Alstrom Syndrome malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Alstrom Syndrome:
Orphanet epidemiological data:53
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
Penetrance: no clinically unaffected individuals with two alms1 pathogenic variants in trans have been reported; thus, penetrance appears to be 100% [marshall et al 2011a]...
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Nephrological diseases, Ear diseases, Endocrine diseases
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Alström syndrome is a rare genetic disorder that affects many body systems. 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. Alström syndrome is caused by mutations in the ALMS1 gene. It is inherited in an autosomal recessive manner. 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. Last updated: 6/22/2016
MalaCards based summary: Alstrom Syndrome, also known as alström syndrome, is related to obesity and lipodystrophy, familial partial, 2, and has symptoms including sensorineural hearing impairment, chorioretinal abnormality and truncal obesity. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1, Centrosome And Basal Body Associated Protein). Affiliated tissues include kidney, liver and heart, and related mouse phenotypes are renal/urinary system and digestive/alimentary.
Disease Ontology:11 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.
Genetics Home Reference:25 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:51 Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to... (203800) more...
UniProtKB/Swiss-Prot:69 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.
Wikipedia:70 Alström syndrome, also called Alstrom-Halgren Syndrome, is a rare genetic disorder caused by mutations... more...
GeneReviews for NBK1267
Human phenotypes related to Alstrom Syndrome:63 53 (show all 91)
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:35
Kidney, Liver, Heart, Eye, Testis, Ovary, Cerebellum
MGI Mouse Phenotypes related to Alstrom Syndrome:40 (show all 12)
Articles related to Alstrom Syndrome:(show all 28)
Clinvar genetic disease variations for Alstrom Syndrome:5 (show all 22)
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:(show all 15)
Molecular functions related to Alstrom Syndrome according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet