan
• What is the mutation for Williams Disease?

  Elastin (ELN)
  genetics williams_disease
• What is the inheritance pattern of Williams Disease?

  AD
  genetics williams_disease
• What are the phenotypes of Williams Disease?

  • Supra-aortic stenosis
  • ++friendly
  • Hypercalcemia
  • ID
  • Precocious puberty
  genetics williams_disease
• What are the phenotypes of Prune Belly Syndrome?

  • Absent abdominal muscles
  • Hydronephrosis (and other renal disease)
  • Cryptorchidism
  genetics prune_belly_syndrome
• What is the mutation for Wiskott Aldrich?

  WAS
  genetics wiskott_aldrich
• What is the inheritance pattern of Wiskott Aldrich?

  X-linked recessive
  genetics wiskott_aldrich
• What are the phenotypes of Wiskott Aldrich?

  • Low platelets (small size)
  • Eczema
  • Immunodeficiency (combined)
  genetics wiskott_aldrich
• What is the mutation for Ataxia Telangiectasia?

  ATM (low Ig esp IgA, high AFP)
  genetics ataxia_telangiectasia
• What is the inheritance pattern of Ataxia Telangiectasia?

  AR
  genetics ataxia_telangiectasia
• What are the phenotypes of Ataxia Telangiectasia?

  • Progressive ataxia
  • Neurodegenerative
  • Combined immunodeficiency (mild)
  • Radiation sensitivity
  • Telangiectasia
  genetics ataxia_telangiectasia
• What is the mutation for Hereditary Angioedema?

  C1 esterase inhibitor
  genetics hereditary_angioedema
• What is the inheritance pattern of Hereditary Angioedema?

  AD
  genetics hereditary_angioedema
• What are the phenotypes of Hereditary Angioedema?

  • Angioedema (without urticaria)
  • With stress, cold, trauma, etc.
  genetics hereditary_angioedema
• What is the mutation for Patau Syndrome?

  T13
  genetics patau_syndrome
• What is the inheritance pattern of Patau Syndrome?

  Sporadic
  genetics patau_syndrome
• What are the phenotypes of Patau Syndrome?

  • Midline defects
  • Cleft lip & palate
  • Polydactyly
  • VSD
  • Death
  genetics patau_syndrome
• What is the mutation for Edwards Syndrome?

  T18
  genetics edwards_syndrome
• What is the inheritance pattern of Edwards Syndrome?

  Sporadic
  genetics edwards_syndrome
• What are the phenotypes of Edwards Syndrome?

  • Rocker bottom feet
  • Clenched hands
  • Overlapping fingers
  • VSD
  • Death
  genetics edwards_syndrome
• What are the phenotypes of Pierre Robin Sequence?

  • Retrognathia
  • Tongue displaced posteriorly
  • Upper airway obstruction
  genetics pierre_robin_sequence
• What is the mutation for CHARGE Syndrome?

  CHD7
  genetics charge_syndrome
• What is the inheritance pattern of CHARGE Syndrome?

  AD
  genetics charge_syndrome
• What are the phenotypes of CHARGE Syndrome?

  • Coloboma
  • Heart defects
  • Atresia of choanae
  • Retardation of growth
  • GU anomalies
  • Ear defects
  genetics charge_syndrome
• What is the mutation for Achondroplasia?

  FGFR3
  genetics achondroplasia
• What is the inheritance pattern of Achondroplasia?

  AD
  genetics achondroplasia
• What are the phenotypes of Achondroplasia?

  • Rhizomelic shortening of limbs
  • Frontal bossing
  • Craniocervical junction spinal cord compression
  genetics achondroplasia
• What is the mutation for Alagille?

  NOTCH2, JAG1
  genetics alagille
• What are the phenotypes of Alagille?

  • CHD (PPS, TOF)
  • Butterfly vertebrae
  • Paucity of intra-hepatic bile duct (direct hyperbili)
  • Posterior embryotoxin (eye)
  genetics alagille
• What is the mutation for Smith-Lemi-Opitz?

  DHCR7
  genetics smith-lemi-opitz
• What is the inheritance pattern of Smith-Lemi-Opitz?

  AR
  genetics smith-lemi-opitz
• What are the phenotypes of Smith-Lemi-Opitz?

  • Characteristic facial features
  • 2-3 toe syndactyly
  • Ambiguous genitalia
  • Short stature
  • Microcephaly
  genetics smith-lemi-opitz
• What is the inheritance pattern of Septo-Optic Dysplasia?

  Sporadic
  genetics septo-optic_dysplasia
• What are the phenotypes of Septo-Optic Dysplasia?

  • Optic nerve hypoplasia
  • Absent septum pellucidum
  • Pituitary dysfunction
  genetics septo-optic_dysplasia
• What is the mutation for Bloom Syndrome?

  BLM
  genetics bloom_syndrome
• What is the inheritance pattern of Bloom Syndrome?

  AR
  genetics bloom_syndrome
• What are the phenotypes of Bloom Syndrome?

  • “Butterfly” photosensitive erythematous rash
  • Cancer (DNA repair syndrome)
  • Immunodeficiency
  genetics bloom_syndrome
• What is the mutation for Dravet?

  SCN1A
  genetics dravet
• What is the inheritance pattern of Dravet?

  AD (majority de novo)
  genetics dravet
• What are the phenotypes of Dravet?

  • Normal development
  • Febrile seizure
  • Progressive refractory seizures
  • Developmental regression
  genetics dravet
• What is the mutation for Rett’s?

  MECP2
  genetics rett’s
• What is the inheritance pattern of Rett’s?

  X-linked dominant
  genetics rett’s
• What are the phenotypes of Rett’s?

  • Progressive developmental regression
  • Loss of language
  genetics rett’s
• What is the phenotype of Landau Kleffner syndrome?

  • Normal development
  • Language regression
  • Seizures
  • Continuous spike & wave during sleep
  neurology syndromes
• What is the mutation/testing for Charcot Marie Tooth disease?

  • Many
  genetics neurology
• What is the phenotype of Charcot Marie Tooth disease?

  • Progressive peripheral neuropathy
  • Clumsiness/hypotonia
  • Tight heel cords
  • Areflexia
  neurology syndromes
• What is the mutation/testing for Duchenne muscular dystrophy?

  • DMD
  genetics muscular_dystrophy
• What is the inheritance pattern of Duchenne muscular dystrophy?

  • X-linked recessive
  genetics inheritance
• What is the mutation/testing for Congenital Myotonic Dystrophy?

  • MDPK (AD trinucleotide repeat CTG)
  genetics muscular_dystrophy
• What is the phenotype of Congenital Myotonic Dystrophy?

  • Elevated CK
  • Abnormal cognition
  • Myopic faces
  • Parents with grip myotonia
  neurology muscular_dystrophy
• What is the mutation/testing for Fragile X syndrome?

  • FMR1 (X-linked dominant trinucleotide repeat CGG)
  genetics syndromes
• What is the phenotype of Fragile X syndrome?

  • GDD
  • ASD
  • ADHD
  • Distinct facial features
  • Macro-orchidism
  neurology syndromes
• What is the mutation/testing for Congenital Myopathy?

  • RYR1
  genetics muscular_dystrophy
• What is the phenotype of Congenital Myopathy?

  • Normal CK
  • Normal cognition
  neurology muscular_dystrophy
• What is the mutation/testing for Spinal Muscular Atrophy (SMA)?

  • SMN1
  genetics neurology
• What is the inheritance pattern of Spinal Muscular Atrophy (SMA)?

  • AR
  genetics inheritance
• What is the phenotype of Spinal Muscular Atrophy (SMA)?

  • Normal cognition
  • Severe muscle weakness
  • Absent reflexes (neuromuscular junction)
  neurology muscular_dystrophy
• What is the mutation/testing for Tuberous Sclerosis?

  • TSC1/2
  genetics syndromes
• What is the inheritance pattern of Tuberous Sclerosis?

  • AD (majority de novo)
  genetics inheritance
• What is the mutation/testing for Neurofibromatosis Type 1 (NF1)?

  • NF1
  genetics syndromes
• What is the inheritance pattern of Neurofibromatosis Type 1 (NF1)?

  • AD
  genetics inheritance
• What is the phenotype of Neurofibromatosis Type 1 (NF1)?

  • Lisch nodules (eye)
  • CALMs
  • Axillary freckling
  • Optic glioma
  • Neurofibromas
  neurology syndromes
• What is the mutation/testing for Incontinentia Pigmenti?

  • IKBKG
  genetics syndromes
• What is the inheritance pattern of Incontinentia Pigmenti?

  • X-linked dominant
  genetics inheritance
• What is the phenotype of Incontinentia Pigmenti?

  • Linear rash (vesicular → hyper → hypopigmented)
  • Seizures
  • GDD
  • Alopecia
  neurology syndromes
• What is the mutation/testing for Angelman and Prader Willi syndromes?

  • 15q11–q13 (Methylation)
  genetics syndromes
• What is the phenotype of Angelman syndrome?

  • Microcephaly
  • Seizures
  • Severe GDD
  • Happy demeanor
  • No speech
  neurology syndromes
• What is the mutation/testing for Russell Silver syndrome?

  • 11q15 (Methylation)
  genetics syndromes
• What is the phenotype of Russell Silver syndrome?

  • IUGR with relative macrocephaly
  • Growth delays
  • Triangular face
  neurology syndromes
• What is the mutation/testing for Beckwith-Wiedemann syndrome?

  • 11q15 (Methylation)
  genetics syndromes