Alstrom Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 68Wikipedia, 51Orphanet, 35MedlinePlus, 24GTR, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 37MESH via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources
Aliases & Descriptions for Alstrom Syndrome:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,infantile,late childhood,young Adult
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Ear diseases, Endocrine diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
MedlinePlus:35 If you have low vision, eyeglasses, contact lenses, medicine, or surgery may not help. activities like reading, shopping, cooking, writing, and watching tv may be hard to do. the leading causes of low vision and blindness in the united states are age-related eye diseases: macular degeneration, cataract and glaucoma. other eye disorders, eye injuries and birth defects can also cause vision loss. whatever the cause, lost vision cannot be restored. it can, however, be managed. a loss of vision means that you may have to reorganize your life and learn new ways of doing things. if you have some vision, visual aids such as special glasses and large print books can make life easier. there are also devices to help those with no vision, like text-reading software and braille books. the sooner vision loss or eye disease is found and treated, the greater your chances of keeping your remaining vision. you should have regular comprehensive eye exams by an eye care professional. nih: national eye institute
MalaCards based summary: Alstrom Syndrome, also known as alström syndrome, is related to tenosynovial giant cell tumor and chromosome 16p13.3 duplication syndrome, and has symptoms including short stature, truncal obesity and chorioretinal abnormality. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). Affiliated tissues include kidney, eye and heart, and related mouse phenotypes are renal/urinary system and adipose tissue.
Disease Ontology:10 An autosomal recessive disease that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has material basis in mutations in the ALMS1 gene.
NIH Rare Diseases:45 Alström syndrome is a rare condition that affects many body systems. the disorder is generally characterized by vision and hearing abnormalities, childhood obesity, diabetes mellitus, heart disease and slowly progressive kidney dysfunction which can lead to kidney failure. many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. alström syndrome is caused by mutations in the alms1 gene. it is inherited in an autosomal recessive pattern. while there is no specific therapy for this condition, early diagnosis and intervention can moderate the progression and improve the longevity and quality of life for patients with the disease. last updated: 12/8/2010
UniProtKB/Swiss-Prot:67 Alstrom syndrome: A rare autosomal recessive disorder characterized by progressive cone- rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.
Genetics Home Reference:23 Alström syndrome is a rare condition that affects many body systems. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life.
OMIM:49 Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to... (203800) more...
Wikipedia:68 Alström syndrome, also called Alstrom-Halgren Syndrome, is a rare genetic disorder caused by mutations... more...
GeneReviews summary for NBK1267
Diseases related to Alstrom Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 18)
Graphical network of diseases related to Alstrom Syndrome:
Symptoms by clinical synopsis from OMIM:203800
Clinical features from OMIM:203800
Symptoms:51 (show all 55)
HPO human phenotypes related to Alstrom Syndrome:(show all 96)
UMLS symptoms related to Alstrom Syndrome:hepatomegaly
Drugs for Alstrom Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Alstrom Syndrome
MalaCards organs/tissues related to Alstrom Syndrome:33
Kidney, Eye, Heart, Liver, Lung, Ovary, Cerebellum
MGI Mouse Phenotypes related to Alstrom Syndrome:38
Articles related to Alstrom Syndrome:(show all 27)
Clinvar genetic disease variations for Alstrom Syndrome:5 (show all 18)
Search GEO for disease gene expression data for Alstrom Syndrome.
Cellular components related to Alstrom Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Alstrom Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Alstrom Syndrome according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet