Search on: NETHERTON SYNDROME 
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Descriptor English:   Netherton Syndrome 
Descriptor Spanish:   Síndrome de Netherton 
Descriptor Portuguese:   Síndrome de Netherton 
Synonyms English:   Netherton Disease  
Tree Number:   C16.131.077.619
C16.131.831.512.400.705
C16.320.850.673
C16.614.492.400.705
C17.800.428.333.250.705
C17.800.804.512.400.705
C17.800.827.655
Definition English:   Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene. 
See Related English:   Serine Peptidase Inhibitor Kazal-Type 5
 
History Note English:   2010 
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:   53553 
Unique Identifier:   D056770 

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