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Disease Profile
Alström syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
E34.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
ALMS; ALSS; Alstrom's syndrome;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases;
Summary
Alström
Symptoms
Signs and symptoms may include:[1][3][2]
- Vision abnormalities, specifically cone-rod dystrophy and
cataracts - Progressive
sensorineural hearing loss in both ears and chronic infection or inflammation of the middle ear - Heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy)
- Excessive eating (hyperphagia) and rapid weight gain leading to obesity
- Insulin resistance leading to high levels of insulin in the blood (hyperinsulinemia) and type 2 diabetes mellitus
- Elevated levels of fats (lipids) in the blood (hyperlipidemia)
- Fatty liver that may progress to significant liver disease
Short stature - Skin findings including abnormally increased coloration and “velvety” thickening of the skin in certain areas of the body (
acanthosis nigricans ) - Lower
hormone levels produced by the maletestes or the female ovaries (hypogonadism )
Alström syndrome can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs.[2]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Blindness | 0000618 | |
Cone/cone-rod dystrophy | 0000548 | |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Otitis media |
Middle ear infection
|
0000388 |
Progressive sensorineural hearing impairment | 0000408 | |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
30%-79% of people have these symptoms | ||
Abnormal liver physiology | 0031865 | |
Acanthosis nigricans |
Darkened and thickened skin
|
0000956 |
Chronic bronchitis | 0004469 | |
Dilated |
Stretched and thinned heart muscle
|
0001644 |
Dorsocervical fat pad |
Buffalo hump
|
0025383 |
Elevated gamma-glutamyltransferase level | 0030948 | |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Hypergonadotropic hypogonadism | 0000815 | |
Hyperinsulinemia | 0000842 | |
Hyperostosis frontalis interna | 0004438 | |
0000822 | ||
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Lumbar |
0004626 | |
Optic disc pallor | 0000543 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Polyphagia |
Voracious appetite
|
0002591 |
Receptive language delay | 0010863 | |
Recurrent pneumonia | 0006532 | |
Recurrent sinusitis | 0011108 | |
Restrictive ventilatory defect |
Stiff lung or chest wall causing decreased lung volume
|
0002091 |
Retinal pigment epithelial atrophy | 0007722 | |
Sensory impairment | 0003474 | |
Specific learning disability | 0001328 | |
Thoracic scoliosis | 0002943 | |
Truncal obesity | 0001956 | |
Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
5%-29% of people have these symptoms | ||
Abnormal coronary artery physiology | 0025496 | |
Abnormality of dental color |
Abnormality of tooth color
Abnormality of tooth shade
[ more ] |
0011073 |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
Autistic behavior | 0000729 | |
Chronic pulmonary obstruction | 0006510 | |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Decreased circulating T4 level | 0031507 | |
Decreased fertility in males | 0012041 | |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Delayed ability to sit | 0025336 | |
Delayed ability to stand | 0025335 | |
Delayed ability to walk | 0031936 | |
Detrusor sphincter dyssynergia | 0025488 | |
Drusen | 0011510 | |
Dysuria |
Painful or difficult urination
|
0100518 |
Epigastric pain | 0410019 | |
Esophageal varix |
Enlarged vein in esophagus
|
0002040 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Frontal balding | 0002292 | |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more |