Alström Syndrome International
Cycle 3
Alström Syndrome is a rare genetic disease that affects many parts of the body. Alström Syndrome is named for a Swedish doctor, Carl-Henry Alstrom, who first described it in 1959. Alström Syndrome is caused by a change in a gene, called ALMS1.
Last updated 04/30/2025
Clinical
Disease Class
Cardiac diseases
Ciliopathies
Endocrine diseases
Gastroenterological diseases
Genetic diseases
Gynecological and obstetric diseases
Hepatic diseases
Infertility
Inherited metabolic disorder
Neurological diseases
Renal diseases
Respiratory diseases
Skin diseases
Transplant-related diseases
Urogenital diseases
Vascular disease
Body Systems
Cardiovascular / Circulatory
Digestive
Endocrine
Hematopoietic / Lymphatic / Immune
Integumentary / Exocrine
Metabolic
Muscular / Skeletal
Nervous / Sensory
Renal / Urinary / Excretory
Reproductive
Respiratory
Organs
Adrenal glands
Bladder
Blood vessels (veins, arteries)
Bones
Brain
Breasts
Ears
Esophagus
Eyes
Gallbladder
Heart
Kidneys
Liver
Lungs
Mouth / teeth
Ovaries
Pancreas
Penis
Pituitary glands
Scrotum
Skin
Spleen
Stomach
Testes
Thyroid
Uterus
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
ALMS1
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal recessive
Newborn Screening
No
Disease Mechanism(s)
Cilia dysfunction
Insulin pathway defects
Lipid metabolism disorder
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Average Age at Diagnosis
Early childhood (age 1+-5)
Middle childhood (6-11)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Affected Sex(es)
Female
Male
National Prevalence
101-1000
Global Prevalence
1001-10000
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
Incidence is higher in culturally or geographically isolated populations where individuals live and marry within small communities. Such is the case with the Acadians, whose ancestors were a small number of early settlers of Nova Scotia. It is difficult to estimate the prevalence of the ALMS gene as some individuals with milder forms of the syndrome may be underdiagnosed, however there is a higher frequency of ALMS1 pathogenic variants in certain ethnic populations, such as the aforementioned French Acadians and those of English and Turkish descent (7). However, Alström Syndrome is found world-wide among people of all ethnicities and nationalities and in families where there is no known or likely consanguinity.
Symptoms / Phenotypes
acanthosis nigricans
anxiety
cardiac abnormalities
childhood-onset truncal obesity
chronic hepatic failure
depression
diabetes
dyslipidemia
dysuria
epigastric pain
excessive hunger / hyperphagia
gastroesophageal reflux
growth delay / deficiency
hearing loss / hearing impairment
hyporeflexia
hypothyroidism
increased circulating androgen concentration/hyperandrogenism
insulin resistance
kidney disease / nephropathy
liver disease
male hypogonadism
nystagmus
photophobia
Retinal dystrophy
seizures / epilepsy
speech problems / apraxia
Biomarkers
Diagnostic
· Diagnostic test identifies pathogenic variants in the ALMS1 gene
Organizational & Research
Cell Lines
None
Disease Model
Mouse
Zebrafish
Disease Model, Involvement
Consulted
Disease Model, share
Some of our disease models are freely available
Clinical Trial Role
Meeting with regulators
Recruitment and outreach, patients
Recruitment and outreach, trial sites/physicians
Biobank, Institution
Indiana Biobank
Biobank, Involvement
Own
Center of Excellence, Institution
Greater Baltimore Medical Center (GBMC)
Indiana University
Center of Excellence, Involvement
Consulted
Designed
Endorsed/Certified/Accredited
Registry
Yes, we have collaborated on a registry
Data Collected, Registry
Clinical data
Patient contact info
Patient-reported data
Data Entered by, Registry
Clinicians
Other
Patients
Platform, Registry
CoRDS
Natural History Study
Yes, we have collaborated on a natural history study
Data Collected, Natural History Study
Clinical endpoints (outcomes)
Genetic data
Imaging data
Medication usage
Patient-reported outcomes
Platform, Natural History Study
CoRDS
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
Yes, we have guidance available on our website
Yes, we have published formal guidelines in a peer-reviewed journal
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
Asia
Europe
Middle East
North America
Oceania
South America