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Inheritance Pattern of Diseases

Autosomal Dominant Disorders

It is a mode of inheritance that only requires one allele from an autosome chromosome, passed on from either mother or father, for the phenotypical expression of a trait or disorder in progeny.

SystemDisorder
NervousHuntington disease
Neurofibromatosis
Myotonic dystrophy
Tuberous sclerosis
MetabolicFamilial hypercholesterolemia
Acute intermittent porphyria
HematopoieticHereditary spherocytosis
Von Willebrand disease
UrinaryPolycystic kidney disease
GastrointestinalFamilial polyposis coli
SkeletalEhlers-Danlos syndrome (Some variants)
Marfan syndrome
Osteogenesis imperfecta
Achondroplasia

Autosomal Recessive Disorders

It is a mode of inheritance that requires two homozygous recessive alleles from autosome chromosomes, one from the mother and one from the father, for the phenotypical expression of a trait or disorder in progeny.

SystemDisorder
NervousNeurogenic muscular atrophies
Friedreich ataxia
Spinal muscular atrophy
MetabolicCystic fibrosis
Phenylketonuria
Galactosemia
Homocystinuria
Lysosomal storage disorder
α1 – Antitrypsin deficiency
Wilson disease
Hemochromatosis
Glycogen storage diseases
HematopoieticSickle cell anemia
Thalassemias
EndocrineCongenital adrenal hyperplasia
SkeletalEhlers-Danlos syndrome (Some variants)
Alkaptonuria

X- Linked Dominant Disorders

It is a mode of inheritance that only requires one copy of a mutated allele on the X chromosome, from either the mother or father, for the phenotypical expression of the trait or disorder in progeny.

Hypophosphatemic rickets
Incontinenta pigmenti
Alport syndrome
Orofacial digital syndrome

X- Linked Recessive Disorders

It is a mode of inheritance that requires two copies of an allele on the X chromosome, one from the mother and one from the father, for the phenotypical expression of a trait or disorder in progeny.

SystemDisorder
NervousFragile X syndrome
MetabolicDiabetes insipidus
Lesch-Nyhan syndrome
HematopoieticHemophilia A and B
Chronic granulomatous disease
G6PD deficiency
ImmuneAgammaglobulinemia
Wiskott-Aldrich syndrome
MusculoskeletalDuchene muscular dystrophy
Menkes disease
Pelizaeus- Merzbacher disease

Mitochondrial Disorders

It is a mode of inheritance that involves the transmission of mutated alleles in the mitochondrial genome through maternal lineage only.

Leber’s optic Neuropathy
Leigh’s disease
MELAS
NARP syndrome

Polygenic inheritance

It is a trait controlled by the interaction of two or more genes at different loci without interaction with the environment

Type 1 Diabetes
Type 2 Diabetes
Hypertension
Androgenic alopecia
Atopic disease
Psoriasis
Schizophrenia
Alzheimer disease

Multifactorial inheritance disorders (MID)

Disorders that result from a combination of mutations in multiple genes and environmental factors.

Type 2 Diabetes mellitus
Cleft palate
Neural tube defects
Schizophrenia
Coronary artery disease

Chromosomal Disorders

Trisomy 21 – Down syndrome

Trisomy 22 – Cat eye syndrome (Partial trisomy of chromosome 22)

Extra X chromosome – Klinefelter Syndrome

Monosomy of X chromosome – Turner Syndrome

Nunan syndrome – autosomal dominant disorder (Mutation at Chromosome 12)

LYON’S HYPOTHESIS – Only one of the X chromosome is genetically active.

04/12/2022
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