Genetic conditions  with their inheritance modes

Autosomal recessive

Acatalasia

Acrodermatitis enteropathica

Afribrinogenemia

Albinism

Alkaline phosphate deficiency

Alkaptonuria

Infantile amaurotic idiocy

Juvenile amaurotic idiocy

Atheroma

Argininosuccinic aciduria

Blue or grey eyes

Brachymorphia with spherophakia

Carnosinemia

Citrullinemia

Cretinism (goitrous)

Cystathioninuria

Cystinosis

Cystinuria

Deaf-mutism

Adherent ear lobes

Epidermolysis bullosa

Fanconi’s syndrome

Fibrocystic disease (cystic fibrosis) of pancreas

Freesia

Friedreich’s ataxia

Fructosuria

Gaucher’s disease

Galactosemia

Glucose-6-phosphatase deficiency

Hartnup disease

Histidinemia

Homocystinuria

Hurler’s syndrome

Non-kettotic hyperglycinaemia

Hyperlysinemia

Hyperoxaluria

Hypersarcosinemia

Hypervalinemia

Hyperphosphatasia

Hypoprolinemia

Hypercalcuria

Hypersacosinemia

Hypervalinemia

Hypophosphatasia

Hypoprolinemia

Ichthyosis congenita

Isovaleric acidemia

Slow inactivation of isoniazid

Lawrence–Moon-Biedl syndrome

Lipoidosis of skin

Lipoid proteinosis

Sarple syrup disease

McArdle’s syndrome

Methylmalonic aciduria

Morquio’s disease

Night blindness with myopia

Oligophrenia

Orotic aciduria

Osteochondrodystrophia

Oxalosis

Pentosuria

Phenylketonuria

Phenyl-thio-urea taster/non taster

Polydactyly

Proprioic acidemia

Congenital porphyria

Retinitis pigmentosa with deafness

Secretor factor

Spina bifida

Tyrosinosis

Xanthinuria

Xeroderma pigmentosa

Wilson’s disease

 

Autosomal dominant traits

 

Absence of incisors

Acholuric jaundice

Achondroplasia

Albinism

Angioneurotic oedema

Anidrotic ectodermal dysphasia

Aniridia

Anomalies of the iris

Anonychia

Apical dystrophy of fingers

Aplasia cutis congenita

Arachnodactyly

Atheroma

Atopic disease allergy

Auditory nerve atrophy

Benign cystic epithelioma

Brachydactyly

Bullous eruption of feet

Canities prematura

Cholinesterase control

Club foot

Congenital cataract

Congenital polycystic kidneys

Coronary arteriosclerosis

Crigler-Najjar syndrome

Darier’s disease

Deep acetabulum of pelvis

Defective enamel of teeth

Diabetes insipidus

Diaphyseal aclasis

Ehler’s Danlos syndrome

Elliptocytosis

Epicanthus

Epiloia

Facio-scapulo-humeral muscular dystrophy

Flattened acetabulum

Fundus dystrophy

Fusion of deciduous teeth

Glaucoma

Gout with hypercorticemia

Habsburg jaw

Haemochromatosis

Haemophilia A

Haemorrhagic telengectasia

Heberden’s nodes

Hereditary telactectasia

Huntington’s chorea

Ichthyosis vulgaris

Imperfect ossification of membrane bones

Keratodermia

Labyrinthine deafness

Lachrymal duct stenosis

Lymphoedema

Macula coloboma

Mandibulo-facial dystostosis

Marfan’s syndrome

Marie’s cerebellar ataxia

Microcornea

Monilethrix

Mild dystrophic epidermolysis

Multiple cystic adenoma

Multiple sebaceous cysts

Multiple polypi of colon and rectum

Nasal sinus infection (extreme)

Nephrosclerosis leading to essential hypertension

Neurofibromatosis leading to malignancy

Night blindness

Nystagmus

Opalescent dentine

Optic nerve atrophy

Osler’s disease

Osteoarthritis

Osteogenesis imperfecta

Otosclerosis

Ovalocystosis

Pelger’s anomaly

Periodicarthralgia

Periodic familial paralysis

Perthe’s disease

Peutz-Jagher’s syndrome

Phalangeal synostosis

Piebalding

Pityriasis rubra pilaris

Premature baldness

Progressive ophthalmoplegia

Psoriasis

Ptosis

Polydactyly

Porokeratosis

Porphyria

Renal glycosuria

Renal tubular acidosis

Retinitis pigmentosa without deafness

Retinoblastoma

Simple epidermolysis

Spastic paraplegia

Spherocytic anemia

Spina bifida

Split hand and foot

Squint

Supernumerary teeth

Symphalangism

Syndactyly

Tuberous sclerosis

Tylosis palmaris and plantaris

White forelock (only in males)

Von Willebrand’s disease

Woolly hair in a European

Xanthomatosis

 

Intermediate heterozygotes

 

Cholinesterase control

Curly staright, wavy hair in Europeans

Haptoglobulin-1

Haptoglobulin-2

Minor rachydactyly

Red hair

Sickle cell anemia

Thalassemia

 

X linked recessives

 

Agammaglobinemia

Anidrotic ectodermal dysphasia

Choroideremia

Christmas disease

Chronic granulomatous disease

Red-green colour blindness

Diabetes insipidus

Haemophilia

Hurler’s syndrome

Ichthyosis vulgaris

Incomplete albinism

Lesch-Nyhan syndrome

Absence of macula lutea

Muscular dystrophy of childhood

Night blindness with myopia

Optic nerve atrophy

Osteochondrodystrophia

Retinitis pigmentosa without deafness

 

X linked dominants

 

Dark brown eye colour

Defective enamel of teeth

Nephrogenic diabetes insipidus

Glucose 6 phosphate dehydrogenase deficiency

Hypophosphatemia

Missing incisors

Nystagmus

Vitamin D resistant rickets

 

Partial Sex Linkage (Doubtful)

 

Dystrophic epidermolysis

Oguchi’s disease

Pseudoxanthoma elasticum

Retinitis pigmentosa without deafness

Spastic paraplegia

Total colour blindness

Xeroderma pigmentosum

 

Y linkage

 

Hairy ears

Male sex determination

 

Conditions which may or may no be unifactorial (Some are multifactorial)

 

Alopecia areata

Chronic hypochromic anemia

Cleft palate

Cystinuria

Disseminated sclerosis

Diabetes mellitus

Essential hypertension

Epilepsy

Erythremia

Gout

Grave’s disease

Hare lip with or without cleft palate

Hereditary nephritis

Hirschprung’s disease

Hydroxyprolinemia

Hyper-β-alaninemia

Leber’s disease

Β-metacaptolactate-cysteine disulphiduria

Midphalaceal hair

Paralysis agitans

Pernicious anemia

Radial loop on thenar area

Radial loop on hypothenar area

Rheumatoid arthritis

Red skin trait

Sulphituria

 

 

 

 

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