Alstrom Syndrome [Alströmův syndrom]

topical
1
Terms

Alstromův syndrom

 

Alström Syndrome
Alstrom-Hallgren Syndrome
Alstrom's Syndrome

Persistent link   https://www.medvik.cz/link/D056769
Definition

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.

DUI
D056769 MeSH Browser
CUI
M0529107
History note
2010
Public note
2010

Allowable subheadings

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 1
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

C Diseases
C10 Nervous System Diseases 1 878
C10.500 Nervous System Malformations 80
C10.500.300 Hereditary Sensory and Motor Neuropathy 71
C10.500.300.099 Alstrom Syndrome 1
C10.500.300.200 Charcot-Marie-Tooth Disease 159
C10.500.300.490 Giant Axonal Neuropathy 1
C10.500.300.780 Refsum Disease 6
C10.500.300.820 Spastic Paraplegia, Hereditary 23
C10.574 Neurodegenerative Diseases 641
C10.574.500 Heredodegenerative Disorders, Nervous System 45
C10.574.500.495 Hereditary Sensory and Motor Neuropathy 71
C10.574.500.495.099 Alstrom Syndrome 1
C10.574.500.495.200 Charcot-Marie-Tooth Disease 159
C10.574.500.495.490 Giant Axonal Neuropathy 1
C10.574.500.495.780 Refsum Disease 6
C10.574.500.495.820 Spastic Paraplegia, Hereditary 23
C10.668 Neuromuscular Diseases 330
C10.668.829 Peripheral Nervous System Diseases 491
C10.668.829.800 Polyneuropathies 343
C10.668.829.800.300 Hereditary Sensory and Motor Neuropathy 71
C10.668.829.800.300.099 Alstrom Syndrome 1
C10.668.829.800.300.200 Charcot-Marie-Tooth Disease 159
C10.668.829.800.300.490 Giant Axonal Neuropathy 1
C10.668.829.800.300.780 Refsum Disease 6
C10.668.829.800.300.820 Spastic Paraplegia, Hereditary 23
C11 Eye Diseases 1 489
C11.270 Eye Diseases, Hereditary 57
C11.270.684 Retinitis Pigmentosa 55
C11.270.684.249 Alstrom Syndrome 1
C11.270.684.624 Bardet-Biedl Syndrome 18
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.077 Abnormalities, Multiple 330
C16.131.077.245 Ciliopathies 9
C16.131.077.245.063 Alstrom Syndrome 1
C16.131.077.245.125 Bardet-Biedl Syndrome 18
C16.131.077.245.250 Caroli Disease 6
C16.131.077.245.500 Ciliary Motility Disorders 57
C16.131.077.245.750 von Hippel-Lindau Disease 56
C16.131.666 Nervous System Malformations 80
C16.131.666.300 Hereditary Sensory and Motor Neuropathy 71
C16.131.666.300.099 Alstrom Syndrome 1
C16.131.666.300.200 Charcot-Marie-Tooth Disease 159
C16.131.666.300.490 Giant Axonal Neuropathy 1
C16.131.666.300.780 Refsum Disease 6
C16.131.666.300.820 Spastic Paraplegia, Hereditary 23
C16.320 Genetic Diseases, Inborn 1 213
C16.320.184 Ciliopathies 9
C16.320.184.063 Alstrom Syndrome 1
C16.320.184.125 Bardet-Biedl Syndrome 18
C16.320.184.250 Caroli Disease 6
C16.320.184.500 Ciliary Motility Disorders 57
C16.320.184.625 Polycystic Kidney Diseases 82
C16.320.184.750 von Hippel-Lindau Disease 56
C16.320.290 Eye Diseases, Hereditary 57
C16.320.290.684 Retinitis Pigmentosa 55
C16.320.290.684.249 Alstrom Syndrome 1
C16.320.290.684.500 Usher Syndromes 8
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.400.375 Hereditary Sensory and Motor Neuropathy 71
C16.320.400.375.099 Alstrom Syndrome 1
C16.320.400.375.200 Charcot-Marie-Tooth Disease 159
C16.320.400.375.490 Giant Axonal Neuropathy 1
C16.320.400.375.780 Refsum Disease 6
C16.320.400.375.820 Spastic Paraplegia, Hereditary 23

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