| Entry |
Name |
Description |
Category |
Pathway |
Gene |
|
H00536
|
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
|
... chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the NOTCH3 gene.
|
Congenital malformation
|
|
NOTCH3 [HSA:4854] [KO:K20995]
|
|
H01893
|
Lateral meningocele syndrome
Lehman syndrome
|
... abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones, and osteolysis may be present. NOTCH3 gain of function mediated via loss of the PEST degradation domain is associated with LMS.
|
Congenital malformation
|
|
NOTCH3 [HSA:4854] [KO:K20995]
|
|
H01910
|
Infantile myofibromatosis
|
... there have been several reports of autosomal dominant inheritance pattern. Mutations in the PDGFRB and NOTCH3 genes were recently identified in patients with IM. Treatment options vary widely. Solitary and ...
|
Neoplasm
|
|
(IMF1) PDGFRB [HSA:5159] [KO:K05089]
(IMF2) NOTCH3 [HSA:4854] [KO:K20995]
|