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Alström syndrome


Title




Other Names:
ALMS; ALSS; Alstrom's syndrome; ALMS; ALSS; Alstrom's syndrome; Alstrom syndrome See More
Categories:
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Eye diseases; Heart Diseases; Kidney and Urinary Diseases See More

Summary Summary


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Alström syndrome is a rare genetic disorder that affects many body systems.[1][2] Symptoms develop gradually, beginning in infancy, and can be variable. In childhood, the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, and heart disease (cardiomyopathy). Over time, diabetes mellitus, liver problems, and slowly progressive kidney dysfunction which can lead to kidney failure may develop.[2] Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner.[1] While there is no specific treatment for Alström syndrome, symptoms can be managed by a team of specialists with the goal of improving the quality of life and increasing the lifespan.[2][3]
Last updated: 6/22/2016

Symptoms Symptoms


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The signs and symptoms of Alström syndrome vary among affected individuals. The age that symptoms begin also varies. Symptoms may first appear anywhere from infancy to early adulthood.[2]

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 male testes or the female ovaries (hypogonadism)

Alström syndrome can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs.[2]

Last updated: 6/22/2016

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.

Showing of 129 |
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
Nystagmus
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 cardiomyopathy
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
Hypertension 0000822
Kyphosis
Hunched back
Round back
[ more ]
0002808
Lumbar scoliosis 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 diabetes mellitus
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
Gynecomastia
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
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Hirsutism
Excessive hairiness
0001007
Hyoplasia of the Leydig cells 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 kidney disease 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
Ataxia 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 encephalopathy 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 seizure 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
Autosomal recessive inheritance 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 developmental delay 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
Showing of 129 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance


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Alström syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the ALMS1 gene in each cell.[1] 

Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to be unaffected and not be a carrier
Last updated: 6/14/2016

Diagnosis Diagnosis


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Genetic testing of the ALMS1 gene is available for Alström syndrome. Although genetic testing is not necessary to make a diagnosis of Alström syndrome, it can be helpful to confirm a diagnosis. If a mutation is not identified in both copies of the ALMS1 gene of an individual suspected to have Alström syndrome, it does not rule out the diagnosis.[4]
Last updated: 6/14/2016

Alström syndrome is diagnosed based on clinical findings (signs and symptoms), medical history, and family history. Making a diagnosis can be complicated by the variation in age of symptom onset from one individual to another. Genetic testing is not necessary to make the diagnosis of Alström syndrome, although it can be useful to confirm a diagnosis.[4][2]

A table listing diagnostic criteria categorized by age is available through GeneReviews. 
Last updated: 6/14/2016

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment


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There is no specific treatment for Alström syndrome. Treatment is focused on managing the symptoms present in each individual. This may involve a team of specialists including but not limited to: pediatricians, cardiologists, audiologists (hearing specialists), ophthalmologists, endocrinologists, and orthopaedists.[2]

Treatment may include:[2][4]
  • Specially-tinted, prescription glasses and vision aids to assist with vision loss
  • Hearing aids and cochlear implants for hearing loss
  • Dietary measures, exercise programs, and oral medications and/or insulin to control diabetes
  • ACE inhibitors and other medications to manage heart and kidney problems with some individuals requiring a kidney or heart transplant
  • Hormone therapy if the male testes or female ovaries produce lower than average levels
Alstrom Syndrome International offers a listing of recommended monitoring guidelines on their website. Click on the link for more information. 
Last updated: 6/22/2016

Prognosis Prognosis


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The prognosis for Alström syndrome varies depending on the progression of symptoms, specifically heart and kidney disease. The lifespan and overall quality of life for individuals with Alström syndrome can be improved by early diagnosis, treatment, surveillance, and proper management of symptoms.[3][5]
Last updated: 6/15/2016

Find a Specialist Find a Specialist


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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.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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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 Research


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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.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Alström syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Alström syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Alström syndrome:
    Alström Research Connect (ARC)
     

Organizations Organizations


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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.

Organizations Supporting this Disease

  • Alstrom Syndrome International
    14 Whitney Farm Road
    Mount Desert, ME 04660
    Toll-free: 800-371-3628
    E-mail: info@alstrom.org
    Website: http://www.alstrom.org

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
Do you know of an organization? We want to hear from you.

Living With Living With


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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.

Financial Resources

  • The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More


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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.

Where to Start

  • Alstrom Syndrome International, a supporting organization, offers information on Alström syndrome 
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on Alström syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Alström syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What percentage of patients with Alström syndrome become deaf? What is the average age of deafness? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Alström syndrome. Genetics Home Reference (GHR). September 2014; http://ghr.nlm.nih.gov/condition/alstrom-syndrome.
  2. Jan D. Marshall. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2016; http://rarediseases.org/rare-diseases/alstrom-syndrome/.
  3. J.D. Marshall, S. Beck, P. Maffei, J.K. Naggert. Alström syndrome. Orphanet. June 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=64.
  4. Marshall J, Paisey RB, Carey C, Macdermott S. Alström syndrome. GeneReviews. May 31, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1267/.
  5. Stephanie Van Groenendael, Luca Giacovazzi, Fabian Davison, Oliver Holtkemper, Zexin Huang, Qiaoying Wang, Kay Parkinson, Timothy Barrett, Tarekegn Geberhiwot. High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. Orphanet J Rare Dis. Nov 24 2015; 10(149):http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657378/.
Do you know of a review article? We want to hear from you.
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