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 ]
|
0002020 |
Gingivitis |
Inflamed gums
Red and swollen gums
[ more ]
|
0000230 |
Glomerulonephritis | 0000099 | |
Growth hormone deficiency | 0000824 | |
Enlarged male breast
|
0000771 | |
Hepatic failure |
Liver failure
|
0001399 |
Hepatic fibrosis | 0001395 | |
Hepatic steatosis |
Fatty infiltration of liver
Fatty liver
[ more ]
|
0001397 |
Hepatitis |
Liver inflammation
|
0012115 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Enlarged liver and spleen
|
0001433 | |
Hirsutism |
Excessive hairiness
|
0001007 |
Hyoplasia of the Leydig |
0010790 | |
Incoordination |
Difficulties in coordination
Incoordination of limb movements
Limb incoordination
[ more ]
|
0002311 |
Increased circulating androgen level | 0030348 | |
Increased thyroid-stimulating hormone level | 0002925 | |
Irregular menstruation |
Menstrual irregularity
|
0000858 |
Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
Myocardial fibrosis | 0001685 | |
Oligospermia |
Low sperm count
|
0000798 |
Polycystic ovaries | 0000147 | |
Poor fine motor coordination | 0007010 | |
Portal hypertension | 0001409 | |
Posterior subcapsular cataract | 0007787 | |
Primary hypothyroidism | 0000832 | |
Pulmonary arterial hypertension |
Increased blood pressure in blood vessels of lungs
|
0002092 |
Recurrent cystitis |
Recurrent bladder infections
|
0012786 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
Severe sensorineural hearing impairment | 0008625 | |
Short finger |
Stubby finger
|
0009381 |
Short toe |
Short toes
Stubby toes
[ more ]
|
0001831 |
Splenomegaly |
Increased spleen size
|
0001744 |
Stage 5 chronic |
0003774 | |
Testicular fibrosis | 0012860 | |
Thickened ears | 0009894 | |
Urinary incontinence |
Loss of bladder control
|
0000020 |
Urinary retention | 0000016 | |
Urinary urgency |
Overactive bladder
|
0000012 |
Vestibular dysfunction | 0001751 | |
Visual field defect |
Partial loss of field of vision
|
0001123 |
1%-4% of people have these symptoms | ||
0001251 | ||
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
Delayed menarche |
Delayed start of first period
|
0012569 |
Hepatic |
0002480 | |
Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
Pancreatitis |
Pancreatic inflammation
|
0001733 |
Precocious puberty in females | 0010465 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
Typical absence |
0011147 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ]
|
0000164 |
Abnormality of the hand |
Abnormal hands
Hand anomalies
Hand deformities
[ more ]
|
0001155 |
Alopecia |
Hair loss
|
0001596 |
Asthma | 0002099 | |
Atherosclerosis |
Narrowing and hardening of arteries
|
0002621 |
0000007 | ||
Chronic active hepatitis | 0200120 | |
Constriction of peripheral visual field |
Limited peripheral vision
|
0001133 |
Decreased HDL cholesterol concentration |
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ]
|
0003233 |
Diabetes insipidus | 0000873 | |
Global |
0001263 | |
Hyperuricemia |
High blood uric acid level
|
0002149 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Insulin-resistant diabetes mellitus |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ]
|
0000831 |
Multinodular goiter | 0005987 | |
Nephritis |
Kidney inflammation
|
0000123 |
Pigmentary retinopathy | 0000580 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
Scoliosis | 0002650 | |
Subcapsular cataract | 0000523 | |
Tubulointerstitial nephritis | 0001970 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include Bardet-Biedl syndrome, Biemond syndrome type 2, Wolfram syndrome, Cohen syndrome, familial isolated DCM and mitochondrial disorders.
Visit the
Orphanet disease page
for more information.
|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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What percentage of patients with Alström syndrome become deaf? What is the average age of deafness? See answer