Congenital polycythemia or familial erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia sensing. In primary polycythemias there is an innate defect in the hematopoietic progenitors which allows constitutive overproduction whereas in secondary polycythemias normal progenitors are acted on by serum erythropoietin.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
Polycythaemia
3A80 Congenital polycythaemia
H00236 Congenital polycythemia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06518 JAK-STAT signaling
H00236 Congenital polycythemia
Cellular process
nt06535 Efferocytosis
H00236 Congenital polycythemia
Microvascular complications of diabetes (MVCD) caused by damage in the small blood vessels contribute to pathologic and functional changes in many tissues, including eye, heart, kidney, skin, and neuronal tissues. These changes are traditionally known as diabetic retinopathy, nephropathy, and neuropathy.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Disorders of nerve root, plexus or peripheral nerves
Polyneuropathy
8C03 Other secondary polyneuropathy
H02559 Microvascular complications of diabetes
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B71 Retinopathy
H02559 Microvascular complications of diabetes
16 Diseases of the genitourinary system
Diseases of the urinary system
Kidney failure
GB61 Chronic kidney disease
H02559 Microvascular complications of diabetes
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H02559 Microvascular complications of diabetes
Tong Z, Yang Z, Patel S, Chen H, Gibbs D, Yang X, Hau VS, Kaminoh Y, Harmon J, Pearson E, Buehler J, Chen Y, Yu B, Tinkham NH, Zabriskie NA, Zeng J, Luo L, Sun JK, Prakash M, Hamam RN, Tonna S, Constantine R, Ronquillo CC, Sadda S, Avery RL, Brand JM, London N, Anduze AL, King GL, Bernstein PS, Watkins S, Jorde LB, Li DY, Aiello LP, Pollak MR, Zhang K
Title
Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications.
Marre M, Jeunemaitre X, Gallois Y, Rodier M, Chatellier G, Sert C, Dusselier L, Kahal Z, Chaillous L, Halimi S, Muller A, Sackmann H, Bauduceau B, Bled F, Passa P, Alhenc-Gelas F
Title
Contribution of genetic polymorphism in the renin-angiotensin system to the development of renal complications in insulin-dependent diabetes: Genetique de la Nephropathie Diabetique (GENEDIAB) study group.
