Hajdu-Cheney syndrome (HJCYS) is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed notch pathway that plays a role in bone formation leads to these anomalies.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
Osteopathies or chondropathies
FB86 Disorders associated with bone growth
H00623 Hajdu-Cheney syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H00623 Hajdu-Cheney syndrome
Isidor B, Lindenbaum P, Pichon O, Bezieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C
Title
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and tetralogy of Fallot. Affected individuals show typical facies and abnormal butterfly vertebrae as well. Mutations in the Notch pathway cause ALGS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the liver, biliary tract, pancreas or spleen
LB20 Structural developmental anomalies of gallbladder, bile ducts or liver
H00551 Alagille syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06511 NOTCH signaling
H00551 Alagille syndrome
