Inheritance pattern Flashcards
Myotonic dystrophy
AD
DM1: DMPK1 gene, CTG repeat
DM2
Dent’s Disease
X-linked
Bartters/Gitelman’s
AR
Sturge Weber
Somatic mosaic mutation
NF1
Autosomal dominant, 50% sporadic
NF2
Autosomal dominant, 50% sporadic
Tuberous Sclerosis 1/2
Autosomal dominant, 75% sporadic
Williams
Autosomal dominant
Alagille
Autosomal dominant
Marfan’s
Autosomal dominant
Ehlers Danlos
Autosomal dominant
Osteogenesis imperfecta
Autosomal dominant
Stickler Syndrome
Autosomal dominant
Brachio-oto-renal syndrome
Autosomal dominant
Diamond Blackfan Anaemia
Autosomal dominant
Von Hippel Lindau Syndrome
Autosomal dominant
Cornelia De Lange Syndrome
Autosomal dominant
Waardenburg Syndrome
Autosomal dominant
Costello Syndrome
Autosomal dominant
Noonan Syndrome
Autosomal dominant
Cardiofasciocutaneous syndrome
Autosomal dominant
Treacher-Collins Syndrome
Autosomal dominant
A1AT Deficiency
Autosomal dominant
Achondroplasia
Autosomal dominant
Apert
Autosomal dominant
Crouzon
Autosomal dominant
Pfeiffer
Autosomal dominant
ADPKD
Autosomal dominant
Familial Adenomatous Polyposis
Autosomal dominant
Li Fraumeni
Autosomal dominant
MEN1, MEN 2A & B
Autosomal dominant
Charcot-Marie-Tooth
Autosomal dominant
CHARGE
Autosomal dominant
Hypomelanosis of Ito
Autosomal dominant
Osler-Weber-Rendu (HHT)
Autosomal dominant
Gilbert
Autosomal dominant
Peutz-Jeghers
Autosomal dominant
Myotonic dystrophy
Autosomal dominant
MD1 = DMPK
- GTG triplet repeat
- Anticipation- maternal
Huntingtons
Autosomal dominant
- CAG triplet repeat
- Anticipation-paternal
CF
Autosomal recessive
Wilson disease
Autosomal recessive
Fanconi Anaemia
Autosomal recessive
Homocysteinuria
Autosomal recessive
ARPKD
Autosomal recessive
Bartter/Gitelman
Autosomal recessive
Thalassemia
Autosomal recessive
Sickle cell anaemia
Autosomal recessive
Glanzman Thrombasthenia
Autosomal recessive
Smith-Lemli-Opitz
Autosomal recessive
Cartillage-Hair-Hypoplasia
Autosomal recessive
Carpenter
Autosomal recessive
Ataxia-Telangectasia
Autosomal recessive
Metachromatic Leukodystrophy
Autosomal recessive
SMA
Autosomal recessive
Tay-Sachs
Autosomal recessive
TAR (thrombocytopenia absent radii)
Autosomal recessive
Freidrich’s ataxia
Autosomal recessive
Crigler Najjar
Autosomal recessive
Kartageners/PKD
Autosomal recessive
Gluc-galactose malabsorption
Autosomal recessive
Congenital chloride diarrhoea
Autosomal recessive
PKU
Autosomal recessive
Congenital deafness
Autosomal recessive
DMD
X-linked recessive
Myotonia congenita (Thomsen disease)
Autosomal dominant
Facioscapulohumeral dystrophy
Autosomal dominant
Albrights hereditary osteodystrophy
Imprinting
- maternal = pseudohypoPTH
- paternal= no PTH
Fanconi Anemia
AR
Haemophilia A
X-linked
Haemophilia B
X-linked
Haemophilia C
AR
Hermanksy-Pudlak/Chediak-Higashi
AR
Glanzmann/Bernard-Soulier
AR
MYH9-related thrombocytopenia
AD
Leber Hereditary optic neuropathy
Mitochondrial
Pearson syndrome
Mitochondrial disorder
- Anaemia- lack erythroid/myeloid progenitors
- FTT, exocrine pancreas failure, hypotonia & renal tubulopathy
Can progress to Kearn Sayre- opthalmoplegia, ataxia, AV conduction block, myopathy
Diamond-Blackfan anaemia
Autosomal dominant
(ribosomopathy)- elevated ADA
Fanconi anemia
AR/X-linked
Chromosome fragility
Positive chromosome breakage study
Alagille
AD
ARC syndrome
AR
Arthrogryoposis, renal tubular dysfunction, cholestasis syndrome
Dubin-Johnson
AR
