Syndromes affecting the kidneys

chromosomal variation where a person is born with a 45X chromosome pattern rather than the typical 46XX

Human disease

Human disease

hypersensitivity reaction type II disease that is characterized by glomerulonephritis located in kidney and hemorrhaging located in lung

monogenic disease characterized by glomerulonephritis, endstage kidney disease, and hearing loss

medical condition

Human disease

rare genetic syndrome

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of free cystine, the oxidized dimer of the amino acid cysteine in lysosomes, eventually leading to intracellular crystal formation throughout the body, e.g. in kidneys.

Human disease

Human disease

medical condition with the kidneys

disease

ciliopathic human genetic disorder that produces many effects and affects many body systems

Human disease

Human disease

pediatrics cases

characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14

autosomal dominant genetic disorder involving the kidneys, ears, and neck

Human disease

Human disease

human disease

condition where a dysfunction of heart or kidney results in failure of the other organ

syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome

medical condition

autosomal recessive disease characterized by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome

Autosomal dominant genetic condition

medical condition

3MC congenital syndrome associated with the COLEC10 gene on chromosome 8q24

complication of dialysis