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ALMS
MCID: ALS001
MIFTS: 55
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Alstrom Syndrome (ALMS)
Categories:
Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Alstrom Syndrome:
Characteristics:Orphanet epidemiological data:60
alström syndrome
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; HPO:33
alstrom syndrome:
Mortality/Aging death in early adulthood Inheritance autosomal recessive inheritance GeneReviews:25
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]...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Eye diseases Nephrological diseases Ear diseases Endocrine diseases Cardiovascular diseases
Orphanet: 60
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
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NIH Rare Diseases
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54
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.
MalaCards based summary : Alstrom Syndrome, also known as alström syndrome, is related to retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome and bardet-biedl syndrome 16. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1 Centrosome And Basal Body Associated Protein). The drugs Hormones and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart, and related phenotypes are short stature and truncal obesity Disease Ontology : 12 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 : 26 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 : 58 Alstrom syndrome is an autosomal recessive disorder characterized by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, and type 2 diabetes mellitus. Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence. Renal failure, pulmonary, hepatic, and urologic dysfunction are often observed, and systemic fibrosis develops with age (summary by Collin et al., 2002; Marshall et al., 2007). (203800) UniProtKB/Swiss-Prot : 76 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 : 77 Alström syndrome (AS), also called Alström–Hallgren syndrome, is a rare genetic disorder caused by... more...
GeneReviews:
NBK1267
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Human phenotypes related to Alstrom Syndrome:60 33 (show top 50) (show all 85)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:203800MGI Mouse Phenotypes related to Alstrom Syndrome:47
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Drugs for Alstrom Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: alstrom syndrome |
MalaCards organs/tissues related to Alstrom Syndrome:42
Kidney,
Liver,
Heart,
Eye,
Bone,
Ovary,
Cerebellum
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Articles related to Alstrom Syndrome:(show all 39)
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Genes related to Alstrom Syndrome (1 elite genes):(show all 14) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Alstrom Syndrome:6 (show top 50) (show all 2080)
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Search
GEO
for disease gene expression data for Alstrom Syndrome.
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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:
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