Rare Pulmonology News

Disease Profile

Alström syndrome

Prevalence
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

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

ALMS; ALSS; Alstrom's syndrome;

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases;

Summary

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]

Symptoms

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]

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
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

Diagnosis

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]

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.

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

    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.

    Organizations

    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

      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).

        Learn more

        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.

            References

            1. Alström syndrome. Genetics Home Reference (GHR). September 2014; https://ghr.nlm.nih.gov/condition/alstrom-syndrome.
            2. Jan D. Marshall. Alstrom Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/alstrom-syndrome/.
            3. J.D. Marshall, S. Beck, P. Maffei, J.K. Naggert. Alström syndrome. Orphanet. June 2014; https://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; https://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):https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657378/.

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