Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
Descriptor English:   Porencephaly 
Descriptor Spanish:   Porencefalia 
Descriptor Portuguese:   Porencefalia 
Synonyms English:   Autosomal Dominant Porencephaly Type 1
Congenital Porencephaly
Developmental Porencephaly
Encephaloclastic Porencephaly
Familial Porencephalic White Matter Disease
Familial Porencephaly
Infantile Hemiplegia with Porencephaly
Porencephaly Type 1
Porencephaly Type 1s
Porencephaly, Congenital
Porencephaly, Developmental
Porencephaly, Encephaloclastic
Porencephaly, Familial
Porencephaly, Post-traumatic
Porencephaly, Type 1
Porencephaly, Type 1, Autosomal Dominant
Post traumatic Porencephaly
Post-traumatic Porencephaly
Type 1 Porencephaly  
Tree Number:   C05.660.207.620.500
Definition English:   Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types. 
See Related English:   Collagen Type IV
History Note English:   2015 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   55561 
Unique Identifier:   D065708 

Occurrence in VHL: