Search on: ALSTROM SYNDROME 
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Descriptor English:   Alstrom Syndrome 
Descriptor Spanish:   Síndrome de Alstrom 
Descriptor Portuguese:   Síndrome de Alstrom 
Synonyms English:   Alstrom Hallgren Syndrome
Alstrom's Syndrome
Alstrom-Hallgren Syndrome
Alstroms Syndrome
Alström Syndrome
Syndrome, Alstrom
Syndrome, Alstrom's
Syndrome, Alstrom-Hallgren
Syndrome, Alström  
Tree Number:   C10.500.300.099
C10.574.500.495.099
C10.668.829.800.300.099
C11.270.684.249
C16.131.077.245.063
C16.131.666.300.099
C16.320.184.063
C16.320.290.684.249
C16.320.400.375.099
Definition English:   Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene. 
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:   53515 
Unique Identifier:   D056769 

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