acroosteolysis dominant type
A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0003157
disappearing bone disease
is_a
MONDO:0005554
rheumatic disorder
is_a
MONDO:0007056
acroosteolysis
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
Arthrodentoosteodysplasia
exact
Cheney syndrome
exact
HJCYS
related
Hajdu Cheney Syndrome
exact
Hajdu-Cheney syndrome
exact
Hajdu-Cheney syndrome-NOTCH2
exact
acrodentoosteodysplasia
exact
acroosteolysis with osteoporosis and changes in skull and mandible
exact
serpentine fibula polycystic kidney syndrome
exact
serpentine fibula-polycystic kidney syndrome
exact
serpentine fibula-polycystic kidneys syndrome
exact