Inheritance Pattern of Diseases

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.

System Disorder
Nervous Huntington disease
Neurofibromatosis
Myotonic dystrophy
Tuberous sclerosis
Metabolic Familial hypercholesterolemia
Acute intermittent porphyria
Hematopoietic Hereditary spherocytosis
Von Willebrand disease
Urinary Polycystic kidney disease
Gastrointestinal Familial polyposis coli
Skeletal Ehlers-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.

System Disorder
Nervous Neurogenic muscular atrophies
Friedreich ataxia
Spinal muscular atrophy
Metabolic Cystic fibrosis
Phenylketonuria
Galactosemia
Homocystinuria
Lysosomal storage disorder
α1 – Antitrypsin deficiency
Wilson disease
Hemochromatosis
Glycogen storage diseases
Hematopoietic Sickle cell anemia
Thalassemias
Endocrine Congenital adrenal hyperplasia
Skeletal Ehlers-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.

System Disorder
Nervous Fragile X syndrome
Metabolic Diabetes insipidus
Lesch-Nyhan syndrome
Hematopoietic Hemophilia A and B
Chronic granulomatous disease
G6PD deficiency
Immune Agammaglobulinemia
Wiskott-Aldrich syndrome
Musculoskeletal Duchene 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.

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