List of hereditary diseases

Cleft lip and palate

Neurofibromatosis type 1

Deformed red blood cell (sickle cell)

This list of hereditary diseases contains some of the most common hereditary diseases in humans. A distinction is made between benign diseases and tumor diseases.

Benign hereditary diseases

illness	Inheritance	Chromosome / gene	description
Albinism	Autosomal recessive	Chromosome 11 , locus q14-21, chromosome 15 , locus q11-13, chromosome 9 , locus p23, chromosome 5 , locus p13.3	Lack of synthesis of melanin leads to light or white hair, eyes and skin color
Alpha-1 antitrypsin deficiency	Autosomal recessive	Chromosome 14 , locus q32.1	An increased risk of liver cirrhosis or pulmonary emphysema due to a congenital lower concentration of this enzyme
Chorea huntington	Autosomal dominant	Chromosome 4 , locus p16.3	Fatal motor and mental disorders due to the increased incorporation of glutamine in the protein huntingtin
Galactosemia	Autosomal recessive	Chromosome 9	If left untreated, the intracellular storage of galactose is often fatal due to the lack of the enzyme galactose-1-phosphate uridyl transferase
Hemophilia A.	X-linked	X chromosome	Increased bleeding tendency due to a lack of coagulation factor VIII
Hemophilia B.	X-linked	X chromosome	Increased bleeding tendency due to a lack of coagulation factor IX
cretinism	Autosomal recessive or dominant	Multiple genes, e.g. B. Chromosome 2 , locus q14.1 and chromosome 14 , locus q31.1	Short stature, deformity of the limbs, speech disorders and intellectual disorders caused by a congenital deficiency of thyroid hormone ( thyroxine )
Cleft lip and palate	Polygenetic	(multiple genes)	Congenital splitting of the lips, upper jaw, roof of the mouth, or a combination of these
Metachromatic Leukodystrophy	Polygenetically autosomal recessive	(multiple genes)	Unsteady gait, speech disorders due to lack of aryl sulfate
Mucopolysaccharidosis type 1	Polygenetically autosomal	(multiple genes)	Different symptoms that only appear in childhood due to the storage of glycosaminoglycans in cells.
Cystic fibrosis	Autosomal recessive	Chromosome 7 , locus q31.2	Dysfunction of the lungs and pancreas due to the formation of tough mucus, leading in the end stage to lung failure or pancreatic insufficiency
Neurofibromatosis	Autosomal dominant (spontaneous mutation in 50% of cases)	Chromosome 17 , locus q11.2	Development of benign tumors on the skin, in the eyes and bones, and in the central nervous system
Phenylketonuria	Autosomal recessive	Chromosome 12 , locus q22 to q24	Impaired brain development and skull growth due to a lack of the enzyme phenyl alanine hydroxylase
Sickle cell disease	Autosomal codominant	Chromosome 11	Deformities of the red blood cells lead to painful crises; symptomatic only in the homozygous form
Spinal muscular atrophy	Autosomal recessive	Chromosome 5 , locus q13	Muscle wasting due to the loss of motor nerve cells in the spinal cord
Tay-Sachs syndrome	Autosomal recessive	Chromosome 15 , locus q23-24	Severe intellectual disability with blindness from birth; the fewest children affected are older than three years
Cystic kidneys	Autosomal recessive	Chromosome 16	Development of multiple cysts in the kidneys from adulthood, leading to renal failure in the end-stage

Hereditary tumor diseases

literature

Jan Diether Murken, pocket textbook human genetics , Thieme Verlag, Stuttgart 2017
Christian P. Schaaf, Basic Knowledge of Human Genetics , Springer-Verlag, Berlin-Heidelberg 2013